Satoshi Narumi

发表

An association with hypopituitarism and 9q subtelomere deletion syndrome

H. Yoshihashi, T. Hasegawa, S. Higuchi, 2018, Clinical Case Reports.

A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report

S. Shibata, Satoshi Narumi, K. Kamei, 2020, BMC Nephrology.

Efficacy of denosumab therapy for osteoporosis-pseudoglioma syndrome with osteoporosis: a case report

H. Kato, Yukio Nakamura, H. Kawame, 2018, Modern Rheumatology Case Reports.

A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation

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

A Novel Mutation in SOX2 Causes Hypogonadotropic Hypogonadism with Mild Ocular Malformation

Y. Hasegawa, K. Muroya, T. Hasegawa, 2014, Hormone Research in Paediatrics.

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.

Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome

A. Ishiguro, S. Kure, Satoshi Narumi, 2017, Cytogenetic and Genome Research.

A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification

K. Fujita, N. Aida, K. Muroya, 2010, American journal of medical genetics. Part A.

A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5

T. Urakami, S. Sugihara, T. Kikuchi, 2021, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.

M. Yasui, Y. Abe, K. Muroya, 2009, The Journal of clinical endocrinology and metabolism.

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.

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.

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.

Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2

K. Abe, T. Hasegawa, Satoshi Narumi, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Pseudodominant inheritance in a family with nonautoimmune hypothyroidism due to biallelic DUOX2 mutations

K. Abe, T. Hasegawa, T. Hamajima, 2015, Clinical endocrinology.

Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.

K. Muroya, T. Hasegawa, Satoshi Narumi, 2011, The Journal of clinical endocrinology and metabolism.

Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7

Motohiro Kato, M. Takagi, S. Ito, 2020, British journal of haematology.

Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX

R. Fukuzawa, T. Hasegawa, M. Takagi, 2017, Human Genome Variation.

A Novel Mutation of Androgen Receptor Gene in Complete Androgen Insensitivity Syndrome

T. Hasegawa, Satoshi Narumi, T. Ishii, 2007, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric 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.

Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.

M. Taniyama, T. Hasegawa, Satoshi Narumi, 2022, Endocrine journal.

The Patterning and Proportion of Charged Residues in the Arginine-Rich Mixed-Charge Domain Determine the Membrane-Less Organelle Targeted by the Protein

Koji Ueda, H. Uji‐i, Y. Hayamizu, 2022, International journal of molecular sciences.

MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene

Y. Etani, S. Ida, M. Kawai, 2020, Human Genome Variation.

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Y. Okuno, T. Yonekawa, S. Kojima, 2022, Scientific Reports.

SOX9 is colocalized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins

S. Takada, Y. Hasegawa, R. Nishimura, 2020, Molecular Reproduction and Development.

Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation

G. Webersinke, O. Haas, D. Ilencikova, 2019, Pediatric blood & cancer.

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.

A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.

R. Fukuzawa, T. Hasegawa, H. Kamasaki, 2017, Endocrine journal.

Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome

K. Ihara, T. Hasegawa, M. Toujigamori, 2017, Hormone Research in Paediatrics.

Novel Insights from Clinical Practice

K. Ihara, T. Hasegawa, M. Toujigamori, 2017 .

Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.

K. Muroya, T. Hasegawa, Satoshi Narumi, 2012, European journal of endocrinology.

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

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

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

W. Ji, L. Bird, M. Konstantino, 2018, American journal of medical genetics. Part A.

Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype.

G. Wertheim, T. Olson, S. Meshinchi, 2018, Blood advances.

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.

SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome

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

Correspondence between computed tomography and endoscopy in Menetrier’s disease

T. Omori, K. Mitamura, Satoshi Narumi, 2008, Pediatrics international : official journal of the Japan Pediatric Society.

Identification of the first promoter‐specific gain‐of‐function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development

S. Takada, Y. Ogawa, R. Sekido, 2021, American journal of medical genetics. Part A.

Genetic defects in pediatric-onset adrenal insufficiency in Japan.

T. Hasegawa, M. Takagi, Satoshi Narumi, 2017, European journal of endocrinology.

Complete androgen insensitivity syndrome with accelerated onset of puberty due to a Sertoli cell tumor

T. Hasegawa, T. Hamajima, Makiko Yoshida, 2021, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.

H. Arakawa, T. Hasegawa, M. Takagi, 2016, Endocrine journal.

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency

Yukichi Tanaka, R. Fukuzawa, T. Hasegawa, 2018, PloS one.

Rare monogenic causes of primary adrenal insufficiency

Satoshi Narumi, S. Narumi, 2018, Current opinion in endocrinology, diabetes, and obesity.

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

H. Okano, K. Ihara, T. Hara, 2016, Nature Genetics.

Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.

Mie Nakazawa, T. Hasegawa, K. Nagasaki, 2014, The Journal of clinical endocrinology and metabolism.

Radiological evolution in IMAGe association: A case report

G. Nishimura, T. Hasegawa, Satoshi Narumi, 2008, American journal of medical genetics. Part A.

TSH resistance revisited.

T. Hasegawa, Satoshi Narumi, S. Narumi, 2015, Endocrine journal.

Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes.

