T. Ogata

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Uniparental disomy and human disease: An overview

A. Ferguson-Smith, K. Yamazawa, T. Ogata, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

T. Ogata, R. Kosaki, K. Kosaki, 2002, The Journal of clinical endocrinology and metabolism.

Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

H. Kanegane, T. Ogata, Toshiaki Tanaka, 2004, The Journal of clinical endocrinology and metabolism.

Prevalence and clinical features of Costello syndrome and cardio‐facio‐cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

S. Kuriyama, T. Ogata, H. Ohashi, 2012, American journal of medical genetics. Part A.

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Toshihiko Ogura, Kenji Kurosawa, Yoichi Matsubara, 2013, American journal of human genetics.

Genomewide Array Comparative Genomic Hybridization in 55 JapaneseNormokaryotypic Patients with Non-Syndromic Intellectual Disability

T. Ogata, T. Fukuda, Miki Asahina, 2016 .

Growth hormone therapy and scoliosis in patients with Prader–Willi syndrome

N. Niikawa, R. Sakuta, T. Ogata, 2006, American journal of medical genetics. Part A.

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

T. Ogata, N. Matsumoto, Y. Makita, 2015, Journal of Human Genetics.

Long-term efficacy and safety of two doses of Norditropin® (somatropin) in Noonan syndrome: a 4-year randomized, double-blind, multicenter trial in Japanese patients.

T. Ogata, K. Ozono, Y. Matsubara, 2020, Endocrine journal.

Efficacy and safety of two doses of Norditropin® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients.

T. Ogata, K. Ozono, Y. Matsubara, 2017, Endocrine journal.

Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype.

M. Kubota, T. Ogata, S. Saitoh, 2009, The Journal of pediatrics.

Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling.

T. Ogata, T. Hasegawa, S. Soneda, 2005, Endocrine journal.

Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene: implication for the susceptibility to dioxins.

T. Ogata, I. Sasagawa, Y. Yoshimura, 2004, Fertility and sterility.

Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome

T. Ogata, T. Nakanishi, T. Hasegawa, 2017, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia.

T. Ogata, M. Onodera, Y. Naiki, 2016, Endocrine journal.

The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females

Y. Fukushima, T. Ogata, H. Ohashi, 2003, Cytogenetic and Genome Research.

Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects

T. Ogata, M. Fukami, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency.

T. Ogata, K. Muroya, T. Nagai, 2010, Molecular genetics and metabolism.

Long-Term Effect of Aromatase Inhibition in Aromatase Excess Syndrome

T. Ogata, G. Binder, R. Schweizer, 2021, The Journal of clinical endocrinology and metabolism.

Compound Effects of Point Mutations Causing Campomelic Dysplasia/Autosomal Sex Reversal upon SOX9 Structure, Nuclear Transport, DNA Binding, and Transcriptional Activation*

I. Barroso, T. Ogata, A. Clayton, 2001, The Journal of Biological Chemistry.

A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2

T. Ogata, K. Kurosawa, K. Muroya, 2021, Journal of Human Genetics.

Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader–Willi syndrome due to an advanced maternal childbearing age in Korea

T. Ogata, K. Matsubara, 2013, Journal of Human Genetics.

11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome.

T. Ogata, Y. Matsubara, T. Iwasa, 2018, Endocrine journal.

Development of waist circumference percentiles for Japanese children and an examination of their screening utility for childhood metabolic syndrome: a population-based cross-sectional study

T. Ogata, T. Ohzeki, T. Isojima, 2015, BMC Public Health.

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

A. Ferguson-Smith, T. Ogata, K. Kosaki, 2008, Nature Genetics.

Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.

T. Ogata, H. Soejima, H. Hiura, 2012, Human reproduction.

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

O. Migita, P. Lapunzina, T. Ogata, 2016, Human Genetics.

KRAS Analysis in 34 Noonan Syndrome Patients without PTPN11 Mutation

T. Ogata, R. Yoshida, Kaoru Yamamoto, 2007, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

T. Ogata, H. Saitsu, M. Nakashima, 2020, Molecular genetics & genomic medicine.

Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation

T. Ogata, M. Seishima, R. Yoshida, 2007, The British journal of dermatology.

Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development.

T. Ogata, T. Hasegawa, Seiji Sato, 2002, American journal of medical genetics.

Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region

T. Ogata, Hiroyuki Ono, M. Fukami, 2020, Genome biology and evolution.

A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a

T. Ogata, H. Awano, Kaori Sue, 2018, Cytogenetic and Genome Research.

Identification of INS and KCNJ11 gene mutations in type 1B diabetes in Japanese children with onset of diabetes before 5 yr of age

T. Ogata, I. Yokota, M. Itakura, 2013, Pediatric diabetes.

Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation

T. Ogata, M. Matsuo, K. Nakanishi, 2010, Pediatric Nephrology.

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes

R. Fodde, T. Ogata, N. Matsumoto, 2006, American journal of medical genetics. Part A.

Incidence and prevalence of childhood‐onset Type 1 diabetes in Japan: the T1D study

N. Tajima, T. Ogata, Y. Onda, 2017, Diabetic medicine : a journal of the British Diabetic Association.

The lipid fraction of human milk initiates adipocyte differentiation in 3T3-L1 cells.

T. Ogata, Y. Nakagawa, E. Nagata, 2013, Early human development.

Childbirth and fertility preservation in childhood and adolescent cancer patients: a second national survey of Japanese pediatric endocrinologists

C. Shimizu, T. Ogata, K. Ozono, 2017, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Gonadal function, fertility, and reproductive medicine in childhood and adolescent cancer patients: a national survey of Japanese pediatric endocrinologists

C. Shimizu, T. Ogata, K. Ozono, 2016, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

T. Ogata, S. Saitoh, R. Kosaki, 2017, Genetics in Medicine.

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

K. Yamazawa, T. Ogata, Takanobu Inoue, 2020, Clinical Epigenetics.

Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology

K. Yamazawa, T. Ogata, Takanobu Inoue, 2018, Journal of Medical Genetics.

Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.

T. Ogata, Hiroyuki Tanaka, S. Ida, 2017, Endocrine journal.

Catastrophic cellular events leading to complex chromosomal rearrangements in the germline

T. Ogata, T. Kamimaki, M. Fukami, 2017, Clinical genetics.

Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s).

T. Ogata, N. Matsuo, 1992, Journal of medical genetics.

Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry.

T. Sairenchi, T. Ogata, K. Ozono, 2017, Endocrine journal.

Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

T. Ogata, R. Kosaki, K. Kosaki, 2000, American journal of human genetics.

Individual Variation of the Genetic Response to Bisphenol A in Human Foreskin Fibroblast Cells Derived from Cryptorchidism and Hypospadias Patients

T. Ogata, H. Sone, J. Yonemoto, 2012, PloS one.

The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia

A. Enomoto, T. Ogata, H. Endou, 2004, Pediatric Nephrology.

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations

T. Mukai, T. Ogata, R. Kosaki, 2014, Genetics in Medicine.

Genetics of Human Growth

T. Ogata, 2006, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Human Chorionic Gonadotropin Stimulation Test in Prepubertal Children with Micropenis Can Accurately Predict Leydig Cell Function in Pubertal or Postpubertal Adolescents

T. Ogata, H. Shibata, T. Kamimaki, 2015, Hormone Research in Paediatrics.

Cellular insulin resistance in Epstein-Barr virus-transformed lymphoblasts from young insulin-resistant Japanese men.

T. Saruta, T. Ogata, H. Hirose, 2005, Metabolism: clinical and experimental.

Author's response to reviews Title:Development of waist circumference percentiles for Japanese children and an examination of their screening utility for childhood metabolic syndrome - a population-based cross-sectional study

T. Ogata, T. Ohzeki, T. Isojima, 2015 .

The Y specific growth gene(s): how does it promote stature?

