KISHIMOTO Yoko 岸本洋子

… Alternative Names

NARUMI Yoko 鳴海洋子

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Researcher Number	60523074
Other IDs	https://orcid.org/0000-0003-2096-0538
Affiliation (based on the past Project Information) *help	2013 – 2014: 北里大学, 医学(系)研究科(研究院), 助教 2012: 信州大学, 医学部, 助教(特定雇用) 2010 – 2011: 信州大学, 医学部, 助教
Review Section/Research Field	Principal Investigator Pediatrics / Ophthalmology
Keywords	Principal Investigator 遺伝・先天異常学 / 家族性白内障 / 先天性白内障 / 外性器異常 / 多指症 / 視床下部過誤腫 / パリスターホール症候群

ヘジュ・チュニー症候群モデル細胞におけるNOTCHシグナル機能の解明Principal Investigator
- Principal Investigator
  
  岸本洋子
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kitasato University
Identification of causative gene in congenital cataract with cognitive deficitsPrincipal Investigator
- Principal Investigator
  
  KISHIMOTO Yoko
- Project Period (FY)
  2012 – 2013
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Ophthalmology
- Research Institution
  Kitasato University
  Shinshu University
Clinical characteristics of Pallister-Hall syndrome in JapanPrincipal Investigator
- Principal Investigator
  
  NARUMI Yoko
- Project Period (FY)
  2010 – 2011
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Shinshu University

All 2014 2013 2012 2011 2010 Other

All Journal Article Presentation Book

[Book] 今日の小児治療指針第15版2012
- Author(s)
  鳴海洋子
- Total Pages
  188
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-22790972
[Journal Article] Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.2014
- Author(s)
  Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T.
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 9999 Issue: 5 Pages: 1-5
- DOI
  10.1002/ajmg.a.36433
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791844, KAKENHI-PROJECT-25460405, KAKENHI-PROJECT-25462767
[Journal Article] Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing : a clinical report and review of literature2014
- Author(s)
  Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T
- Journal Title
  
  Am J Med Genet A
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791844
[Journal Article] Availability of DMD mRNA transcripts analysis in a patient with dystrophinopathy having a nonsense mutation2013
- Author(s)
  Narumi Y, Fueki N, Hayashi Y, Shiba N, Nishino I, Inaba Y, Kosho T, Fukushima Y, Nakamura A
- Journal Title
  
  Journal of neurology & translational neuroscience
  
  Volume: 1 Pages: 1005-1005
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791844
[Journal Article] Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.2013
- Author(s)
  Narumi Y, Min B-J, Shimizu K, Kazukawa I, Sameshima K, Nakamura K, Kosho T, Rhee Y, Chung YS, OH Kim, Fukushima Y, Park WY, Nishimura G.
- Journal Title
  
  American Journal of Medical Genetics
  
  Volume: 161 Issue: 3 Pages: 518-526
- DOI
  10.1002/ajmg.a.35772
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791844
[Journal Article] Exome sequencing in a family with an X-linked lethal malformation syndrome : clinical consequences of hemizygous truncating OFD1 mutations in male patients2012
- Author(s)
  Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N
- Journal Title
  
  Clin Genet
  
  Volume: (in press) Issue: 2 Pages: 135-144
- DOI
  10.1111/j.1399-0004.2012.01885.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24791844
[Journal Article] Fukushima Y Myelodysplastic syndrome in a child with 15q24 deletion syndrome2012
- Author(s)
  Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T
- Journal Title
  
  Am J Med Genet A
  
  Pages: 412-416
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790972
[Journal Article] Clinical variability in patients with NOTCH2 mutations : report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome2012
- Author(s)
  Narumi Y
- Journal Title
  
  Am J Med Genet A
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790972
[Journal Article] Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome2011
- Author(s)
  Narumi Y
- Journal Title
  
  Clin Dysmorphol
  
  Volume: 20 Issue: 3 Pages: 166-167
- DOI
  10.1097/mcd.0b013e32834659a8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790972
[Journal Article] Fukushima Y Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome2011
- Author(s)
  Narumi Y, Shiihara T, Yoshihashi H, Sakazume S, van der Knaap MS, Nishimura-Tadaki A, Matsumoto N
- Journal Title
  
  Clin Dysmorphol
  
  Pages: 166-167
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790972
[Journal Article] Myelodysplastic syndrome in a child with 15q24 deletion syndrome2011
- Author(s)
  Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y
- Journal Title
  
  Am J Med Genet
  
  Volume: 158(A) Issue: 2 Pages: 412-416
- DOI
  10.1002/ajmg.a.34395
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591357, KAKENHI-PROJECT-22790972
[Journal Article] Genital abnormalities in Pallister-Hall syndrome : Report of two patients and review of the literature2010
- Author(s)
  Narumi Y, Kosho T, Tsuruta G, Shiohara M, Shimazaki E, Mori T, Shimizu A, Igawa Y, Nishizawa S, Takagi K, Kawamura R, Wakui K, Fukushima Y
- Journal Title
  
