A. Nakamura

发表

Successful kidney transplantation in a patient with neonatal‐onset ILNEB

Y. Ogawa, K. Yanagi, K. Natsuga, 2021, Pediatric transplantation.

Adrenal function during long‐term ACTH therapy for patients with developmental and epileptic encephalopathy

H. Shiraishi, Kiyoshi Egawa, A. Nakamura, 2021, Epilepsia open.

Long-Term Effect of Aromatase Inhibition in Aromatase Excess Syndrome

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

Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1.

T. Hamajima, T. Tajima, S. Hara, 2013, Endocrine journal.

Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations.

T. Tajima, A. Nakamura, K. Ishizu, 2013, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations

T. Tajima, A. Nakamura, K. Ishizu, 2013, Clinical Pediatric Endocrinology.

Development of Endometrial Carcinoma in a Patient with Leprechaunism (Donohue Syndrome)

Yosuke Konno, S. Sudo, T. Tajima, 2013, Clinical Pediatric Endocrinology.

Development of endometrial carcinoma in a patient with leprechaunism (donohue syndrome).

Yosuke Konno, S. Sudo, T. Tajima, 2013, 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.

Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.

T. Tajima, A. Nakamura, T. Hotsubo, 2013, The Journal of clinical endocrinology and metabolism.

A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome

T. Ariga, T. Tajima, A. Nakamura, 2017, Pediatric diabetes.

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.

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.

Hypoglycemia in type 1A diabetes can develop before insulin therapy: A retrospective cohort study.

Y. Hasegawa, A. Nakamura, Takeshi Yamaguchi, 2019, Diabetes research and clinical practice.

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome

K. Okamura, Y. Matsubara, T. Kaname, 2018, Human Genome Variation.

Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.

T. Hasegawa, T. Tajima, T. Hattori, 2013, Endocrine journal.

Burosumab Improved Histomorphometric Measures of Osteomalacia in Adults with X‐Linked Hypophosphatemia: A Phase 3, Single‐Arm, International Trial

J. S. San Martin, F. Rauch, T. Kubota, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Early Onset of Liver Steatosis in a Japanese Girl with Maturity-Onset Diabetes of the Young Type 3 (MODY3)

T. Tajima, A. Nakamura, Katsura İshidu, 2012, Journal of clinical research in pediatric endocrinology.

Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations

T. Tajima, A. Nakamura, M. Nakajima, 2018, Case reports in pediatrics.

Recent advances in research on isolated congenital central hypothyroidism

T. Tajima, A. Nakamura, Makiko Oguma, 2019, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.

D. Bernard, T. Tajima, A. Nakamura, 2013, The Journal of clinical endocrinology and metabolism.

A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.

T. Tajima, A. Nakamura, K. Ishizu, 2013, Endocrine journal.

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.

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.

SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.

Y. Matsubara, Y. Wada, Akira Ishii, 2017, Endocrine journal.

NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty

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

SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome

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

Case of miliaria rubra histologically showing neutrophilic eccrine hidradenitis due to hyperhidrosis induced by a catecholamine‐producing neuroblastoma

H. Shimizu, S. Honda, A. Nakamura, 2020, The Journal of dermatology.

STX2 is a causative gene for nonobstructive azoospermia

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

Clinical features and molecular basis of pseudohypoaldosteronism type 1

T. Tajima, A. Nakamura, S. Morikawa, 2017, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)

Hironori Kobayashi, T. Tajima, K. Nagasaki, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

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

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

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1

T. Tajima, A. Nakamura, K. Uetake, 2015, American journal of medical genetics. Part A.

A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young.

T. Tajima, A. Nakamura, W. Jo, 2011, The Tohoku journal of experimental medicine.

A Novel PAX 4 Mutation in a Japanese Patient with Maturity-Onset Diabetes of the

T. Tajima, A. Nakamura, M. Endo, 2011 .

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.

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

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

Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ

T. Yamagata, T. Tajima, A. Nakamura, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism

A. Nakamura, M. Kagami, M. Fukami, 2018, Journal of Human Genetics.

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 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.

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

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

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.

Continuous hypomethylation of the KCNQ1OT1:TSS‐DMR in monochorionic twins discordant for Beckwith‐Wiedemann syndrome

Takanobu Inoue, A. Oka, K. Nagasaki, 2017, American journal of medical genetics. Part A.

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.

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

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

A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome

Ş. Hatun, A. Nakamura, M. Fukami, 2015, Journal of clinical research in pediatric endocrinology.

A Novel De Novo Gata3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness and Renal Dysplasia Syndrome

Ş. Hatun, A. Nakamura, M. Fukami, 2015 .

A rare association between Rathke’s cyst and hypophysitis in a patient with delayed sex development and growth failure

T. Tajima, K. Kubota, A. Nakamura, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

Results from 28 Years of Newborn Screening for Congenital Adrenal Hyperplasia in Sapporo

T. Tajima, A. Nakamura, T. Hotsubo, 2014, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Results from 28 years of newborn screening for congenital adrenal hyperplasia in Sapporo City

T. Tajima, A. Nakamura, T. Hotsubo, 2013, International Journal of Pediatric Endocrinology.

Investigation of TSH receptor blocking antibodies in childhood-onset atrophic autoimmune thyroiditis

K. Kashimada, H. Kamasaki, Y. Hara, 2021, Clinical Pediatric Endocrinology.

Next‐generation sequencing for patients with non‐obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations

K. Okamura, Y. Matsubara, K. Hata, 2017, Andrology.

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.

Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies

T. Tajima, Minako Sugiyama, A. Nakamura, 2011, Pediatric reports.

Neonatal screening and a new cause of congenital central hypothyroidism

T. Tajima, A. Nakamura, S. Morikawa, 2014, Annals of pediatric endocrinology & metabolism.

Nephrocalcinosis and Placental Findings in Neonatal Bartter Syndrome

Makoto Nakamura, M. Kageyama, T. Tajima, 2012, American Journal of Perinatology Reports.

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.

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.

Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations

T. Tajima, A. Nakamura, K. Ishizu, 2013, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

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.

A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation

T. Tajima, A. Nakamura, Takeshi Yamaguchi, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

A Japanese family with nonautoimmune hyperthyroidism caused by a novel heterozygous thyrotropin receptor gene mutation

T. Tajima, A. Nakamura, S. Morikawa, 2014, Pediatric Research.

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.

Polyarthritis Caused by Methimazole in Two Japanese Patients with Graves’ Disease

M. Kato, T. Hamajima, T. Tajima, 2013, Journal of clinical research in pediatric endocrinology.

A. Okamoto, M. Nakajima, S. Ikegawa, 2019, American journal of medical genetics. Part A.

Targeted next-generation sequencing for congenital hypothyroidism with positive neonatal TSH screening.

T. Tajima, A. Nakamura, Takeshi Yamaguchi, 2020, The Journal of clinical endocrinology and metabolism.

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.

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.

Y. Hasegawa, T. Tajima, K. Nagasaki, 2011, Endocrine journal.

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.