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Identification of Mendelian disease-causing genes by RNA sequencing

Research Project

Project/Area Number 17K19536
Research Category

Grant-in-Aid for Challenging Research (Exploratory)

Allocation TypeMulti-year Fund
Research Field Biomedical structure and function and related fields
Research InstitutionSagami Women's University (2019)
Kanagawa Children's Medical Center (Clinical Research Institute) (2017-2018)

Principal Investigator

Tsurusaki Yoshinori  相模女子大学, 栄養科学部, 准教授 (70392040)

Project Period (FY) 2017-06-30 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
Fiscal Year 2017: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
KeywordsRNAシークエンス / スプライス異常 / 発現変動遺伝子 / スプライスサイト変異 / RNAシークエンス解析 / 疾患責任遺伝子
Outline of Final Research Achievements

RNA samples derived from three patients with splice site mutation and six patients of unknown causes were examined by RNA sequencing (RNA-seq). RNA-seq detected aberrant splicing in three patients. On the other hand, RNA-seq failed to identification disease-causing genes in six patients.

Academic Significance and Societal Importance of the Research Achievements

原因を特定することができない症例もあったが、発現変動遺伝子よりWESでは解析できなかった発現調節領域(プロモータ、UTRなど)の変異、スプライス異常の転写産物よりイントロンの変異を検出することによって、これまでとは異なった視点で疾患責任遺伝子の同定を行う本研究は大変意義があると考える。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (50 results)

All 2020 2019 2018 2017

All Journal Article (26 results) (of which Int'l Joint Research: 3 results,  Peer Reviewed: 26 results,  Open Access: 15 results,  Acknowledgement Compliant: 1 results) Presentation (24 results) (of which Int'l Joint Research: 11 results)

  • [Journal Article] Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 152020

    • Author(s)
      Murakami Hiroaki、Uehara Tomoko、Tsurusaki Yoshinori、Enomoto Yumi、Kuroda Yukiko、Aida Noriko、Kosaki Kenjiro、Kurosawa Kenji
    • Journal Title

      Brain and Development

      Volume: 42 Issue: 3 Pages: 289-292

    • DOI

      10.1016/j.braindev.2019.12.008

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome2020

    • Author(s)
      Takizaki Nao、Tsurusaki Yoshinori、Katsumata Kaoru、Enomoto Yumi、Murakami Hiroaki、Muroya Koji、Ishikawa Hiroshi、Aida Noriko、Nishimura Gen、Kurosawa Kenji
    • Journal Title

      Human Genome Variation

      Volume: 7 Issue: 1 Pages: 1-1

    • DOI

      10.1038/s41439-020-0090-6

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Novel <i>VRK1</i> Mutations in a Patient with Childhood-onset Motor Neuron Disease2019

    • Author(s)
      Yamaura Genpei、Higashiyama Yuichi、Kusama Kaori、Kunii Misako、Tanaka Kenichi、Koyano Shigeru、Nakashima Mitsuko、Tsurusaki Yoshinori、Miyake Noriko、Saitsu Hirotomo、Iwahashi Yukiko、Joki Hideto、Matsumoto Naomichi、Doi Hiroshi、Tanaka Fumiaki
    • Journal Title

      Internal Medicine

      Volume: 58 Issue: 18 Pages: 2715-2719

    • DOI

      10.2169/internalmedicine.2126-18

    • NAID

      130007706950

    • ISSN
      0918-2918, 1349-7235
    • Year and Date
      2019-09-15
    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon2019

    • Author(s)
      Kuroda Yukiko、Murakami Hiroaki、Yokoi Takayuki、Kumaki Tatsuro、Enomoto Yumi、Tsurusaki Yoshinori、Kurosawa Kenji
    • Journal Title

      Brain and Development

      Volume: 41 Issue: 6 Pages: 538-541

    • DOI

      10.1016/j.braindev.2019.02.007

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia2019

    • Author(s)
      Kuroda Yukiko、Murakami Hiroaki、Enomoto Yumi、Tsurusaki Yoshinori、Takahashi Kazumi、Mitsuzuka Kanako、Ishimoto Hitoshi、Nishimura Gen、Kurosawa Kenji
    • Journal Title

      Clinical Genetics

      Volume: 印刷中 Issue: 6 Pages: 713-717

    • DOI

      10.1111/cge.13530

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Discordant phenotype caused by CASK mutation in siblings with NF12019