  Am J Med Genet A
  
  Pages: 3143-3147
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790972
[Journal Article] Genital Abnormalities in Pallister-Hall Syndrome : Report of Two Patients and Review of the Literature.2010
- Author(s)
  鳴海洋子
- Journal Title
  
  American Journal of Medical Genetics
  
  Volume: 152A Pages: 3143-3147
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790972
[Presentation] 先天性白内障家系におけるMAF遺伝子新規変異の同定2013
- Author(s)
  鳴海洋子、仁科幸子、時光元温、青木洋子、小崎里華、涌井敬子、村田敏規、古庄知己、高田史男、福嶋義光
- Organizer
  日本人類遺伝学会
- Place of Presentation
  宮城県、仙台市
- Data Source
  KAKENHI-PROJECT-24791844
[Presentation] Missense mutation of MAF in a Japanese family with congenital cataract2013
- Author(s)
  Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Kosho T, Murata T, Takada F, Fukushima Y
- Organizer
  Annual Meeting American Society of Human Genetics
- Place of Presentation
  米国ボストン
- Year and Date
  2013-10-23
- Data Source
  KAKENHI-PROJECT-24791844
[Presentation] AKT シグナル伝達経路異常によるMPPH 症候群の臨床像2013
- Author(s)
  鳴海洋子, 平林伸一, 古庄知己, 涌井敬子, 福嶋義光
- Place of Presentation
  広島
- Year and Date
  2013-04-18
- Data Source
  KAKENHI-PROJECT-24791844
[Presentation] 先天性白内障家系におけるMAF 遺伝子遺伝子新規変異の同定2013
- Author(s)
  鳴海洋子, 仁科幸子, 時光元温, 青木洋子, 小崎里華, 涌井敬子, 村田敏規, 古庄知己, 福嶋義光
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台
- Year and Date
  2013-11-21
- Data Source
  KAKENHI-PROJECT-24791844
[Presentation] Missense mutation of MAF in a Japanese family with congenital cataract2013
- Author(s)
  Yoko Narumi,Sachiko Nishina, Motoharu Tokimitsu, Yoko Aoki, Rika Kosaki, Tomoki Kosho,Toshinori Murata, Fumio Takada, Yoshimitsu Fukushima
- Organizer
  American Society of Human Genetics
- Place of Presentation
  米国、ボストン
- Data Source
  KAKENHI-PROJECT-24791844
[Presentation] 好中球減少を伴う15q24欠失症候群の1例2011
- Author(s)
  鳴海洋子、塩原正明、涌井敬子、血小板減少
- Organizer
  日本小児遺伝学会第34回学術集会
- Place of Presentation
  横浜
- Year and Date
  2011-08-11
- Data Source
  KAKENHI-PROJECT-22790972
[Presentation] NOTCH2伝子変異を伴うHajdu-Cheney症候群の1例2011
- Author(s)
  鳴海洋子
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  幕張
- Year and Date
  2011-11-11
- Data Source
  KAKENHI-PROJECT-22790972
[Presentation] NOTCH2遺伝子変異を伴うHajdu-Cheney症候群の1例2011
- Author(s)
  鳴海洋子、古庄知己、中村恒一、西村玄、福嶋義光
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  幕張
- Year and Date
  2011-11-12
- Data Source
  KAKENHI-PROJECT-22790972
[Presentation] 血小板減少、好中球減少を伴う15q24欠失症候群の1例2011
- Author(s)
  鳴海洋子
- Organizer
  日本小児遺伝学会第34回学術集会
- Place of Presentation
  横浜
- Year and Date
  2011-08-11
- Data Source
  KAKENHI-PROJECT-22790972
[Presentation] Pallister-Hall症候群3例の臨床症状の検討2010
- Author(s)
  鳴海洋子、古庄知己、鶴田悟郎、塩原正明、井川靖彦、川目裕、河村理恵、涌井敬子、福嶋義光
- Organizer
  第33回日本小児遺伝学会学術集会
- Place of Presentation
  盛岡
- Year and Date
  2010-04-22
- Data Source
  KAKENHI-PROJECT-22790972
[Presentation] 信州大学病院における「アレイ外来」の取り組み2010
- Author(s)
  鳴海洋子、古庄知己、山下浩美、玉井眞理子、河村理恵、涌井敬子、関島良樹、櫻井晃洋、福嶋義光
- Organizer
  第33回日本遺伝カウンセリング学会学術集会
- Place of Presentation
  東京
- Year and Date
  2010-05-29
- Data Source
  KAKENHI-PROJECT-22790972
[Presentation] 福嶋義光Pallister-Hall症候群3例の臨床症状の検討2010
- Author(s)
  鳴海洋子、古庄知己、鶴田悟郎、塩原正明、井川靖彦、川目裕、河村理恵、涌井敬子、福嶋義光
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  さいたま市
- Year and Date
  2010-10-30
- Data Source
  KAKENHI-PROJECT-22790972
[Presentation] Fukushima Y Genital abnormalities in Pallister-Hall syndrome : two case report2010
- Author(s)
  Narumi Y, Kosho T, Tsuruta G, Shiohara M, Shimazaki E, Mori T, Shimizu A, Igawa Y, Kawamura R, Wakui K
- Organizer
  60th Annual Meeting American Society of Human Genetics
- Place of Presentation
  米国、ワシントンDC
- Year and Date
  2010-11-05
- Data Source
  KAKENHI-PROJECT-22790972
[Presentation] Pallister-Hall症候群3例の臨床症状の検討2010
- Author(s)
  鳴海洋子
- Organizer
  第55回日本人類遺伝学会
- Place of Presentation
  埼玉県さいたま市
- Year and Date
  2010-10-30
- Data Source
  KAKENHI-PROJECT-22790972
[Presentation] Genital Abnormalities in Pallister-Hall syndrome : Two Case Report.2010
- Author(s)
  鳴海洋子
- Organizer
  The American Society of Human Genetics
- Place of Presentation
  米国、ワシントンDC
- Year and Date
  2010-11-05
- Data Source
  KAKENHI-PROJECT-22790972
[Presentation] AKTシグナル伝達経路異常によるMPPH症候群の臨床像
- Author(s)
  鳴海洋子、平林伸一、古庄知己、涌井敬子、福嶋義光
- Organizer
  第36回日本様に遺伝学会学術集会
- Place of Presentation
  エソール広島
- Data Source
  KAKENHI-PROJECT-24791844
[Presentation] DMD遺伝子にナンセンス変異を持つBMD児　-予後予測におけるRT-PCR検査の有用性-
- Author(s)
  鳴海洋子、中村昭則、笛木昇、林由起子、西野一三
- Organizer
  第16回小児神経学会甲信越地方会
- Place of Presentation
  八ヶ岳ロイヤルホテル
- Data Source
  KAKENHI-PROJECT-24791844
[Presentation] NOTCH2遺伝子エキソン34変異陽性患者の臨床像の検討
- Author(s)
  鳴海洋子、清水健司、鮫島紀代子、數川逸郎、中村恒一、 Yumie Rhee、Yoon-Sok Chung、Ok-Hwa Kim、古庄知己、福嶋義光、 Woong-Yang Park、西村　玄
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  京王プラザホテル
- Data Source
  KAKENHI-PROJECT-24791844
[Presentation] Bardet-Biedl症候群の4例
- Author(s)
  才田謙、野田俊輔、鳴海洋子、小池健一
- Organizer
  第116回日本小児科学会学術集会
- Place of Presentation
  広島国際会議場
- Data Source
  KAKENHI-PROJECT-24791844
[Presentation] DMD遺伝子にナンセンス変異を持つBMD児　-予後予測におけるRT-PCR検査の有用性-
- Author(s)
  鳴海洋子、中村昭則、笛木昇、林由起子、西野一三
- Organizer
  第116回日本小児科学会学術集会
- Place of Presentation
  広島国際会議場
- Data Source
  KAKENHI-PROJECT-24791844