T. Ogata, N. Matsuo, 1997, Journal of medical genetics.

Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin‐requiring antibody‐negative type 1 diabetes

K. Ihara, T. Ogata, Toshikazu Takahashi, 2018, Pediatric diabetes.

Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between >5 and 15.1 years of age

T. Ogata, I. Yokota, T. Kawamura, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

A novel de novo point mutation of the OCT‐binding site in the IGF2/H19‐imprinting control region in a Beckwith–Wiedemann syndrome patient

T. Ogata, H. Soejima, H. Koseki, 2014, Clinical genetics.

Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR

K. Yamazawa, T. Ogata, M. Kagami, 2008, Journal of Human Genetics.

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2–H19 domain in bodies and placentas

K. Yamazawa, T. Ogata, K. Matsuoka, 2008, Journal of Molecular Medicine.

Assisted Reproductive Technology and Imprinting Failure

T. Ogata, M. Kagami, 2006 .

Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST

K. Yamazawa, T. Ogata, T. Nagai, 2007, Journal of Assisted Reproduction and Genetics.

IGF2 Mutations: Report of Five Cases, Review of the Literature, and Comparison with H19/IGF2:IG-DMR Epimutations.

T. Ogata, H. Saitsu, Takanobu Inoue, 2019, The Journal of clinical endocrinology and metabolism.

De novo IGF2 mutation on the paternal allele in a patient with Silver–Russell syndrome and ectrodactyly

T. Ogata, H. Saitsu, Hisakazu Nakajima, 2017, Human mutation.

Reply to Mergenthaler et al.

T. Ogata, R. Kosaki, K. Kosaki, 2001 .

Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region.

P. Goodfellow, C. Petit, T. Ogata, 1992, Journal of medical genetics.

Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2.

T. Ogata, Y. Sotomaru, H. Hiura, 2009, Genomics.

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

Z. Tümer, P. Lapunzina, T. Ogata, 2022, Clinical epigenetics.

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum

K. Yamazawa, T. Ogata, Takanobu Inoue, 2020, The Journal of clinical endocrinology and metabolism.

Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.

T. Ogata, K. Kosaki, Takao Takahashi, 2003, The Journal of clinical endocrinology and metabolism.

Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria.

T. Ogata, K. Ozono, E. Satake, 2013, The Journal of clinical endocrinology and metabolism.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

S. Humphray, Z. Kingsbury, A. Vanderver, 2017, neurogenetics.

Impaired urinary water excretion in a three-generation family

T. Ogata, S. Ishikawa, Takako Saito, 2001, Pediatric Nephrology.

Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.

T. Ogata, G. Binder, S. Kanzaki, 2011, The Journal of clinical endocrinology and metabolism.

Segmental and full paternal isodisomy for chromosome 14 in three patients: Narrowing the critical region and implication for the clinical features

T. Ogata, F. Ishino, T. Okuyama, 2005, American journal of medical genetics. Part A.

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development

T. Ogata, H. Saitsu, R. Horikawa, 2020, Scientific Reports.

Anti-nuclear antibodies in patients with premature ovarian failure.

T. Ogata, A. Amemiya, B. Ishizuka, 1999, Human reproduction.

5Alpha-reductase type 2 genes in Japanese males do not appear to be associated with cryptorchidism.

T. Ogata, I. Sasagawa, K. Itoh, 2002, Fertility and sterility.

Screening for mutations of the androgen receptor gene in patients with isolated cryptorchidism.

T. Ogata, T. Nakada, I. Sasagawa, 2001, Fertility and sterility.

Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis.

T. Ogata, T. Nakada, I. Sasagawa, 2001, Human reproduction.

Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis.

M. Tomita, T. Ogata, R. Kosaki, 2002, Teratology.

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation

T. Ogata, H. Saitsu, G. Nishimura, 2019, Journal of Human Genetics.

Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3–Xp22.11

T. Ogata, T. Kamimaki, K. Muroya, 1999, Journal of medical genetics.

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.

T. Ogata, Hiroyuki Tanaka, N. Azuma, 2010, The Journal of clinical endocrinology and metabolism.

An immunologically anomalous but considerably bioactive GH produced by a novel GH1 mutation (p.D116E).

T. Ogata, Toshiaki Tanaka, N. Katsumata, 2009, European journal of endocrinology.

Congenital limb deficiency in Japan: a cross-sectional nationwide survey on its epidemiology

T. Ogata, N. Haga, H. Kitoh, 2018, BMC Musculoskeletal Disorders.

Mutation analysis of FGFR1‐3 in 11 Japanese patients with syndromic craniosynostoses

T. Ogata, G. Nishimura, H. Suzumura, 2017, American journal of medical genetics. Part A.

Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).

T. Ogata, K. Kosaki, N. Shimasaki, 2001, American journal of human genetics.

PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.

T. Ogata, R. Yoshida, 2005, Pediatric endocrinology reviews : PER.

Microhomology-Mediated Microduplication in the Y Chromosomal Azoospermia Factor a Region in a Male with Mild Asthenozoospermia

T. Ogata, Y. Matsubara, K. Nakabayashi, 2015, Cytogenetic and Genome Research.

Diagnosis and management of Silver-Russell syndrome

Dias, M. Maghnie, Z. Tümer, 2018 .

Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome.

P. Goodfellow, K. Schmitt, T. Ogata, 1998, American journal of human genetics.

Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p.

Y. Fukushima, T. Ogata, J. Hata, 1997, Journal of medical genetics.

Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency.

T. Ogata, K. Matsubara, A. Yoshida, 2010, Fertility and sterility.

Expression of Xenobiotic Biomarkers CYP1 Family in Preputial Tissue of Patients with Hypospadias and Phimosis and Its Association with DNA Methylation Level of SRD5A2 Minimal Promoter

T. Ogata, Y. Kojima, Y. Hayashi, 2017, Archives of Environmental Contamination and Toxicology.

Congenital disorders of estrogen biosynthesis and action.

T. Ogata, M. Fukami, 2021, Best practice & research. Clinical endocrinology & metabolism.

Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis

T. Ogata, M. Shozu, M. Fukami, 2014, Expert review of endocrinology & metabolism.

Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome

T. Ogata, M. Shozu, M. Fukami, 2012, International journal of endocrinology.

Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.

T. Ogata, K. Morohashi, K. Fukutani, 2004, The Journal of clinical endocrinology and metabolism.

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

R. Weksberg, Z. Tümer, P. Lapunzina, 2015, European Journal of Human Genetics.

CXorf6 is a causative gene for hypospadias

G. Camerino, I. Nishino, T. Ogata, 2006, Nature Genetics.

Noonan syndrome: genotype analysis of the Noonan syndrome critical region at chromosome 12q in a three-generation family.

T. Ogata, K. Muroya, M. Tsukahara, 1998, American journal of medical genetics.

Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern

Y. Fukushima, T. Ogata, Donna M. Brown, 1998, Human Genetics.

Analysis of expression and structure of the rat GH-secretagogue/ghrelin receptor (Ghsr) gene: Roles of epigenetic modifications in transcriptional regulation

Z. Qian, T. Ogata, K. Fujieda, 2011, Molecular and Cellular Endocrinology.

Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform.

M. Esteller, C. Simón, S. Moran, 2018, Epigenomics.

Gain‐of‐function mutations in G‐protein–coupled receptor genes associated with human endocrine disorders

T. Ogata, M. Igarashi, M. Fukami, 2018, Clinical endocrinology.

Paradoxical gain‐of‐function mutant of the G‐protein‐coupled receptor PROKR2 promotes early puberty

T. Ogata, Y. Matsubara, A. Umezawa, 2017, Journal of cellular and molecular medicine.

Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes.

H. Aburatani, P. Lapunzina, T. Ogata, 2011, Human molecular genetics.

Giant Seminoma in a Patient With 5α-Reductase Type 2 Deficiency

K. Nakagawa, T. Ogata, M. Murai, 2003 .

Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency.

