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List of works by Tsutomu Ogata

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

article

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

scientific article

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

scientific article published on 14 July 2018

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

scientific article published on 30 January 2012

47,XXX male: A clinical and molecular study.

scientific article

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

scientific article

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

scientific article published on 01 July 2004

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

scientific article

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

scientific article published in January 2013

A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome.

scientific article

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

scientific article published on 29 June 2016

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

scientific article published on 17 February 2018

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

scientific article published on 11 January 2018

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

scientific article published on 17 January 2020

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

scientific article published on 20 July 2000

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

scientific article (publication date: 2014)

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

scientific article published on 4 December 2013

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

scientific article published on 9 March 2013

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

scientific article published on 16 April 2010

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

scientific article (publication date: March 2002)

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

scientific article published in April 2013

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

scientific article published on 01 July 2000

Absence of Y-chromosome microdeletions in patients with isolated hypospadias

scientific article published on 01 August 2000

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

scientific article published in June 2005

Androgen receptor gene and male genital anomaly.

scientific article

Anti-nuclear antibodies in patients with premature ovarian failure

scientific article published on 01 January 1999

Aromatase excess syndrome in a family with upstream deletion of CYP19A1

scientific article published on 18 October 2013

Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia

scientific article

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

scientific article

Aromatase excess syndromeas a model for genomic disorder: identification of molecular bases and phenotypic determinants

scientific article published on 3 October 2013

Association of common LH variant with hyperfunctional promoter in a Japanese infertile woman

scientific article published on 01 December 2005

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

scientific article

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

scientific article

Association of primary ovarian insufficiency with a specific human leukocyte antigen haplotype (A*24:02-C*03:03-B*35:01) in Japanese women

scientific article published on 28 July 2011

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

scientific article published in August 2005

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

scientific article published on November 19, 2012

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

scientific article published on 28 April 2016

Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion

scientific article published on 06 May 2013

Blood allopregnanolone levels in women with polycystic ovary syndrome.

scientific article published on 8 April 2016

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

scientific article

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

scientific article

CAG repeat length of the androgen receptor gene in Japanese males with cryptorchidism

scientific article published on 01 November 2000

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

scientific article

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

scientific article published on January 2002

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

scientific article

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

scientific article published on 20 July 2016

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

scientific article published on 28 April 2016

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

scientific article published on 07 August 2014

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.

scientific article published in March 2004

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

scientific article published on 17 April 2018

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

scientific article published on 06 April 2020

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

scientific article published on 29 February 2016

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

scientific article published on 2 June 2016

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

scientific article published on 19 January 2017

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

scientific article published on 23 April 2012

Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation

scientific article (publication date: 27 July 2001)

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

scientific article published on 05 December 2013

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

scientific article

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

scientific article published on 22 July 2019

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

scientific article

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

article

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

scientific article published on 9 June 2017

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

scientific article published on 27 July 2018

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

scientific article published on 30 March 2016

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

scientific article published on 8 January 2015

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

scientific article published on 01 July 2004

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

scientific article published on 3 October 2013

Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.

scientific article

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

scientific article

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

scientific article published on 06 August 2019

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

scientific article

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

scientific article published on 23 October 2019

De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency.

scientific article published on 20 November 2013

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

scientific article published on 10 January 2018

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

scientific article published on 01 March 2000

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

scientific article

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

scientific article

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

scientific article published on 13 November 2015

Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation.

scientific article published in December 2009

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

scientific article

Diaphyseal medullary stenosis with malignant fibrous histiocytoma: further evidence for loss of heterozygosity involving 9p21-22 in tumor tissue

scientific article published on 01 March 2002

Disorder of sex development in an infant with molecularly confirmed 46,XY, +der(10)t(10;21)(q21.1;q21.3), -21

scientific article published on 17 January 2014

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

scientific article published in August 2014

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.

scientific article published on 11 July 2017

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

scientific article published on 2 July 2015

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

scientific article published on 14 May 2008

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

scientific article published on 5 November 2014

Estrogen receptor alpha gene polymorphism is associated with idiopathic azoospermia

scientific article published on 01 December 2002

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

scientific article

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

scientific article

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

scientific article published on 13 January 2017

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

scientific article published on 21 November 2017

FISH analysis for apparently simple terminal deletions of the X chromosome: Identification of hidden structural abnormalities ⬇️

scientific article published on December 15, 2001

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

scientific article (publication date: August 1997)

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

scientific article published on 01 May 2006

Female carriers of Xp22.3 deletion including MRX locus

scientific article published on 01 June 1999

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

scientific article published on July 1, 1998

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

scientific article published on November 1, 2001

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

scientific article published on September 2001

Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9.

scientific article

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

scientific article

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

scientific article published on 30 April 2018

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

scientific article published in June 2001

GATA3 abnormalities in six patients with HDR syndrome.

scientific article published on 13 January 2011

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

scientific article published in November 2018

Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.

