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ミトコンドリア関連核遺伝子の新規変異による複合遺伝性末梢神経障害

ミトコンドリア関連核遺伝子の新規変異による複合遺伝性末梢神経障害
Digital博士論文障害者向け資料あり
平松, 有Springer2022-07-19
National Diet Library
  • Subject HeadingPeripheral neuropathy Whole-exome sequencing Nuclear genes Mitochondrial d...
  • Note (General)...erformed whole-exome sequencing on 247 patients with autosoma...

チアノーゼ性先天性心疾患に伴う褐色細胞腫及びパラガングリオーマの遺伝学的解析

チアノーゼ性先天性心疾患に伴う褐色細胞腫及びパラガングリオーマの遺伝学的解析
Digital博士論文障害者向け資料あり
小笠原, 辰樹Kyoto University2023-01-23
Available onlineNational Diet LibraryOther Libraries in Japan
  • Subject Heading... disease whole exome sequencing clonal selection HIF2α

Expansion of gastric intestinal metaplasia with copy number aberrations contributes to field cancerization

Expansion of gastric intestinal metaplasia with copy number aberrations contributes to field cancerization
Digital博士論文障害者向け資料あり
Kumagai, Ken2022-07-25
Available onlineNational Diet LibraryOther Libraries in Japan
  • Subject Headinggastric cancer atrophic gastritis Helicobacter pylori single gland isolation whole-exome sequencing

A Mutation in PDGFRB in a Family with Infantile Myofibromatosis 63 1

A Mutation in PDGFRB in a Family with Infantile Myofibromatosis 63 1
Digital博士論文障害者向け資料あり
伊藤, 暢宏長崎大学医学部2019-12-04Acta medica Nagasakiensia
National Diet Library
  • Subject Headingautosomal dominant inheritance infantile myofibromatosis PDGFRB whole exome sequencing

Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3

Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3
Digital博士論文障害者向け資料あり
Jambaljav, Byambatseren2018-05-23
Available onlineNational Diet LibraryOther Libraries in Japan
  • Subject HeadingWhole-exome sequencing Diabetes mellitus ADAMTSL3

Indolent feature of Helicobacter pylori-uninfected intramucosal signet ring cell carcinomas with CDH1 mutations

Indolent feature of Helicobacter pylori-uninfected intramucosal signet ring cell carcinomas with CDH1 mutations
Digital博士論文障害者向け資料あり
Nikaido, Mitsuhiro2021-09-24
Available onlineNational Diet LibraryOther Libraries in Japan
  • Subject Headinggastric cancer signet ring cell carcinoma Helicobacter pylori CDH1 whole-exome sequencing

PRIMPOL変異と複数の遺伝子バリアントが表現型に関与すると考えられた慢性進行性外眼筋麻痺症候を呈した家系 157

PRIMPOL変異と複数の遺伝子バリアントが表現型に関与すると考えられた慢性進行性外眼筋麻痺症候を呈した家系 157
Digital博士論文障害者向け資料あり
笠毛, 渓Elsevier2020Neuroscience Research
National Diet Library
  • Subject Heading...eletions Whole-exome sequencing PRIMPOL
  • Note (General)...lyzed by whole-exome sequencing. In addition to possible path...

Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome 42 29

Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome 42 29
Digital博士論文障害者向け資料あり
木本, 浩貴Oxford University Press2021-12-01European Heart Journal
National Diet Library
  • Subject Heading...ificance Whole-exome sequencing Patch-clamp

Comprehensive Molecular Diagnosis of a Large Cohort of Japanese Retinitis Pigmentosa and Usher Syndrome Patients by Next-Generation Sequencing

Comprehensive Molecular Diagnosis of a Large Cohort of Japanese Retinitis Pigmentosa and Usher Syndrome Patients by Next-Generation Sequencing
Digital博士論文障害者向け資料あり
Oishi, Maho2018-01-23
Available onlineNational Diet LibraryOther Libraries in Japan
  • Subject Headingretinitis pigmentosa Usher syndrome next generation sequencing exome sequencing Japanese

Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma

Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma
Digital博士論文障害者向け資料あり
Takeuchi, Yasuhide2020-03-23
Available onlineNational Diet LibraryOther Libraries in Japan

Leptin Receptor Somatic Mutations are Frequent in HCV-Infected Cirrhotic Liver and Associate with Hepatocellular Carcinoma

Leptin Receptor Somatic Mutations are Frequent in HCV-Infected Cirrhotic Liver and Associate with Hepatocellular Carcinoma
Digital博士論文障害者向け資料あり
Ikeda, Atsuyuki2014-03-24
Available onlineNational Diet LibraryOther Libraries in Japan
  • Subject Headingliver cancer whole exome sequencing STAT3 genetics

