Tsutomu Ogata


Ontology type: schema:Person     


Person Info

NAME

Tsutomu

SURNAME

Ogata

Publications in SciGraph latest 50 shown

  • 2022-07-22 Correction to: Growth references for Japanese individuals with Noonan syndrome in PEDIATRIC RESEARCH
  • 2022-05-24 Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system in JOURNAL OF HUMAN GENETICS
  • 2022-03-22 ACAN biallelic variants in a girl with severe idiopathic short stature in JOURNAL OF HUMAN GENETICS
  • 2022-03-16 Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences in CLINICAL EPIGENETICS
  • 2022-01-24 Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing in JOURNAL OF HUMAN GENETICS
  • 2022-01-09 Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata in JOURNAL OF HUMAN GENETICS
  • 2021-06-11 Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant in JOURNAL OF HUMAN GENETICS
  • 2021-05-26 ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance in CLINICAL EPIGENETICS
  • 2021-05-24 A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2 in JOURNAL OF HUMAN GENETICS
  • 2021-04-07 Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia in CLINICAL EPIGENETICS
  • 2021-02-27 Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome in JOURNAL OF HUMAN GENETICS
  • 2021-02-02 NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism in HUMAN GENOME VARIATION
  • 2020-10-22 Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome in CLINICAL EPIGENETICS
  • 2020-10-16 Kagami–Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3 in JOURNAL OF HUMAN GENETICS
  • 2020-10-15 Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development in SCIENTIFIC REPORTS
  • 2020-07-22 Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years in CLINICAL EPIGENETICS
  • 2020-07-03 Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency in SCIENTIFIC REPORTS
  • 2020-06-16 Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients in CLINICAL EPIGENETICS
  • 2020-01-24 Random X chromosome inactivation in patients with Klinefelter syndrome in MOLECULAR AND CELLULAR PEDIATRICS
  • 2019-10-23 De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions in JOURNAL OF HUMAN GENETICS
  • 2019-08-06 De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation in JOURNAL OF HUMAN GENETICS
  • 2019-07-22 Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2019-03-07 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 in CLINICAL EPIGENETICS
  • 2019-02-28 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 in CLINICAL EPIGENETICS
  • 2019-02-07 Association of four imprinting disorders and ART in CLINICAL EPIGENETICS
  • 2019-01-21 (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty in HUMAN GENOME VARIATION
  • 2019-01-17 Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures in JOURNAL OF HUMAN GENETICS
  • 2018-07-27 Congenital limb deficiency in Japan: a cross-sectional nationwide survey on its epidemiology in BMC MUSCULOSKELETAL DISORDERS
  • 2018-04-30 Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-04-17 Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations in JAPANESE JOURNAL OF OPHTHALMOLOGY
  • 2018-02-02 Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene in SCIENTIFIC REPORTS
  • 2018-01-10 De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism in HUMAN GENETICS
  • 2017-10-27 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 in ARCHIVES OF ENVIRONMENTAL CONTAMINATION AND TOXICOLOGY
  • 2017-08-26 X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 in NEUROGENETICS
  • 2017-05-31 Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients in GENETICS IN MEDICINE
  • 2017-05-15 Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects in CLINICAL EPIGENETICS
  • 2016-11-08 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 in BIOLOGY OF SEX DIFFERENCES
  • 2016-09-15 Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome in GENETICS IN MEDICINE
  • 2016-09-02 Diagnosis and management of Silver–Russell syndrome: first international consensus statement in NATURE REVIEWS ENDOCRINOLOGY
  • 2016-05-26 Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism in JOURNAL OF HUMAN GENETICS
  • 2016-04-28 Beckwith–Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? in JOURNAL OF HUMAN GENETICS
  • 2016-03-17 Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis in JOURNAL OF HUMAN GENETICS
  • 2016-02-11 Genotype–phenotype correlation of PAX6 gene mutations in aniridia in HUMAN GENOME VARIATION
  • 2015-12-29 Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations in HUMAN GENETICS
  • 2015-12-09 Growth references for Japanese individuals with Noonan syndrome in PEDIATRIC RESEARCH
  • 2015-11-13 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 in BMC PUBLIC HEALTH
  • 2015-10-28 Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-10-05 Parturition failure in mice lacking Mamld1 in SCIENTIFIC REPORTS
  • 2015-09-17 Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region in JOURNAL OF HUMAN GENETICS
  • 2015-08-28 Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions in CLINICAL EPIGENETICS
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