    • Author(s)
      Murakami Hiroaki、Kimura Yuichi、Enomoto Yumi、Tsurusaki Yoshinori、Akahira-Azuma Moe、Kuroda Yukiko、Tsuji Megumi、Goto Tomohide、Kurosawa Kenji
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 20-20

    • DOI

      10.1038/s41439-019-0051-0

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β‐globin gene mutation causing dominantly inherited β‐thalassemia2019

    • Author(s)
      Sugiyama Masanaka、Hamanoue Satoshi、Nagai Jun‐ichi、Tsurusaki Yoshinori、Kurosawa Kenji、Tanaka Mio、Tanaka Yukichi、Goto Hiroaki
    • Journal Title

      Pediatric Blood & Cancer

      Volume: 66 Issue: 9

    • DOI

      10.1002/pbc.27871

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma2019

    • Author(s)
      Fujita Atsushi、Higashijima Takefumi、Shirozu Hiroshi、Masuda Hiroshi、Sonoda Masaki、Tohyama Jun、Kato Mitsuhiro、Nakashima Mitsuko、Tsurusaki Yoshinori、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyatake Satoko、Miyake Noriko、Fukuda Masafumi、Kameyama Shigeki、Saitsu Hirotomo、Matsumoto Naomichi
    • Journal Title

      Neurology

      Volume: 93 Issue: 3

    • DOI

      10.1212/wnl.0000000000007774

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED122019

    • Author(s)
      Murakami Hiroaki、Enomoto Yumi、Tsurusaki Yoshinori、Sugio Yoshitsugu、Kurosawa Kenji
    • Journal Title

      Congenital Anomalies

      Volume: - Issue: 3 Pages: 91-93

    • DOI

      10.1111/cga.12350

    • NAID

      210000156667

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC22019

    • Author(s)
      Ohashi Ikuko、Enomoto Yumi、Naruto Takuya、Tsurusaki Yoshinori、Kuroda Yukiko、Ishikawa Hiroshi、Ohyama Makiko、Aida Noriko、Nishimura Gen、Kurosawa Kenji
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 40-40

    • DOI

      10.1038/s41439-019-0071-9

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genetic abnormalities in a large cohort of Coffin?Siris syndrome patients2019

    • Author(s)
      Sekiguchi Futoshi et al., Matsumoto Naomichi
    • Journal Title

      Journal of Human Genetics

      Volume: 64 Issue: 12 Pages: 1173-1186

    • DOI

      10.1038/s10038-019-0667-4

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Whole‐exome sequencing reveals the subclonal expression of NUP214 ‐ ABL1 fusion gene in T‐cell acute lymphoblastic leukemia2019

    • Author(s)
      Tsurusaki Yoshinori、Nagai Jun‐ichi、Fujita Sachio、Sugiyama Masanaka、Nakamura Wataru、Hayashi Akiko、Miyagawa Naoyuki、Keino Dai、Yokosuka Tomoko、Iwasaki Fuminori、Hamanoue Satoshi、Shiomi Masae、Goto Shoko、Kurosawa Kenji、Goto Hiroaki
    • Journal Title

      Pediatric Blood & Cancer

      Volume: 67 Issue: 1

    • DOI

      10.1002/pbc.28019

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Novel USP9X variants in two patients with X-linked intellectual disability2019

    • Author(s)
      Tsurusaki Yoshinori、Kuroda Yukiko、Yamanouchi Yasuko、Kondo Eisuke、Ouchi Kazunobu、Kimura Yuichi、Enomoto Yumi、Aida Noriko、Masuno Mitsuo、Kurosawa Kenji
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 49-49

    • DOI

      10.1038/s41439-019-0081-7

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.2018

    • Author(s)
      Sato Y, Shibasaki J, Aida N, Hiiragi K, Kimura Y, Akahira-Azuma M, Enomoto Y, Tsurusaki Y, Kurosawa K.
    • Journal Title

      Human Genome Variation

      Volume: 5 Issue: 1 Pages: 4-4

    • DOI

      10.1038/s41439-018-0005-y

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.2018

    • Author(s)
      Hayashi S, Yokoi T, Hatano C, Enomoto Y, Tsurusaki Y, Naruto T, Kobayashi M, Ida H, Kurosawa K.
    • Journal Title

      Hum Genome Var.