身体小奇形、知的障害と統合失調症を呈する日本人家系におけるポジショナルクローニング法と包括的変異解析による新規KDM2B遺伝子変異の同定

身体小奇形、知的障害と統合失調症を呈する日本人家系におけるポジショナルクローニング法と包括的変異解析による新規KDM2B遺伝子変異の同定
Digital博士論文障害者向け資料あり
横塚, 紗永子nature2021-03-17
National Diet Library
  • Subject Heading...analysis Whole-exome sequencing Histone H3 lysine 4 demethyla...
  • Note (General)...rray and whole-exome sequencing, which reveale......he family. The exome sequencing revealed that within the codi...

Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome 86 3

Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome 86 3
Digital博士論文障害者向け資料あり
Matsudate, Yoshihiro, Naruto, Takuya, Hayashi, Yumiko, Minami, Mitsuyoshi, Tohyama, Mikiko, Yokota, Kenji, Yamada, Daisuke, Imoto, Issei, Kubo, YoshiakiElsevier2017-03-11Journal of Dermatological Science
National Diet Library
  • Subject Heading...drome targeted exome sequencing chromosomal microarray PTCH1 ...
  • Note (General)...ormed targeted exome sequencing (TES) analysis using a multi-...

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels
Digital博士論文障害者向け資料あり
Endo, Yukari2015-03-23
Available onlineNational Diet LibraryOther Libraries in Japan
  • Subject HeadingTubular aggregate myopathy Store-operated Ca2+ entry Whole exome sequencing

細胆管細胞癌の遺伝的、臨床病理学的特徴の統合的解析: 細胆管細胞癌はミスマッチ修復機能欠損を特徴とする

細胆管細胞癌の遺伝的、臨床病理学的特徴の統合的解析: 細胆管細胞癌はミスマッチ修復機能欠損を特徴とする
Digital博士論文
牧野, 健太Kyoto University2024-05-23
Available onlineOther Libraries in Japan
  • Subject Heading...ficiency Whole-exome sequencing Genetic landscape

A Mutation in PDGFRB in a Family with Infantile Myofibromatosis

A Mutation in PDGFRB in a Family with Infantile Myofibromatosis
Digital博士論文
伊藤, 暢宏長崎大学医学部2019-12-04Acta medica Nagasakiensia63 1p.49-53
Available onlineOther Libraries in Japan
  • Summary, etc....lysis and wholeexome sequencing were performed......amily by whole-exome sequencing supported by a genome-wide li...
  • Subject Headingautosomal dominant inheritance infantile myofibromatosis PDGFRB whole exome sequencing

PRIMPOL変異と複数の遺伝子バリアントが表現型に関与すると考えられた慢性進行性外眼筋麻痺症候を呈した家系

PRIMPOL変異と複数の遺伝子バリアントが表現型に関与すると考えられた慢性進行性外眼筋麻痺症候を呈した家系
Digital博士論文
笠毛, 渓Elsevier2020Neuroscience Research157p.58-63
Available onlineOther Libraries in Japan
  • Subject Heading...eletions Whole-exome sequencing PRIMPOL
  • Note (General)...lyzed by whole-exome sequencing. In addition to possible path...

Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome

Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome
Digital博士論文
木本, 浩貴Oxford University Press2021-12-01European Heart Journal42 29p.2854-2863
Available onlineOther Libraries in Japan
  • Summary, etc....es using whole-exome sequencing data on another independent S...
  • Subject Heading...ificance Whole-exome sequencing Patch-clamp

Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome

Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome
Digital博士論文
松立, 吉弘, 成戸, 卓也, ハヤシ, ユミコ, ミナミ, ミツヨシ, トオヤマ, ミキコ, ヨコタ, ケンジ, ヤマダ, ダイスケ, 井本, 逸勢, 久保, 宜明Elsevier2017-03-11Journal of Dermatological Science86 3p.206-211
Available onlineOther Libraries in Japan
  • Summary, etc....ormed targeted exome sequencing (TES) analysis using a multi-...
  • Subject Heading...drome targeted exome sequencing chromosomal microarray PTCH1 ...

ミトコンドリア関連核遺伝子の新規変異による複合遺伝性末梢神経障害

ミトコンドリア関連核遺伝子の新規変異による複合遺伝性末梢神経障害
Digital博士論文
平松, 有Springer
Available onlineOther Libraries in Japan
  • Subject HeadingPeripheral neuropathy Whole-exome sequencing Nuclear genes Mitochondrial d...
  • Note (General)...erformed whole-exome sequencing on 247 patients with autosoma...
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