Akira Kinoshita

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Publications in SciGraph latest 50 shown

  • 2021-02-18 A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models in TRANSLATIONAL PSYCHIATRY
  • 2020-06-22 Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report in BMC ENDOCRINE DISORDERS
  • 2019-02-22 Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome in JOURNAL OF HUMAN GENETICS
  • 2019-01-31 Identification of a novel CCDC22 mutation in a patient with severe Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2018-02-07 Clonal dynamics in a case of acute monoblastic leukemia that later developed myeloproliferative neoplasm in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2018-02-02 Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder in TRANSLATIONAL PSYCHIATRY
  • 2017-12-26 Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing in JOURNAL OF HUMAN GENETICS
  • 2017-11-09 Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism in HUMAN GENOME VARIATION
  • 2017-07-27 Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease in HUMAN GENOME VARIATION
  • 2017-01-12 Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • 2016-10-22 Rapid growth of mitotically active cellular fibroma of the ovary: a case report and review of the literature in DIAGNOSTIC PATHOLOGY
  • 2016-06-02 Expression of Somatostatin Receptor Type 2A and PTEN in Neuroendocrine Neoplasms Is Associated with Tumor Grade but Not with Site of Origin in ENDOCRINE PATHOLOGY
  • 2016-03-09 Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • 2015-09-28 A case of neonatal-onset autoinflammatory syndrome with a de novo PSMB9 mutation resembling Nakajo-Nishimura syndrome in PEDIATRIC RHEUMATOLOGY
  • 2015-07-16 Germline mutations causing familial lung cancer in JOURNAL OF HUMAN GENETICS
  • 2014-02-13 Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US in JOURNAL OF HUMAN GENETICS
  • 2013-11-08 P02-009 - Candle syndrome: expanding spectrum in PEDIATRIC RHEUMATOLOGY
  • 2013-03-07 Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer in JOURNAL OF HUMAN GENETICS
  • 2012-06-25 Erratum: Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions in JOURNAL OF HUMAN GENETICS
  • 2012-04-01 Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair in NATURE GENETICS
  • 2012-03-08 Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions in JOURNAL OF HUMAN GENETICS
  • 2011-02-10 Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders in JOURNAL OF HUMAN GENETICS
  • 2011-02-10 Epidemiology of human papillomavirus genotypes in pregnant Japanese women in JOURNAL OF HUMAN GENETICS
  • 2010-01-29 Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco–Sjögren syndrome in JOURNAL OF HUMAN GENETICS
  • 2010-01-15 A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12 in JOURNAL OF HUMAN GENETICS
  • 2009-04-03 Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome in JOURNAL OF HUMAN GENETICS
  • 2007-06-26 A Japanese patient with a mild Lenz–Majewski syndrome in JOURNAL OF HUMAN GENETICS
  • 2006-10-15 Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6) in NATURE GENETICS
  • 2006-01-29 A SNP in the ABCC11 gene is the determinant of human earwax type in NATURE GENETICS
  • 2005-10-25 PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses in JOURNAL OF HUMAN GENETICS
  • 2004-07-04 Heterozygous TGFBR2 mutations in Marfan syndrome in NATURE GENETICS
  • 2004-06-18 The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus in JOURNAL OF HUMAN GENETICS
  • 2002-09 A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway in JOURNAL OF HUMAN GENETICS
  • 2002-03-18 Haploinsufficiency of NSD1 causes Sotos syndrome in NATURE GENETICS
  • 2000-09 Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease in NATURE GENETICS
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