T. Ogata, M. Itoh, B. Ishizuka, 2011, Fertility and sterility.

Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions

T. Ogata, K. Hata, K. Nakabayashi, 2019, Clinical Epigenetics.

Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency

K. Nagao, C. Obuse, T. Ogata, 2020, Scientific Reports.

Silver–Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C

T. Ogata, T. Kikuchi, K. Nagasaki, 2014, Journal of Human Genetics.

A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: Differential role of the polyalanine tract in the development of the ovary and the eyelid

T. Ogata, R. Kosaki, K. Kosaki, 2002, Ophthalmic genetics.

A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants

T. Ogata, H. Saitsu, Miho Sato, 2022, Ophthalmic genetics.

Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.

T. Ogata, H. Ohashi, G. Nishimura, 1999, The Journal of clinical endocrinology and metabolism.

Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: Molecular analysis in four patients

T. Ogata, K. Tachibana, Yukichi Tanaka, 1999, Genes, chromosomes & cancer.

X-linked lissencephaly with ambiguous genitalia: delineation of further case.

T. Ogata, J. Hata, N. Matsuo, 2000, American journal of medical genetics.

Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification

T. Ogata, Kazuki Saito, Yoko Tanaka, 2015, Journal of Human Genetics.

Nomenclature for alleles of the cytochrome P450 oxidoreductase gene.

M. Ingelman-Sundberg, T. Ogata, D. Nebert, 2009, Pharmacogenetics and genomics.

A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome.

T. Ogata, G. Iguchi, Yutaka Takahashi, 2014, Endocrine journal.

47,XXX male: A clinical and molecular study.

T. Ogata, K. Fukutani, K. Muroya, 2001, American journal of medical genetics.

Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation.

Y. Fukushima, G. Rappold, T. Ogata, 2000, American journal of medical genetics.

MAMLD1 (CXorf6): A New Gene Involved in Hypospadias

T. Ogata, J. Laporte, M. Fukami, 2009, Hormone Research in Paediatrics.

MAMLD1 (CXorf6): A New Gene for Hypospadias

T. Ogata, M. Fukami, Y. Wada, 2008, Sexual Development.

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.

G. Rappold, B. Niesler, T. Reinehr, 2002, The Journal of clinical endocrinology and metabolism.

Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp

T. Ogata, K. Nakabayashi, T. Urakami, 2015, Human Genome Variation.

Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development

T. Ogata, S. Ida, Y. Kojima, 2013, PloS one.

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations

M. Schuelke, T. Ogata, Ramona Jühlen, 2017, Journal of Medical Genetics.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

Z. Tümer, P. Lapunzina, T. Ogata, 2022, Clinical Epigenetics.

Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.

Machiko Kadoya, Y. Wada, T. Ogata, 2021, Endocrine journal.

Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development

T. Ogata, A. Ishiguro, M. Fukami, 2019, Cytogenetic and Genome Research.

Kagami–Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

T. Ogata, M. Hannibal, H. Saitsu, 2020, Journal of human genetics.

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis

T. Ogata, Hiroyuki Tanaka, Y. Matsubara, 2016, Journal of Human Genetics.

Aromatase excess syndrome in a family with upstream deletion of CYP19A1

T. Ogata, K. Nakabayashi, K. Nagasaki, 2014, Clinical endocrinology.

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities

H. Wada, T. Ogata, T. Urakami, 2014, Journal of Human Genetics.

Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding sites.

T. Ogata, K. Miyamoto, K. Fujieda, 2011, The Journal of clinical endocrinology and metabolism.

Hypergonadotropic Hypogonadism in a 3-Year-Old Girl with Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome

T. Ogata, Y. Hasegawa, T. Hasegawa, 1998, Hormone Research in Paediatrics.

Lack of genomic rearrangements involving the aromatase gene CYP19A1 in breast cancer

T. Ogata, S. Noguchi, K. Nakabayashi, 2014, Breast Cancer.

Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH

T. Ogata, Seiji Sato, N. Matsuo, 2000, Clinical endocrinology.

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

T. Ogata, H. Saitsu, M. Nakashima, 2022, Journal of Human Genetics.

A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.

H. Sasano, T. Ogata, Y. Sugimura, 2013, The Tohoku journal of experimental medicine.

Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.

K. Okamura, T. Ogata, Y. Matsubara, 2016, The Journal of clinical endocrinology and metabolism.

Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation

T. Ogata, N. Masawa, T. Nagai, 2008, Pediatric blood & cancer.

Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function.

T. Ogata, T. Hasegawa, Seiji Sato, 2003, European journal of endocrinology.

Mutation screening for the 5alpha-reductase type 2 gene in Japanese men with idiopathic azoospermia.

T. Ogata, T. Nakada, I. Sasagawa, 2002, Fertility and sterility.

Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system

K. Yamazawa, T. Ogata, A. Nakamura, 2022, Journal of Human Genetics.

Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.

T. Ogata, H. Saitsu, Takanobu Inoue, 2020, Endocrine journal.

Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome)

T. Ogata, K. Yoshimura, R. Yoshida, 2010, International journal of dermatology.

Acute myeloid leukemia in an adult Noonan syndrome patient with PTPN11 mutation

T. Ogata, R. Yoshida, T. Fukaya, 2005, American journal of hematology.

Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome

T. Ogata, Toshiaki Tanaka, T. Hasegawa, 2004, American journal of medical genetics. Part A.

A 3‐bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia

T. Ogata, T. Nagai, R. Yoshida, 2004, American journal of medical genetics. Part A.

Lymphstasis in a boy with Noonan syndrome: implication for the development of skeletal features.

T. Ogata, K. Kosaki, Y. Hasegawa, 2003, Endocrine journal.

NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty

K. Okamura, Takako Sasaki, M. Kubo, 2016, Sexual Development.

A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression

T. Ogata, A. Yamataka, R. Fukuzawa, 2013, Clinical endocrinology.

Fetal myocardial tissue Doppler indices before birth physiologically change in proportion to body size adjusted for gestational age in low-risk term pregnancies.

T. Ogata, H. Itoh, S. Iwashima, 2012, Early human development.

Lack of Mutations in P450scc Gene (CYP11A) in Six Japanese Patients with Congenital Lipoid Adrenal Hyperplasia

T. Ogata, Seiji Sato, N. Matsuo, 1995 .

Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation.

Y. Fukushima, T. Ogata, K. Muroya, 2002, American journal of medical genetics.

Growth references for Japanese individuals with Noonan syndrome

T. Ogata, T. Nakanishi, T. Hasegawa, 2015, Pediatric Research.

Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation

T. Ogata, Y. Matsubara, Y. Naiki, 2015, Hormone Research in Paediatrics.

Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation

T. Ogata, A. Ohtake, S. Amemiya, 2015, Endocrine.

SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome

T. Ogata, Satoshi Narumi, A. Nakamura, 2021, Journal of the Endocrine Society.

SOX10 mutation in Waardenburg syndrome type II

T. Ogata, N. Azuma, R. Horikawa, 2008, American journal of medical genetics. Part A.

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

Y. Fukushima, S. Fujimoto, T. Ogata, 2001, Journal of medical genetics.

Determination of specific activities and kinetic constants of biotinidase and lipoamidase in LEW rat and Lactobacillus casei (Shirota).

T. Ogata, Xiao‐Kang Li, H. Kimura, 2006, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Wide Range of Biotin (Vitamin H) Content in Foodstuffs and Powdered Milks as Assessed by High-performance Affinity Chromatography

T. Ogata, M. Hirano, K. Abe, 2009, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Determination of biotin (vitamin H) by the high-performance affinity chromatography with a trypsin-treated avidin-bound column.