F. Solé, T. LaFramboise, S. Ogawa, 2018, Blood.

Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations

T. Hasegawa, Satoshi Narumi, I. Miyata, 2018, Hormone Research in Paediatrics.

Novel Techniques in Paediatric Endocrinology

T. Hasegawa, Satoshi Narumi, I. Miyata, 2018 .

Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review.

M. Yamada, T. Satoh, N. Matsuura, 2019, The Journal of clinical endocrinology and metabolism.

Systematic alanine scanning of PAX8 paired domain reveals functional importance of the N-subdomain.

Satoshi Narumi, Megumi Iwahashi, S. Narumi, 2019, Journal of molecular endocrinology.

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.

A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux

G. Nishimura, H. Kitoh, T. Hasegawa, 2020, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Various types of LRP5 mutations in four patients with osteoporosis‐pseudoglioma syndrome: Identification of a 7.2‐kb microdeletion using oligonucleotide tiling microarray

M. Emi, T. Shiihara, T. Matsuishi, 2010, American journal of medical genetics. Part A.

Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.

K. Muroya, T. Hasegawa, Satoshi Narumi, 2010, The Journal of clinical endocrinology and metabolism.

A family of pseudohypoparathyroidism type Ia with an 850‐kb submicroscopic deletion encompassing the whole GNAS locus

T. Hasegawa, K. Nagasaki, M. Takagi, 2012, American journal of medical genetics. Part A.

Clinical Report Radiological Evolution in IMAGe Association: A Case Report

G. Nishimura, T. Hasegawa, Satoshi Narumi, 2008 .

Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess

T. Hasegawa, H. Tamai, Satoshi Narumi, 2013, American journal of medical genetics. Part A.

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.

Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis; SAMD9/SAMD9L Germline Mutation.

T. Morio, K. Imai, I. Morioka, 2022, Journal of pediatric hematology/oncology.

Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant

M. Kawai, Satoshi Narumi, Kazuko Wada, 2021, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report

Y. Hasegawa, Satoshi Narumi, R. Hachiya, 2019, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association

T. Ferkol, M. Bessler, S. Shenoy, 2018, Pediatric blood & cancer.

A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8

Satoshi Narumi, Miyuki Kitamura, Megumi Iwahashi-Odano, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency

Mitsuhiro Kato, G. Nishimura, R. Fukuzawa, 2017, American journal of medical genetics. Part A.

Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing

Tomohiro Ishii, Tomonobu Hasegawa, Yusuke Tanahashi, 2013, PloS one.

Novel biallelic mutations in the DUOX2 gene underlying very early-onset inflammatory bowel disease: A case report.

K. Hata, T. Yoshioka, Satoshi Narumi, 2022, Clinical immunology.

Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.

Keisuke Nagasaki, Tomohiro Ishii, Tomonobu Hasegawa, 2011, The Journal of clinical endocrinology and metabolism.

Methylome analysis of thyroid ectopy shows no disease-specific DNA methylation signature

T. Hasegawa, Satoshi Narumi, T. Ishii, 2018, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

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

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

A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome

H. Yoshihashi, Y. Hasegawa, T. Hasegawa, 2015, American journal of medical genetics. Part A.

Phase separation and toxicity of C9orf72 poly(PR) depends on alternate distribution of arginine

M. Sugimoto, Y. Hayamizu, K. Ueda, 2021, The Journal of cell biology.

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.

G. Nishimura, H. Yoshihashi, T. Hasegawa, 2017, European journal of medical genetics.

Stippled calcification in an infant with a recurrent SRCAP gene mutation

G. Nishimura, Y. Hasegawa, T. Hasegawa, 2016, American journal of medical genetics. Part A.

Mutation of a gene for thyroid transcription factor-1 (TITF1) in a patient with clinical features of resistance to thyrotropin.

M. Uchiyama, T. Hasegawa, T. Kikuchi, 2008, Endocrine journal.

Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism

Y. Hasegawa, K. Muroya, T. Hasegawa, 2012, PloS one.

Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation

H. Shimada, T. Kuroda, F. Yamazaki, 2017, Journal of pediatric hematology/oncology.

High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency

T. Hasegawa, Satoshi Narumi, T. Ishii, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity.

L. Fox, K. Kameyama, K. Abe, 2017, Endocrine journal.

A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation

K. Abe, K. Muroya, T. Hasegawa, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

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.

Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.

K. Muroya, T. Hasegawa, K. Nagasaki, 2020, The Journal of clinical endocrinology and metabolism.

Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.

K. Abe, T. Abe, K. Muroya, 2018, European journal of endocrinology.

Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene

T. Hasegawa, Satoshi Narumi, M. Satoh, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

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.

Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome

Kanako Mitsui-Sekinaka, S. Nonoyama, T. Hasegawa, 2021, Journal of Clinical Immunology.

Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells.

G. Iguchi, Yutaka Takahashi, W. Ogawa, 2019, The Journal of clinical investigation.

Growth Failure in an Infant with Congenital Nephrogenic Diabetes Insipidus During Sodium Restriction

T. Hasegawa, Satoshi Narumi, T. Ishii, 2007, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.