1. 土井宏

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
2. 塩原正明

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

KISHIMOTO Yoko 岸本 洋子

NARUMI Yoko 鳴海 洋子

Research Projects

Research Products

Co-Researchers

ヘジュ・チュニー症候群モデル細胞におけるNOTCHシグナル機能の解明Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Identification of causative gene in congenital cataract with cognitive deficitsPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Clinical characteristics of Pallister-Hall syndrome in JapanPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Book] 今日の小児治療指針第15版2012

Author(s)

Total Pages

Publisher

Data Source

[Journal Article] Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing : a clinical report and review of literature2014

Author(s)

Journal Title

Data Source

[Journal Article] Availability of DMD mRNA transcripts analysis in a patient with dystrophinopathy having a nonsense mutation2013

Author(s)

Journal Title

Data Source

[Journal Article] Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.2013

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Exome sequencing in a family with an X-linked lethal malformation syndrome : clinical consequences of hemizygous truncating OFD1 mutations in male patients2012

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Fukushima Y Myelodysplastic syndrome in a child with 15q24 deletion syndrome2012

Author(s)

Journal Title

Data Source

[Journal Article] Clinical variability in patients with NOTCH2 mutations : report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome2012

Author(s)

Journal Title

Data Source

[Journal Article] Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome2011

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Fukushima Y Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome2011

Author(s)

Journal Title

Data Source

[Journal Article] Myelodysplastic syndrome in a child with 15q24 deletion syndrome2011

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genital abnormalities in Pallister-Hall syndrome : Report of two patients and review of the literature2010

Author(s)

Journal Title

Data Source

[Journal Article] Genital Abnormalities in Pallister-Hall Syndrome : Report of Two Patients and Review of the Literature.2010

Author(s)

Journal Title

KISHIMOTO Yoko 岸本洋子

NARUMI Yoko 鳴海洋子