T. Ogata, M. Hirano, T. Nagamine, 2008, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

M. Maghnie, Z. Tümer, T. Eggermann, 2017, Nature Reviews Endocrinology.

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

T. Ogata, H. Ohashi, S. Ikegawa, 2000, American journal of medical genetics.

Short report Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS 15 : further evidence for the assignment of the critical region for a pseudoautosomal growth gene ( s )

Y. Fukushima, G. Rappold, T. Ogata, 2022 .

Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.

T. Ogata, T. Hasegawa, T. Nagai, 2006, The Journal of clinical endocrinology and metabolism.

Cytochrome P450 Oxidoreductase Deficiency in Three Patients Initially Regarded as Having 21-Hydroxylase Deficiency and/or Aromatase Deficiency: Diagnostic Value of Urine Steroid Hormone Analysis

T. Ogata, G. Nishimura, T. Ohashi, 2006, Pediatric Research.

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

T. Ogata, K. Tachibana, Toshiaki Tanaka, 2005, The Journal of clinical endocrinology and metabolism.

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.

T. Ogata, K. Fujieda, G. Nishimura, 2009, The Journal of clinical endocrinology and metabolism.

SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature

T. Ogata, M. Fukami, A. Seki, 2016, Molecular Syndromology.

Genotype–phenotype correlation of PAX6 gene mutations in aniridia

T. Ogata, T. Yokoi, S. Nishina, 2016, Human Genome Variation.

SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.

T. Ogata, G. Nishimura, H. Kitoh, 2002, The Journal of clinical endocrinology and metabolism.

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

A. Rosenthal, A. Rump, G. Nordsiek, 1997, Nature Genetics.

HLA‐class II and class I genotypes among Japanese children with Type 1A diabetes and their families

K. Ihara, T. Ogata, K. Tokunaga, 2012, Pediatric diabetes.

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.

A. Ballabio, G. Rappold, T. Ogata, 1996, American journal of medical genetics.

Testicular histopathology in congenital lipoid adrenal hyperplasia: a light and electron microscopic study.

T. Ogata, Seiji Sato, N. Matsuo, 1997 .

The testicular lesion and sexual differentiation in congenital lipoid adrenal hyperplasia.

T. Ogata, N. Matsuo, M. Saito, 1989, Helvetica paediatrica acta.

CAG repeat length analysis and mutation screening of the androgen receptor gene in Japanese men with idiopathic azoospermia.

T. Ogata, T. Nakada, I. Sasagawa, 2001, Journal of andrology.

Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis.

P. Goodfellow, T. Ogata, C. Migeon, 1993, The Journal of clinical endocrinology and metabolism.

Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities.

T. Ogata, N. Kamatani, I. Sasagawa, 2007, Human reproduction.

Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.

T. Ogata, K. Tachibana, T. Yorifuji, 2001, The Journal of clinical endocrinology and metabolism.

Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases.

Y. Fukushima, T. Ogata, T. Okuyama, 2000, The Journal of clinical endocrinology and metabolism.

FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY

G. Rappold, T. Ogata, G. Lombardi, 2000, Journal of medical genetics.

Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency

G. Rappold, T. Ogata, G. Binder, 2016, EMBO molecular medicine.

Copy Number Variations of the Azoospermia Factor Region and SRY Are Not Associated with the Risk of Hypospadias

T. Mitsui, T. Ogata, N. Shinohara, 2016, Sexual Development.

A Track Record on SHOX: From Basic Research to Complex Models and Therapy

Tsutomu Ogata, Antonio Marchini, Gudrun A. Rappold, 2016, Endocrine reviews.

Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features

Tsutomu Ogata, Nobutake Matsuo, T. Ogata, 1995, Human Genetics.

SHOX haploinsufficiency: lessons from clinical studies

T. Ogata, 2002 .

SHOX haploinsufficiency and overdosage: impact of gonadal function status

T. Ogata, G. Nishimura, N. Matsuo, 2001, Journal of medical genetics.

SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis.

T. Ogata, 1999, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a male.

T. Ogata, N. Matsuo, N. Shimizu, 1990, American journal of medical genetics.

STX2 is a causative gene for nonobstructive azoospermia

T. Ogata, Y. Ueda, Shigeru Nakamura, 2018, Human mutation.

Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements

T. Ogata, A. Ohishi, F. Takada, 2014, Journal of Human Genetics.

Genitourinary phenotype in XX patients with distal 9p monosomy.

T. Ogata, Toshiaki Tanaka, T. Okuyama, 2004, Molecular genetics and metabolism.

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

T. Ogata, K. Tachibana, Y. Shishiba, 2004, The Journal of clinical endocrinology and metabolism.

Female gonadal development in XX patients with distal 9p monosomy.

T. Ogata, H. Ohashi, M. Kaji, 2001, European journal of endocrinology.

Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.

P. Goodfellow, T. Ogata, J. Hata, 1992, Journal of medical genetics.

[XX male].

T. Ogata, T. Nagai, 2006, Nihon rinsho. Japanese journal of clinical medicine.

Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia

T. Ogata, Yoshimi Suzuki, Y. Tsutsumi, 1998, Clinical genetics.

Chromosomal localisation of a Y specific growth gene(s).

T. Ogata, Y. Nakahori, N. Matsuo, 1995, Journal of medical genetics.

Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias

T. Ogata, H. Sone, J. Yonemoto, 2012, Journal of Human Genetics.

Short stature and azoospermia in a patient with Y chromosome long arm deletion

T. Ogata, G. Lupoli, G. Lombardi, 1997, Journal of endocrinological investigation.

Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta

Kenji Nakamura, T. Ogata, A. Ogura, 2008, Nature Genetics.

Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height

T. Ogata, N. Matsuo, 1993, Human Genetics.

Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development

T. Ogata, T. Hasegawa, M. Fukami, 2013, Developmental dynamics : an official publication of the American Association of Anatomists.

Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development.

Michiko Nakamura, T. Ogata, K. Morohashi, 2012, Endocrinology.

MAMLD1 and 46,XY Disorders of Sex Development

T. Ogata, M. Fukami, E. Nagata, 2012, Seminars in Reproductive Medicine.

Two-step biochemical differential diagnosis of classic 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants by GC-MS measurement of urinary pregnanetriolone/ tetrahydroxycortisone ratio and 11β-hydroxyandrosterone.

T. Ogata, M. Murata, T. Hasegawa, 2012, Clinical chemistry.

Spontaneous intraperitoneal renal rupture with urinoma formation in the fetus

T. Ogata, H. Sakai, J. Harada, 2021, Urology case reports.

Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1.

T. Ogata, I. Sasagawa, M. Fukami, 2006, Fertility and sterility.

Association of four imprinting disorders and ART

T. Ogata, H. Hiura, T. Arima, 2019, Clinical Epigenetics.

Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues

S. Takada, T. Ogata, Y. Matsubara, 2016, Human mutation.

Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location

T. Ogata, N. Affara, C. Sargent, 2001, Journal of medical genetics.

Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features

T. Ogata, K. Tachibana, K. Muroya, 2000, Human Genetics.

Sex determining gene on the X chromosome short arm: Dosage sensitive sex reversal

T. Ogata, N. Matsuo, 1996, Acta paediatrica Japonica : Overseas edition.

Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors.

T. Ogata, N. Kamatani, I. Sasagawa, 2005, The Journal of clinical endocrinology and metabolism.

Absence of Y chromosome microdeletions involving the DAZ (deleted in azoospermia) and RBM (ribonucleic acid-binding motif) genes in patients with chordee without hypospadias.