scientific article

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

scientific article published on December 2000

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

scientific article

Genetics of human growth

scientific article published on 29 April 2006

Genitourinary phenotype in XX patients with distal 9p monosomy.

scientific article published on June 2004

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

scientific article published on 23 July 2014

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

scientific article

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

scientific article

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

scientific article

Genotype and phenotype of Vietnamese patients with androgen insensitivity syndrome.

scientific article published on 3 October 2013

Genotype-phenotype correlation of PAX6 gene mutations in aniridia

scientific article published on 11 February 2016

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

scientific article published on 08 April 2019

Giant seminoma in a patient with 5 alpha-reductase type 2 deficiency

scientific article published on 01 March 2003

Glucose-6-phosphate dehydrogenase deficiency and adrenal hemorrhage in a filipino neonate with hyperbilirubinemia.

scientific article

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

scientific article published on 28 April 2016

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

scientific article published on 01 May 1999

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

scientific article published on 21 April 2005

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

scientific article published on 01 June 2001

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

scientific article published on 03 April 2015

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

scientific article published on 14 May 2012

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

scientific article published on 01 August 2006

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

scientific article published on 01 August 2002

Growth references for Japanese individuals with Noonan syndrome.

scientific article published on 9 December 2015

HDR syndrome (GATA3 haploinsufficiency syndrome)

scientific article published in June 2006

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

scientific article published on November 29, 2011

Haplotype analysis of ESR2 in Japanese patients with spermatogenic failure.

scientific article published on 24 May 2012

Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

scientific article published in June 2008

Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype.

scientific article published in January 2010

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype

scientific article published on 04 December 2009

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

scientific article

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

scientific article published on 06 May 2013

Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome

scientific article published on 01 September 1998

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

scientific article published on 2 October 2014

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

scientific article published in February 2007

Hypophosphatemia, non X-linked, X-linked

scientific article published on 01 January 2001

Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis.

scientific article

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

scientific article published on 28 December 2013

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

scientific journal article

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

scientific article

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

scientific article published on 17 November 2010

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

scientific article published on 30 September 2013

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

scientific article published on 01 January 2012

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

scientific article published on January 14, 2011

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

scientific article published on 2 July 2016

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

scientific article published on 01 March 1999

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

scientific article

Identification of novel low-dose bisphenol a targets in human foreskin fibroblast cells derived from hypospadias patients

scientific article

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

scientific article

Identification ofINSandKCNJ11gene mutations in type 1B diabetes in Japanese children with onset of diabetes before 5 yr of age ⬇️

scientific article published on September 10, 2012

Imaging of congenital lipoid adrenal hyperplasia.

scientific article published in April 2006

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

scientific article

Impaired urinary water excretion in a three-generation family

scientific article published on 01 October 2001

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

scientific article published on 7 December 2016

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

scientific article published on 11 December 2017

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

scientific article

KRAS Analysis in 34 Noonan Syndrome Patients without PTPN11 Mutation

scientific article

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

scientific article published on 16 October 2020

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

scientific article

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

scientific article published on 7 September 2006

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

scientific article published on 17 January 2006

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

scientific article published on April 30, 2013

Long-term clinical course in three patients with MAMLD1 mutations.

scientific article published on 6 July 2016

Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.

scientific article

Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1

scientific article published on 27 March 2020

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

scientific article

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

scientific article published on 28 December 2017

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

scientific article published on 23 June 2020

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

scientific article published on 29 July 2015

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

scientific article published in June 2003

MAMLD1 (CXorf6) is a New Gene for Hypospadias

scientific article

MAMLD1 and 46,XY disorders of sex development.

scientific article published on 08 October 2012

MLL2 and KDM6A mutations in patients with Kabuki syndrome

scientific article published on 02 August 2013

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

scientific article published on 10 October 2007

Mamld1 Deficiency Significantly Reduces mRNA Expression Levels of Multiple Genes Expressed in Mouse Fetal Leydig Cells but Permits Normal Genital and Reproductive Development ⬇️

scientific article published on October 18, 2012

Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells

scientific article

Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.

scientific article

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

scientific article published on 01 October 2009

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

scientific article published on 01 June 2018

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

scientific article published on 02 June 2011

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

scientific article published on 18 May 2011

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

scientific article published on 01 August 2005

Microhomology-mediated microduplication in the y chromosomal azoospermia factor a region in a male with mild asthenozoospermia

scientific article published on 01 January 2014

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

scientific article published in August 2005

Molecular Analysis of 9p Deletions Associated with XY Sex Reversal: Refining the Localization of a Sex-Determining Gene to the Tip of the Chromosome ⬇️

scientific article published on September 1, 1998

Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome ⬇️

scientific article published on January 26, 2012

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

scientific article published on 21 September 2018

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.

scientific article published on 8 July 2008

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

scientific article

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

scientific article published on 20 January 2015

Molecular mechanisms leading to the phenotypic development in paternal and maternal uniparental disomy for chromosome 14.

