Maki Fukami


Ontology type: schema:Person     


Person Info

NAME

Maki

SURNAME

Fukami

Publications in SciGraph latest 50 shown

  • 2022-09-12 Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome in HUMAN GENOME VARIATION
  • 2022-03-22 ACAN biallelic variants in a girl with severe idiopathic short stature 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
  • 2021-06-30 Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements in CLINICAL EPIGENETICS
  • 2021-06-09 Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification 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
  • 2021-01-27 Correction to: Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism in JOURNAL OF HUMAN GENETICS
  • 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
  • 2020-09-09 Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism in JOURNAL OF HUMAN GENETICS
  • 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
  • 2019-05-28 Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells in BMC MEDICAL GENOMICS
  • 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
  • 2019-01-21 (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty in HUMAN GENOME VARIATION
  • 2018-05-29 Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing in SCIENTIFIC REPORTS
  • 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
  • 2018-03-22 Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events in CHROMOTHRIPSIS
  • 2018-03-08 An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome in HUMAN GENOME VARIATION
  • 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
  • 2018-01-15 Effectiveness of Sodium-Glucose Cotransporter-2 Inhibitor as an Add-on Drug to GLP-1 Receptor Agonists for Glycemic Control of a Patient with Prader–Willi Syndrome: A Case Report in DIABETES THERAPY
  • 2018-01-09 A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism in JOURNAL OF 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
  • 2017-06-08 Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver–Russell syndrome in JOURNAL OF HUMAN GENETICS
  • 2017-05-31 Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients in GENETICS IN MEDICINE
  • 2017-05-18 The first Japanese case of central precocious puberty with a novel MKRN3 mutation in HUMAN GENOME VARIATION
  • 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
  • 2017-03-16 A novel C-terminal truncating NR5A1 mutation in dizygotic twins in HUMAN GENOME VARIATION
  • 2017-01-20 Increased incidence of post-term delivery and Cesarean section after frozen-thawed embryo transfer during a hormone replacement cycle in JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
  • 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
  • 2016-05-16 SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7 in NATURE 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
  • 2015-10-05 Parturition failure in mice lacking Mamld1 in SCIENTIFIC REPORTS
  • 2015-08-28 Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions in CLINICAL EPIGENETICS
  • 2015-07-02 Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp in HUMAN GENOME VARIATION
  • 2015-06-04 Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature in JOURNAL OF HUMAN GENETICS
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