T. Ogata, T. Nakada, I. Sasagawa, 2000, Archives of andrology.

Computed tomography in the early detection of congenital lipoid adrenal hyperplasia

T. Ogata, N. Matsuo, E. Kohda, 2006, Pediatric Radiology.

TESTICULAR, HISTOPATHOLOGY IN CONGENITAL LIPOID ADRENAL HYPERPLASIA: A LIGHT AND ELECTION MICROSCOPIC STUDY

T. Ogata, N. Matsuo, A. Prader, 1993, Pediatric Research.

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients

T. Ogata, G. Nishimura, T. Hasegawa, 2014, Clinical endocrinology.

Genetic screening of Wnt signaling factors in advanced retinopathy of prematurity

T. Ogata, Hiroshi Takahashi, N. Azuma, 2010, Molecular vision.

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism

T. Ogata, N. Matsumoto, H. Ikeda, 2018, Human Genetics.

Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL.

T. Ogata, T. Hasegawa, E. Kinoshita, 2003, Endocrine journal.

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation.

V. Beneš, A. Ballabio, W. Ansorge, 2000, American journal of human genetics.

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

Julie V. Harness, K. Okamura, M. Esteller, 2014, Genome research.

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

T. Ogata, H. Saitsu, M. Nakashima, 2022, Journal of human genetics.

Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation.

T. Ogata, K. Kosaki, I. Fujiwara, 2006, Endocrine journal.

Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.

Y. Fukushima, T. Ogata, K. Kosaki, 1999, American journal of medical genetics.

(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty

T. Ogata, Toshiaki Tanaka, Y. Naiki, 2019, Human Genome Variation.

FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes

G. Rappold, T. Ogata, E. Rao, 1997, Human Genetics.

Microdeletion in the SHOX 3′ region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri–Weill dyschondrosteosis in her 46,XX mother: Implication for the SHOX enhancer

T. Ogata, T. Okuyama, G. Nishimura, 2005, American journal of medical genetics. Part A.

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

T. Ogata, K. Ito, H. Ohashi, 2000, Kidney international.

The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers

A. Green, M. O'sullivan, A. Ferguson-Smith, 2010, PLoS genetics.

Molecular Mechanisms Leading to the Phenotypic Development in Paternal and Maternal Uniparental Disomy for Chromosome 14

T. Ogata, M. Kagami, 2008, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14

A. Ferguson-Smith, T. Ogata, M. Kagami, 2008, Epigenetics.

Genomic imprinting at the mammalian Dlk1-Dio3 domain.

A. Ferguson-Smith, C. Edwards, T. Ogata, 2008, Trends in genetics : TIG.

Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.

S. Takada, T. Ogata, M. Shiina, 2019, Journal of the American Society of Nephrology : JASN.

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

G. Rappold, T. Ogata, C. Thiel, 2018, European Journal of Human Genetics.

MLL2 and KDM6A mutations in patients with Kabuki syndrome

N. Niikawa, M. Tekin, K. Ihara, 2013, American journal of medical genetics. Part A.

Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome

T. Ogata, T. Fukuda, Miki Asahina, 2016, Brain and Development.

Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development.

T. Ogata, Yoriko Watanabe, Hiroyuki Ono, 2013, Endocrine journal.

Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome

K. Yamazawa, T. Ogata, K. Hata, 2013, PloS one.

Paternal uniparental disomy 14 and related disorders

T. Ogata, K. Matsuoka, K. Kurosawa, 2012, Epigenetics.

Placentomegaly in paternal uniparental disomy for human chromosome 14.

K. Yamazawa, T. Ogata, N. Matsuo, 2008, Placenta.

Placental hypoplasia in maternal uniparental disomy for chromosome 7

K. Yamazawa, T. Ogata, R. Horikawa, 2008, American journal of medical genetics. Part A.

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

T. Ogata, H. Saitsu, M. Kagami, 2020, Clinical case reports.

FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism

T. Ogata, H. Saitsu, M. Fukami, 2018, American journal of medical genetics. Part A.

SHOX far‐downstream deletion in a patient with nonsyndromic short stature

T. Ogata, T. Kamimaki, M. Fukami, 2022, American journal of medical genetics. Part A.

A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads

T. Ogata, M. Sekine, T. Akashi, 2015, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens.

T. Ogata, Toshiaki Tanaka, N. Haga, 2004, Endocrine journal.

Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.

Y. Fukushima, T. Ogata, K. Wakui, 2000, The Journal of clinical endocrinology and metabolism.

Familial Klippel–Feil anomaly and t(5;8)(q35.1;p21.1) translocation

K. Yamazawa, T. Ogata, G. Nishimura, 2006, American journal of medical genetics. Part A.

Abnormal urethra formation in mouse models of Split-hand/split-foot malformation type 1 and type 4

T. Ogata, A. Mills, G. Levi, 2007, European Journal of Human Genetics.

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

K. Yamazawa, T. Ogata, A. Oka, 2017, Clinical Epigenetics.

Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

T. Ogata, H. Luk, A. Nakamura, 2016, American journal of medical genetics. Part A.

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype

T. Ogata, S. Mizuno, K. Nakabayashi, 2014, European Journal of Human Genetics.

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)

T. Ogata, K. Matsuoka, F. Ishino, 2015, European Journal of Human Genetics.

Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

T. Ogata, M. Kagami, 2015, Journal of Human Genetics.

Prenatal findings of paternal uniparental disomy 14: Delineation of further patient

T. Ogata, N. Suzumori, M. Sugiura-Ogasawara, 2010, American journal of medical genetics. Part A.

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

T. Ogata, G. Nishimura, Tomoko Sato, 2012, European Journal of Human Genetics.

Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years

T. Ogata, T. Arima, M. Kagami, 2020, Clinical Epigenetics.

Association of four imprinting disorders and ART

T. Ogata, H. Hiura, T. Arima, 2019, Clinical Epigenetics.

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

K. Okamura, T. Ogata, K. Hata, 2016, Genetics in Medicine.

Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome

T. Ogata, G. Houge, M. Kagami, 2017, Clinical case reports.

Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14

T. Ogata, G. Nishimura, M. Kagami, 2011, Pediatric Radiology.

Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.

T. Ogata, Yoshiya Ito, Toshiaki Tanaka, 2014, The Journal of clinical endocrinology and metabolism.

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

J. Gusella, R. Quinton, Hyung-Goo Kim, 2015, The Journal of clinical endocrinology and metabolism.

Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia

T. Ogata, H. Saitsu, K. Aoto, 2021, Clinical epigenetics.

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype

K. Yamazawa, T. Ogata, S. Saitoh, 2010, Journal of Medical Genetics.

Androgenetic/biparental mosaicism in a girl with Beckwith–Wiedemann syndrome-like and upd(14)pat-like phenotypes

K. Yamazawa, T. Ogata, K. Matsuoka, 2011, Journal of Human Genetics.

Kagami–Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

T. Ogata, M. Hannibal, H. Saitsu, 2020, Journal of Human Genetics.

Aneuploid rescue precedes X-chromosome inactivation and increases the incidence of its skewness by reducing the size of the embryonic progenitor cell pool.

T. Ogata, H. Akutsu, M. Kagami, 2019, Human reproduction.

Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions

K. Yamazawa, T. Ogata, K. Hata, 2015, Clinical Epigenetics.

Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

A. Ballabio, T. Ogata, B. Franco, 2005, American journal of medical genetics. Part A.

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Jan-Fang Cheng, Naomichi Matsumoto, Kenji Kurosawa, 2003, Human mutation.

Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.

T. Ogata, K. Morohashi, H. Kondoh, 2007, European journal of endocrinology.

SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation

T. Ogata, H. Mikami, M. Igarashi, 2015, Sexual Development.

Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.

T. Ogata, A. Umezawa, K. Hata, 2014, Fertility and sterility.

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

T. Ogata, H. Saitsu, S. Iijima, 2019, Journal of Human Genetics.

Mastermind-like Domain-containing 1 (MAMLD1 or CXorf6) Transactivates the Hes3 Promoter, Augments Testosterone Production, and Contains the SF1 Target Sequence*

T. Ogata, M. Kitagawa, K. Morohashi, 2008, Journal of Biological Chemistry.

Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns.