      Volume: 5 Issue: 1 Pages: 11-11

    • DOI

      10.1038/s41439-018-0011-0

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy.2018

    • Author(s)
      Yokoi T, Enomoto Y, Tsurusaki Y, Naruto T, Kurosawa K.
    • Journal Title

      Hum Genome Var.

      Volume: 5 Issue: 1 Pages: 20-20

    • DOI

      10.1038/s41439-018-0019-5

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.2018

    • Author(s)
      Kimura Y, Akahira-Azuma N, Harada N, Enomoto Y, Tsurusaki Y, Kurosawa K.
    • Journal Title

      Congenit Anom (Kyoto)

      Volume: 印刷中 Issue: 6 Pages: 188-190

    • DOI

      10.1111/cga.12273

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome2018

    • Author(s)
      Fujita Atsushi、Tsukaguchi Hiroyasu、Koshimizu Eriko、Nakazato Hitoshi、Itoh Kyoko、Kuraoka Shohei、Komohara Yoshihiro、Shiina Masaaki、Nakamura Shohei、Kitajima Mika、Tsurusaki Yoshinori、Miyatake Satoko、Ogata Kazuhiro、Iijima Kazumoto、Matsumoto Naomichi、Miyake Noriko
    • Journal Title

      Annals of Neurology

      Volume: 84 Issue: 6 Pages: 814-828

    • DOI

      10.1002/ana.25370

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder2018

    • Author(s)
      Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, ...Matsumoto N.
    • Journal Title

      Cell Reports

      Volume: 22(3) Issue: 3 Pages: 734-747

    • DOI

      10.1016/j.celrep.2017.12.074

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome2018

    • Author(s)
      Akahira-Azuma Moe、Tsurusaki Yoshinori、Enomoto Yumi、Mitsui Jun、Kurosawa Kenji
    • Journal Title

      Human Genome Variation

      Volume: 5 Issue: 1 Pages: 18011-18011

    • DOI

      10.1038/hgv.2018.11

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations2018

    • Author(s)
      Doi H、Koyano S、Miyatake S、Nakajima S、Nakazawa Y、Kunii M、Tomita-Katsumoto A、Oda K、Yamaguchi Y、Fukai R、Ikeda S、Kato R、Ogata K、Kubota S、Hayashi N、Takahashi K、Tada M、Tanaka K、Nakashima M、Tsurusaki Y et al.
    • Journal Title

      Journal of Human Genetics

      Volume: 63 Issue: 4 Pages: 417-423

    • DOI

      10.1038/s10038-017-0408-5

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy2018

    • Author(s)
      Nakashima Mitsuko、Kato Mitsuhiro、Aoto Kazushi、Shiina Masaaki、Belal Hazrat、Mukaida Souichi、Kumada Satoko、Sato Atsushi、Zerem Ayelet、Lerman-Sagie Tally、Lev Dorit、Leong Huey Yin、Tsurusaki Yoshinori、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Ogata Kazuhiro、Saitsu Hirotomo、Matsumoto Naomichi
    • Journal Title

      Annals of Neurology

      Volume: 83 Issue: 4 Pages: 794-806

    • DOI

      10.1002/ana.25208

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] A novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.2017

    • Author(s)
      Enomoto Y, Tsurusaki Y, Harada N, Aida N, Kurosawa K.
    • Journal Title

      Congenit Anom (Kyoto).

      Volume: 印刷中 Issue: 4 Pages: 145-146

    • DOI

      10.1111/cga.12258

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A novel UBE2A mutation causes X-linked intellectual disability type Nascimento2017

    • Author(s)
      Tsurusaki Yoshinori、Ohashi Ikuko、Enomoto Yumi、Naruto Takuya、Mitsui Jun、Aida Noriko、Kurosawa Kenji
    • Journal Title

      Human Genome Variation

      Volume: 4 Issue: 1 Pages: 17019-17019

    • DOI

      10.1038/hgv.2017.19

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.2017

    • Author(s)
      Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N.
    • Journal Title

      J Hum Genet.