scientific article

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

scientific article published on 16 August 2008

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

scientific article

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

scientific article published on 13 January 2012

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

scientific article

Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia

scientific article published on 01 December 2009

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.

scientific article

Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism

scientific article published on 06 October 2006

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

scientific article (publication date: November 2002)

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

scientific article published in August 2001

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

scientific article

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

scientific article published on 8 May 2014

NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty

scientific article published on 21 September 2016

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

scientific article

Nomenclature for alleles of the cytochrome P450 oxidoreductase gene

scientific article published on July 2009

Nomenclature of primary amenorrhea: A proposal document of the Japan Society of Obstetrics and Gynecology committee for the redefinition of primary amenorrhea.

scientific article

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

scientific article published on 01 September 1998

Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias

scientific article published on 31 March 2015

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

scientific article

Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

scientific article

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

scientific article published on 15 July 2008

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) ⬇️

scientific article published on November 1, 1997

P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome

scientific article published on 01 January 1997

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

scientific article

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

scientific article

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

scientific article published on 24 March 2017

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

scientific article

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

scientific article published on 07 April 2021

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

scientific article

Parturition failure in mice lacking Mamld1.

scientific article

Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.

scientific article

Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review

scientific article published on 24 January 2018

Placental hypoplasia in maternal uniparental disomy for chromosome 7

scientific article published on 01 February 2008

Placentomegaly in paternal uniparental disomy for human chromosome 14

scientific article published on 11 July 2008

Polymorphisms of MAMLD1 gene in hypospadias

article

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

scientific article

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

scientific article published in April 2004

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

scientific article published on 20 November 2013

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

scientific article published on 28 October 2015

Progress in analysing disorders of sexual development. Preface

scientific article published on 01 January 2008

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

scientific article published on 16 December 2017

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

scientific article

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

scientific article

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

scientific article (publication date: 10 January 2014)

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

scientific article

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

scientific article published on 3 November 2015

SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature

scientific article

SHOX defects in idiopathic short stature

scientific article published on 01 December 2002

SHOX haploinsufficiency and overdosage: impact of gonadal function status.

scientific article

SOX10 mutation in Waardenburg syndrome type II

scientific article published on 01 August 2008

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

scientific article published on 17 March 2015

STX2 is a causative gene for nonobstructive azoospermia.

scientific article published on 23 March 2018

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

scientific article published on 01 October 2001

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

scientific article published on 01 October 2005

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

scientific article published on November 1, 1997

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

scientific article

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

scientific article published on 6 May 2016

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

scientific article published on 27 November 2014

Skeletal Deformity Associated with SHOX Deficiency

scientific article

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

scientific article published on 01 December 1999

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

scientific article published in April 2003

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

scientific article published on 29 December 2015

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

scientific article published on 10 February 2016

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

scientific article published on 01 June 2000

Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.

scientific article published on 9 May 2013

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

scientific article

Target height and target range for Japanese children: revisited

scientific article

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

scientific article published on 22 June 2017

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

scientific article

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

scientific article

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

scientific article published on 01 January 1997

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

scientific article published on 01 November 2000

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

scientific article

The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice

scientific article

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

scientific article published in January 2002

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

scientific article published in January 2006

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

scientific article published on 01 November 2001

Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome

scientific article published on 01 November 2004

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

scientific article published on 24 November 2017

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

scientific article published in June 2001

Uniparental disomy and human disease: an overview.

scientific article published on August 2010

Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: implication for a rare etiology of an autosomal recessive disorder.

scientific article

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

scientific article published on 11 April 2006

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

scientific article published on 29 June 2016

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

scientific article published on 26 August 2017

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

scientific article published on 01 September 2000

[(Epi) genetic mechanisms leading to imprinting disorder]

scientific article published on 01 March 2015

[Active ring X chromosome]

scientific article published on 01 January 2001

[Gonadal dysgenesis in Turner syndrome]

scientific article published on 01 February 2004

[Gonadal dysgenesis, XX type & XY type]

scientific article published on 01 January 2001

[Hypogonadotropic hypogonadism]

scientific article published on 01 January 2001

[Hypoparathyroidism, familial]

scientific article published on 01 January 2001

[Hypophosphatasia]

scientific article published on 01 January 2001

[Hypospadias]

scientific article published on 01 January 2001

[Kallmann syndrome]

scientific article published on 01 June 2006

[Laurence-Moon syndrome]

scientific article published on 01 January 2001

[Leri-Weill syndrome]

scientific article published on 01 September 2006

[Noonan syndrome]

scientific article published on 01 June 2006

[SHOX haploinsufficiency]

scientific article published on 01 May 2006

[Silver-Russell syndrome]

scientific article published on 01 May 2006

[Turner syndrome]

scientific article published on 01 January 2001

[XX male]

scientific article published on 01 June 2006

variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development

scientific article published on 11 October 2018

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