T. Ogata, B. Ishizuka, T. Maruyama, 2009, Fertility and sterility.

Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat‐like phenotype

T. Ogata, R. Kosaki, K. Kurosawa, 2014, American journal of medical genetics. Part A.

Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype

T. Ogata, S. Saitoh, K. Hosoki, 2008, European Journal of Human Genetics.

Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome

K. Yamazawa, T. Ogata, S. Saitoh, 2020, Clinical epigenetics.

Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR

S. Takada, T. Ogata, K. Matsuoka, 2019, Clinical Epigenetics.

Maternal age effect on the development of Prader–Willi syndrome resulting from upd(15)mat through meiosis 1 errors

T. Ogata, T. Nagai, N. Murakami, 2011, Journal of Human Genetics.

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.

Y. Fukushima, T. Ogata, Kyoko Takano, 2018, The Journal of clinical endocrinology and metabolism.

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I

T. Ogata, K. Nagasaki, A. Nakamura, 2017, Journal of the Endocrine Society.

Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib.

T. Ogata, M. Kagami, M. Fukami, 2015, Endocrine journal.

Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification.

T. Ogata, A. Saitoh, K. Nagasaki, 2013, Endocrine journal.

A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth

T. Ogata, K. Nakabayashi, K. Kurosawa, 2018, Journal of Medical Genetics.

Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions

N. Niikawa, T. Ogata, N. Matsumoto, 2003, Journal of medical genetics.

Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader–Willi syndrome due to UPD(15)mat

T. Ogata, T. Nagai, N. Murakami, 2016, Clinical genetics.

A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.

T. Ogata, T. Hasegawa, N. Katsumata, 2013, Endocrine journal.

Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome

K. Yamazawa, T. Ogata, Takanobu Inoue, 2020, Journal of Medical Genetics.

Mosaic upd(7)mat in a patient with Silver–Russell syndrome

K. Yamazawa, T. Ogata, K. Matsuoka, 2012, American journal of medical genetics. Part A.

Beckwith–Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

T. Ogata, K. Hata, K. Nakabayashi, 2016, Journal of Human Genetics.

Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature.

T. Ogata, K. Fujieda, M. Itakura, 2011, The Journal of clinical endocrinology and metabolism.

Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.

T. Ogata, K. Kosaki, Taichi A. Suzuki, 2004, Fertility and sterility.

Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

Machiko Kadoya, Y. Wada, T. Ogata, 2022, Scientific Reports.

Craniosynostosis with extra copy of MSX2 in a patient with partial 5q‐trisomy

T. Shiihara, T. Ogata, Mitsuhiro Kato, 2004, American journal of medical genetics. Part A.

Rationale and study design of the Japan environment and children’s study (JECS)

Naoya Tsukamoto, Yasuyuki Shibata, Reiko Kishi, 2014, BMC Public Health.

Hypothalamic Dysfunction in a Female with Isolated Hypogonadotropic Hypogonadism and Compound Heterozygous TACR3 Mutations and Clinical Manifestation in Her Heterozygous Mother

T. Ogata, Y. Yoshimura, M. Fukami, 2010, Hormone Research in Paediatrics.

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

O. Migita, P. Lapunzina, T. Ogata, 2016, Human Genetics.

Complex genomic rearrangement in the SOX9 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula

S. Takada, T. Ogata, G. Nishimura, 2012, American journal of medical genetics. Part A.

FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split‐Hand/Foot Malformation: Implications for the Promoter Region

T. Ogata, H. Miyoshi, Y. Hasegawa, 2017, Human mutation.

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

S. Takada, T. Ogata, K. Yoshiura, 2014, Orphanet Journal of Rare Diseases.

Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression.

H. Burger, M. Wabitsch, T. Ogata, 2013, The Journal of clinical endocrinology and metabolism.

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9

S. Takada, T. Ogata, Y. Matsubara, 2015, Molecular genetics & genomic medicine.

Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations

H. Kurahashi, T. Ogata, T. Kamimaki, 2017, Cytogenetic and Genome Research.

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

T. Ogata, N. Matsumoto, J. Tohyama, 2019, Journal of Human Genetics.

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Y. Fukushima, T. Morio, H. Kurahashi, 2022, Journal of Human Genetics.

ACAN biallelic variants in a girl with severe idiopathic short stature

T. Ogata, H. Saitsu, G. Nishimura, 2022, Journal of Human Genetics.

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing

T. Ogata, H. Sugimura, H. Saitsu, 2021, Clinical genetics.

A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency

A. Wyatt, M. Phillip, T. Ogata, 2010, Human Genetics.

MAMLD1 (CXorf6) is a New Gene for Hypospadias

T. Ogata, M. Fukami, Y. Wada, 2008, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.

A. Takata, T. Ogata, N. Matsumoto, 2019, Human molecular genetics.

Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.

T. Mitsui, T. Ogata, Y. Matsubara, 2015, Human reproduction.

Pseudoautosomal gene SHOX exhibits sex-biased random monoallelic expression and contributes to sex difference in height

K. Okamura, T. Ogata, A. Umezawa, 2021, bioRxiv.

Female carriers of Xp22.3 deletion including MRX locus.

T. Ogata, K. Muroya, M. Matsuo, 1999, American journal of medical genetics.

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing

T. Ogata, H. Saitsu, M. Nakashima, 2022, Journal of Human Genetics.

Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites

T. Ogata, M. Murata, T. Hasegawa, 2016, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

S. Humphray, Z. Kingsbury, A. Vanderver, 2017, neurogenetics.

A Chronic Graft-versus-host Disease Case after Improvement of Basedow's Disease developed after Allogeneic Bone Marrow Transplantation

T. Ogata, E. Satake, R. Matsushita, 2016 .

Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency

Sarah Wong, T. Ogata, C. Giulivi, 2014, BBA clinical.

Association of Primary Ovarian Insufficiency with a Specific Human Leukocyte Antigen Haplotype (A*24:02-C*03:03-B*35:01) in Japanese Women

T. Ogata, R. Yoshida, Y. Yoshimura, 2011, Sexual Development.

Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome

T. Ogata, K. Kosaki, H. Saitsu, 2021, Journal of Human Genetics.

Variants associated with autoimmune Type 1 diabetes in Japanese children: implications for age‐specific effects of cis‐regulatory haplotypes at 17q12‐q21

K. Ihara, T. Ogata, I. Yokota, 2016, Diabetic medicine : a journal of the British Diabetic Association.

Refinement of the locus for X-linked recessive chondrodysplasia punctata

Y. Fukushima, G. Rappold, T. Ogata, 1995, Human Genetics.

Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus.

P. Goodfellow, C. Petit, T. Ogata, 1993, American journal of medical genetics.

Haplotype analysis of ESR2 in Japanese patients with spermatogenic failure

T. Ogata, R. Yoshida, Y. Yoshimura, 2012, Journal of Human Genetics.

Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis.

T. Ogata, H. Moriuchi, Yoko Tanaka, 2011, Endocrine journal.

Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s)

Y. Fukushima, G. Rappold, T. Ogata, 1995, Journal of medical genetics.

ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance

S. Takada, T. Ogata, H. Saitsu, 2021, Clinical epigenetics.

Human glutathione S‐transferase A (GSTA) family genes are regulated by steroidogenic factor 1 (SF‐1) and are involved in steroidogenesis

T. Ogata, K. Miyamoto, A. Umezawa, 2013, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1.

T. Ogata, T. Hasegawa, Y. Wada, 2005, Endocrine journal.

Skeletal Deformity Associated with SHOX Deficiency

T. Ogata, M. Fukami, S. Takayama, 2014, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

T. Ogata, S. Okada, Sonoko Sakata, 2017, Front. Genet..

Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma

T. Ogata, Hiroyuki Ono, M. Kagami, 2016, The Journal of Steroid Biochemistry and Molecular Biology.

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia

T. Ogata, H. Ohashi, S. Ikegawa, 2006, Journal of Human Genetics.

Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene★

T. Ogata, T. Nakada, I. Sasagawa, 2001, Clinical endocrinology.

Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.