      Volume: 印刷中 Issue: 8 Pages: 741-746

    • DOI

      10.1038/jhg.2017.24

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation2017

    • Author(s)
      Okamoto Nobuhiko、Ehara Eiji、Tsurusaki Yoshinori、Miyake Noriko、Matsumoto Naomichi
    • Journal Title

      Congenital Anomalies

      Volume: 58 Issue: 3 Pages: 105-107

    • DOI

      10.1111/cga.12242

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Presentation] Pathogenic variants in 77 individuals with Coffin-Siris syndrome2019

    • Author(s)
      F. Sekiguchi, N. Miyake, Y. Tsurusaki, N. Matsumoto
    • Organizer
      American Society of Human Genetics 2019 Annual Meeting
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Novel mutations of COL4A1 in four Japanese patients with variable CNS involvements2019

    • Author(s)
      N. Nishimura, Y. Enomoto, Y. Tsurusaki, T. Kumaki, H. Murakami, Y. Kuroda, T. Goto, K. Kurosawa
    • Organizer
      American Society of Human Genetics 2019 Annual Meeting
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Complex rearrangements of CREBBP detected in patients with Rubinstein-Taybi syndrome (RSTS)2019

    • Author(s)
      Y. Enomoto, Y. Tsurusaki, Y. Kuroda, H. Murakami, Y. Kimura, S. Shiiya, T. Naruto, Y. Kido, K. Kurosawa
    • Organizer
      American Society of Human Genetics 2019 Annual Meeting
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] The refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy, intellectual disability, and distinctive dysmorphic features2019

    • Author(s)
      Y. Kuroda, H. Murakami, Y. Kimura, Y. Enomoto, Y. Tsurusaki, T. Uehara, K. Kosaki, K. Kurosawa
    • Organizer
      American Society of Human Genetics 2019 Annual Meeting
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 多発性腫瘍素因を認めたCDC73を含む1q31.2q41 構造異常の1 例2019

    • Author(s)
      西村 直人、榎本 友美、鶴﨑 美徳、熊木 達郎、村上 博昭、黒田 友紀子、齋藤 敏幸、升野 光雄、黒澤 健司
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] NAA10のN 末端アセチルトランスフェラーゼドメインに変異を認めた2 症例2019

    • Author(s)
      村上 博昭、榎本 友美、西村 直人、熊木 達郎、鶴﨑 美徳、黒田 友紀子、黒澤 健司
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] GNB1遺伝子変異患者で神経脆弱性が示唆されたの症例の検討2019

    • Author(s)
      熊木 達郎、木村 雄一、辻 恵、榎本 友美、鶴﨑 美徳、上原 朋子、小崎 健次郎、黒澤 健司、後藤 知英
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 先天性実質性角膜ジストロフィーの日本人1 家系でみつかったDCN 新規変異2019

    • Author(s)
      榎本 友美、浅野 みづ季、村上 博昭、黒田 友紀子、鶴﨑 美徳、西村 直人、藤田 剛史、黒澤 健司
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly2018

    • Author(s)
      Y. Tsurusaki, Y. Sato, J. Shibasaki, N. Aida, K. Hiiragi, Y. Kimura, M. Akahira-Azuma, Y. Enomoto, K. Kurosawa
    • Organizer
      European Society of Human Genetics 2018 Meeting
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] Causative novel USP9X variants in two Japanese patients with X-linked intellectual disability2018

    • Author(s)
      Y. Tsurusaki, Y. Kuroda, H. Murakami, Y. Enomoto, Y. Kimura, Y. Yamanouchi, E. Kondoh, K. Ouchi, M. Masuno, K. Kurosawa
    • Organizer
      American Society of Human Genetics 2018 Meeting
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] De novo DPF2 variant in a Japanese patient with Coffin-Siris syndrome2018

    • Author(s)
      Y. Tsurusaki, T. Uehara, T. Takenouchi, Y. Enomoto, K. Kosaki, K. Kurosawa
    • Organizer
      日本人類遺伝学会第63回大会
    • Related Report
      2018 Research-status Report
  • [Presentation] Phenotype expansion for Kosaki Overgrowth Syndrome2017

    • Author(s)
      K. Kosaki, M. Minatogawa, T. Takenouchi, Y. Tsurusaki, F. Iwasaki, T. Uehara, C. J. Curry, K. Kurosawa
    • Organizer
      The European Society of Human Genetics 2017 Meeting
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] Homozygous deletion in RECQL4 caused by the rare identical haplotype2017

    • Author(s)
      Y. Enomoto, Y. Tsurusaki, T. Yokoi, M. Minatogawa, M. Umegae, T. Naruto, T. Shimokaze, K. Kurosawa
    • Organizer
      The European Society of Human Genetics 2017 Meeting
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] Microdeletion of 17q21.31 causes a novel malformation syndrome2017