T. Ogata, T. Hasegawa, Y. Yoshimura, 2005, Human reproduction.

Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.

T. Ogata, M. Ono, M. Kaji, 2010, The Journal of clinical endocrinology and metabolism.

Growth Hormone Analog Therapy in and Gonadotropin-Releasing Haploinsufficiency of SHOX Hormone

Rappold, T. Ogata, Gudrun, 2006 .

Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX.

G. Rappold, T. Ogata, N. Matsuo, 2001, Endocrine journal.

Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia

T. Ogata, Satoshi Narumi, Y. Fujisawa, 2020, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

C. Tyler-Smith, T. Ogata, G. Turner, 1993, Journal of medical genetics.

Chromosomal localisation of a pseudoautosomal growth gene(s).

P. Goodfellow, P. Goodfellow, C. Petit, 1992, Journal of medical genetics.

De novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency

T. Ogata, A. Umezawa, K. Hata, 2013, Hormone Research in Paediatrics.

Abstracts from the 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society (APPES) and the 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE)

T. Ogata, N. Kamatani, I. Yokota, 2017, International Journal of Pediatric Endocrinology.

Mutation and Polymorphism Analyses of INSL3 and LGR8/GREAT in 62 Japanese Patients with Cryptorchidism

K. Yamazawa, T. Ogata, I. Sasagawa, 2006, Hormone Research in Paediatrics.

Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT‐1 gene in Japanese identical twins with mild combined pituitary hormone deficiency

T. Ogata, K. Fujieda, M. Itakura, 2012, Clinical endocrinology.

Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis.

T. Ogata, T. Hasegawa, Seiji Sato, 2004, The Journal of urology.

Androgen Receptor Gene and Male Genital Anomaly

T. Ogata, I. Sasagawa, K. Muroya, 2002, Archives of andrology.

GATA3 abnormalities in six patients with HDR syndrome.

T. Ogata, Yoshimi Suzuki, K. Muroya, 2011, Endocrine journal.

Identification of Novel Low-Dose Bisphenol A Targets in Human Foreskin Fibroblast Cells Derived from Hypospadias Patients

T. Ogata, H. Sone, J. Yonemoto, 2012, PloS one.

Turner stigmata on Yp . Chromosomal localisation of a gene ( s ) for

C. Tyler-Smith, T. Ogata, G. Turner, 2022 .

Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development

T. Ogata, K. Tachibana, K. Muroya, 2000, Human Genetics.

Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency.

T. Ogata, M. Inokuchi, M. Ogawa, 2002, European journal of endocrinology.

Early vitamin K deficiency bleeding in a neonate associated with maternal Crohn’s disease

T. Ogata, S. Iijima, A. Ohishi, 2014, Journal of Perinatology.

Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata

Y. Fukushima, T. Ogata, Y. Nakahori, 1996, Human Genetics.

Ovulation induction in a woman with premature ovarian failure resulting from a partial deletion of the X chromosome long arm, 46,X,del(X)(q22).

T. Ogata, A. Amemiya, B. Ishizuka, 1997, Fertility and sterility.

Intrauterine Hyponutrition Reduces Fetal Testosterone Production and Postnatal Sperm Count in the Mouse

T. Ogata, K. Morohashi, Y. Katoh-Fukui, 2022, Journal of the Endocrine Society.

Magnetic resonance imaging in neonates with total asphyxia

K. Yokochi, T. Ogata, H. Sugiura, 2013, Brain and Development.

Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns.

T. Ogata, K. Kosaki, K. Muroya, 2000, American journal of medical genetics.

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism

T. Ogata, N. Matsumoto, T. Nomura, 2016, Journal of Human Genetics.

Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial

T. Ogata, K. Ozono, S. Okada, 2017, Clinical endocrinology.

Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms

T. Ogata, K. Ozono, Hiroyuki Ono, 2020, Frontiers in Endocrinology.

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa

Y. Wada, S. Nomura, T. Ogata, 2022, Genes.

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

Mahshid S. Azamian, S. Lalani, T. Ogata, 2021, Frontiers in Cell and Developmental Biology.

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

S. Takada, T. Ogata, R. Kosaki, 2019, European Journal of Human Genetics.

Protein‐altering variants of PTPN2 in childhood‐onset Type 1A diabetes

K. Okamura, Y. Momozawa, T. Ogata, 2018, Diabetic medicine : a journal of the British Diabetic Association.

MLL2 and KDM6A Mutations in Patients With

N. Niikawa, M. Tekin, K. Ihara, 2013 .

Estrogen receptor alpha gene polymorphism is associated with idiopathic azoospermia.

T. Ogata, I. Sasagawa, K. Muroya, 2002, Fertility and sterility.

Normally Sustained Growth in a Boy with Panhypopituitarism: A Case Report

T. Ogata, Y. Hasegawa, Seiji Sato, 1998 .

Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.

T. Ogata, T. Kawai, H. Saitsu, 2019, European journal of medical genetics.

Testicular volume in Japanese boys up to the age of 15 years

T. Ogata, T. Kamimaki, Seiji Sato, 2000, European Journal of Pediatrics.

Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son.

T. Ogata, K. Ohyama, M. Fukami, 2006, The Journal of clinical endocrinology and metabolism.

Refined mapping of the gene for otopalatodigital syndrome type I

T. Ogata, H. Ohashi, K. Muroya, 2002, Journal of medical genetics.

OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.

T. Ogata, M. Adachi, M. Fukami, 2008, The Journal of clinical endocrinology and metabolism.

Hemodynamic assessment in a child with renovascular hypertension using time‐resolved three‐dimensional cine phase‐contrast MRI

Kevin M. Johnson, O. Wieben, H. Sakahara, 2015, Journal of magnetic resonance imaging : JMRI.

Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.

T. Takumi, T. Ogata, N. Iwatani, 1999, Diabetes.

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations

S. Minoshima, T. Ogata, H. Saitsu, 2018, Japanese Journal of Ophthalmology.

Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality

H. Kanegane, Y. Makino, T. Ogata, 2023, Frontiers in Immunology.

Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus

T. Ogata, H. Saitsu, K. Nakabayashi, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

SHOX haploinsufficiency and its modifying factors.

T. Ogata, 2002, Journal of pediatric endocrinology & metabolism : JPEM.

A case of skeletal dysplasia with advanced carpal ossification and “monkey wrench” appearance of the femora: mild Desbuquois dysplasia?

T. Ogata, G. Nishimura, N. Matsuo, 2006, European Journal of Pediatrics.

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

K. Yamazawa, T. Ogata, Takanobu Inoue, 2017, Clinical Epigenetics.

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

G. Rappold, T. Ogata, C. Thiel, 2018, European Journal of Human Genetics.

Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency

K. Nagao, C. Obuse, T. Ogata, 2020, Scientific Reports.

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature

T. Ogata, S. Kanzaki, Y. Naiki, 2015, Journal of Human Genetics.

Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia

T. Ogata, K. Nakabayashi, G. Nishimura, 2014, American journal of medical genetics. Part A.

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis

T. Ogata, Y. Hasegawa, R. Horikawa, 2008, Journal of Human Genetics.

Transactivation function of an ∼800-bp evolutionarily conserved sequence at the SHOX 3' region : Implication for the downstream enhancer

T. Ogata, T. Tajima, S. Yokoya, 2006 .

Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer.