    • Author(s)
      K. Kurosawa, M. Minatogawa, T. Yokoi, Y. Enomoto, K. Ida, N. Harada, J. Nagai, Y. Tsurusaki
    • Organizer
      American Society of Human Genetics 2017 Meeting
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] De novo missense variant in CSNK2A1 can cause intellectual disability, behavioral problem, and dysmorphic features: The first male child with Okur-Chung neurodevelopmental syndrome2017

    • Author(s)
      M. Akahira-Azuma, Y. Tsurusaki, Y. Enomoto, M. Minatogawa, T. Yokoi, K. Kurosawa
    • Organizer
      American Society of Human Genetics 2017 Meeting
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] Novel AHDC1 mutations cause intellectual disability and developmental delay2017

    • Author(s)
      Y. Tsurusaki, Y. Enomoto, K. Ida, K. Kurosawa
    • Organizer
      American Society of Human Genetics 2017 Meeting
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] 男児罹患同胞間で異なるKDM5C変異(X連鎖性)を認めた1家系2017

    • Author(s)
      藤田 京志、和賀 央子、八谷 靖夫、栗原 栄二、熊田 聡子、竹下 絵里、中川 栄二、井上 健、宮武 聡子、鶴﨑 美徳、中島 光子、才津 浩智、後藤 雄一、三宅 紀子、松本 直通
    • Organizer
      日本人類遺伝学会第62回大会
    • Related Report
      2017 Research-status Report
  • [Presentation] 難治性痙攣が終息したNicolaides-Baraitser症候群の日本人男児例2017

    • Author(s)
      松尾 真理、小国 弘量、三宅 紀子、鶴﨑 美徳、松本 直通、齋藤 加代子
    • Organizer
      日本人類遺伝学会第62回大会
    • Related Report
      2017 Research-status Report
  • [Presentation] NAA10変異を認めたLenz小眼球症の1例2017

    • Author(s)
      鈴村 宏、鶴﨑 美徳、岡本 伸彦、今高 城治、吉原 重美、三宅 紀子、松本 直通
    • Organizer
      日本人類遺伝学会第62回大会
    • Related Report
      2017 Research-status Report
  • [Presentation] MYPN遺伝子の劣性変異は小児期発症、緩徐進行性のネマリンミオパチーの原因である2017

    • Author(s)
      宮武 聡子、三橋 里美、林 由起子、輿水 江里子、鶴﨑 美徳、中島 光子、水口 剛、三宅 紀子、才津 浩智、埜中 征哉、西野 一三、松本 直通
    • Organizer
      日本人類遺伝学会第62回大会
    • Related Report
      2017 Research-status Report
  • [Presentation] CHD8変異をもった自閉症スペクトラム患者2017

    • Author(s)
      榎本 友美、鶴﨑 美徳、赤平 百絵、木村 雄一、成戸 卓也、黒澤 健司
    • Organizer
      日本人類遺伝学会第62回大会
    • Related Report
      2017 Research-status Report
  • [Presentation] Spondyloepiphyseal dysplasia congenita (SEDC)の遺伝学的検査による診断例2017

    • Author(s)
      赤平 百絵、黒澤 健司、鶴﨑 美徳、榎本 友美、横井 貴之、湊川 真理
    • Organizer
      日本人類遺伝学会第62回大会
    • Related Report
      2017 Research-status Report
  • [Presentation] 未診断多発奇形・知的障害に対する診断アルゴリズムの再検討2017

    • Author(s)
      横井 貴之、赤平 百絵、湊川 真理、井田 一美、原田 法彰、齋藤 敏幸、永井 淳一、鶴﨑 美徳、榎本 友美、成戸 卓也、黒澤 健司
    • Organizer
      日本人類遺伝学会第62回大会
    • Related Report
      2017 Research-status Report
  • [Presentation] 知的障害に関与するGNB1遺伝子のde novo変異2017

    • Author(s)
      鶴﨑 美徳、市川 和志、辻 恵、上原 朋子、武内 俊樹、榎本 友美、井田 一美、後藤 知英、小崎 健次郎、黒澤 健司
    • Organizer
      日本人類遺伝学会第62回大会
    • Related Report
      2017 Research-status Report

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Published: 2017-07-21   Modified: 2021-02-19  

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