T. Ogata, T. Tajima, S. Yokoya, 2006, American journal of human genetics.

POLR3A variants in striatal involvement without diffuse hypomyelination

T. Ogata, H. Saitsu, M. Nakashima, 2020, Brain & development (Tokyo. 1979).

Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader–Willi syndrome

T. Ogata, T. Tsuchiya, T. Nagai, 2012, American journal of medical genetics. Part A.

Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification.

T. Ogata, G. Nishimura, N. Matsuo, 1990, American journal of medical genetics.

Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate- or large-for-gestational age

T. Ogata, I. Yokota, T. Kawamura, 2016, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Random X chromosome inactivation in patients with Klinefelter syndrome

T. Ogata, Y. Kobori, M. Fukami, 2020, Molecular and Cellular Pediatrics.

Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non‐obese diabetic mouse, in patients with type 1 diabetes

T. Ogata, I. Yokota, Y. Matsubara, 2016, Journal of diabetes investigation.

Mental Retardation in A Girl with Turner's Syndrome with An Active Ring X Chromosome Missing XIST

T. Ogata, S. Yokoya, A. Yoshizawa, 2001 .

KLF11 variant in a family clinically diagnosed with early childhood‐onset type 1B diabetes

T. Ogata, Y. Horikawa, I. Yokota, 2019, Pediatric diabetes.

PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.

T. Ogata, A. Saitoh, Tomoko Iida, 2012, The Journal of clinical endocrinology and metabolism.

48 TARGET HEIGHT AND TARGET RANGE FOR THE JAPANESE : REVISITED

T. Ogata, Toshiaki Tanaka, M. Kagami, 2003 .

Possible contribution of fetal size and gestational age to myocardial tissue Doppler velocities in preterm fetuses.

T. Ogata, H. Itoh, S. Iwashima, 2013, European journal of obstetrics, gynecology, and reproductive biology.

MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female.

T. Ogata, B. Mendonca, S. Domenice, 2011, Advances in experimental medicine and biology.

Advanced Maternal Age and the Development of Prader-Willi Syndrome Resulting from Upd(15)mat through Non-Disjunction at Meiosis 1

T. Ogata, T. Nagai, N. Murakami, 2011 .

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

K. Yamazawa, T. Ogata, Takanobu Inoue, 2020, Clinical Epigenetics.

MAMLD1 and Differences/Disorders of Sex Development: An Update

T. Ogata, M. Fukami, M. Miyado, 2021, Sexual Development.

GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly

T. Ogata, Y. Kojima, Y. Hayashi, 2018, Asian journal of andrology.

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

T. Ogata, H. Saitsu, K. Yanagi, 2018, Scientific Reports.

TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

K. Nakayama, T. Ogata, Y. Matsubara, 2014, PloS one.

Identification and functional analysis of novel human growth hormone–releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature

T. Ogata, K. Fujieda, M. Itakura, 2011, Clinical endocrinology.

Parturition failure in mice lacking Mamld1

T. Ogata, K. Miyado, M. Fukami, 2015, Scientific Reports.

FUT2 non‐secretor status is associated with Type 1 diabetes susceptibility in Japanese children

K. Ihara, T. Ogata, Toshikazu Takahashi, 2017, Diabetic medicine : a journal of the British Diabetic Association.

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

M. Maghnie, Z. Tümer, T. Eggermann, 2017, Nature Reviews Endocrinology.

Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan.

T. Ogata, N. Haga, H. Kitoh, 2020, Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association.

Glucose-6-Phosphate Dehydrogenase Deficiency and Adrenal Hemorrhage in a Filipino Neonate with Hyperbilirubinemia

T. Ogata, A. Ohishi, D. Ueno, 2012, American Journal of Perinatology Reports.

Target Height and Target Range for Japanese Children: Revisited

T. Ogata, Toshiaki Tanaka, M. Kagami, 2007, Clinical Pediatric Endocrinology.

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

T. Ogata, H. Saitsu, S. Iijima, 2019, Journal of Human Genetics.

Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review

T. Ogata, H. Saitsu, S. Sano, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia

T. Ogata, H. Saitsu, S. Okada, 2022, American journal of medical genetics. Part A.

Steroidogenic pathways involved in androgen biosynthesis in eumenorrheic women and patients with polycystic ovary syndrome

T. Ogata, T. Iwasa, T. Matsuzaki, 2016, The Journal of Steroid Biochemistry and Molecular Biology.

Blood allopregnanolone levels in women with polycystic ovary syndrome

T. Ogata, T. Iwasa, T. Matsuzaki, 2016, Clinical Endocrinology.

Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiency

T. Ogata, T. Hasegawa, Hiroyuki Ono, 2017, The Journal of Steroid Biochemistry and Molecular Biology.

Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and Fertility

T. Ogata, Kazuki Saito, K. Miyado, 2017, International journal of molecular sciences.

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

T. Ogata, H. Saitsu, K. Yanagi, 2018, Scientific Reports.

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)

T. Ogata, K. Matsuoka, F. Ishino, 2015, European Journal of Human Genetics.

CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

L. Hoefsloot, W. Crowley, T. Ogata, 2009, Clinical genetics.

NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism

T. Ogata, Y. Katoh-Fukui, M. Fukami, 2021, Human genome variation.

Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes

K. Yamazawa, T. Ogata, A. Nakamura, 2023, Clinical Epigenetics.

Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation.

Maki Fukami, Tsutomu Ogata, Mitsuo Itakura, 2010, Endocrine journal.

Genomewide Array Comparative Genomic Hybridization in 55 JapaneseNormokaryotypic Patients with Non-Syndromic Intellectual Disability

T. Ogata, T. Fukuda, Miki Asahina, 2016 .

Testis determining gene(s) on the X chromosome short arm: chromosomal localisation and possible role in testis determination.

T. Ogata, N. Matsuo, 1994, Journal of medical genetics.

Long‐term follow‐up study for a patient with Floating–Harbor syndrome due to a hotspot SRCAP mutation

T. Ogata, A. Saitoh, T. Kikuchi, 2014, American journal of medical genetics. Part A.

Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.

T. Ogata, K. Morohashi, K. Fukutani, 2004, The Journal of clinical endocrinology and metabolism.

A case of XYY syndrome with short stature.

T. Ogata, Z. Kizaki, Y. Tokunaga, 1996, Endocrine journal.

CAG repeat length of the androgen receptor gene in Japanese males with cryptorchidism.

T. Ogata, T. Nakada, I. Sasagawa, 2000, Molecular human reproduction.

Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias

Michiko Nakamura, T. Ogata, Y. Kojima, 2015, Sexual Development.

Mamld1 Knockdown Reduces Testosterone Production and Cyp17a1 Expression in Mouse Leydig Tumor Cells

Michiko Nakamura, T. Ogata, K. Nonomura, 2011, PloS one.

A Track Record on SHOX: From Basic Research to Complex Models and Therapy

G. Rappold, T. Ogata, A. Marchini, 2016, Endocrine reviews.

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

T. Ogata, N. Matsumoto, J. Tohyama, 2019, Journal of Human Genetics.

HLA‐class II and class I genotypes among Japanese children with Type 1A diabetes and their families

K. Ihara, T. Ogata, K. Tokunaga, 2012, Pediatric diabetes.

Growth references for Japanese individuals with Noonan syndrome

T. Ogata, T. Nakanishi, T. Hasegawa, 2015, Pediatric Research.

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

K. Nakayama, T. Ogata, T. Ogura, 2013, American journal of human genetics.

Diaphyseal medullary stenosis with malignant fibrous histiocytoma: Further evidence for loss of heterozygosity involving 9p21‐22 in tumor tissue

T. Ogata, T. Hasegawa, G. Nishimura, 2002, Genes, chromosomes & cancer.

Pathogenic copy number and sequence variants in children born SGA with short stature without imprinting disorders.

K. Yamazawa, T. Ogata, A. Nakamura, 2022, The Journal of clinical endocrinology and metabolism.