KOSAKI Rika 小崎里華

… Alternative Names

小さき里華コサキリカ

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Researcher Number	50234745
Other IDs
Affiliation (Current)	2025: 国立研究開発法人国立成育医療研究センター, 遺伝診療センター, 診療部長
Affiliation (based on the past Project Information) *help	2024: 国立研究開発法人国立成育医療研究センター, 遺伝診療センター, 診療部長 2011: 独立行政法人国立成育医療研究センター, 器官病態系内科部・遺伝診療科, 医長 2010: 独立行政法人国立成育医療研究センター, 医長 2009: National Research Institute for Child Health and Development, 第一専門診療部遺伝診療科, 医長 2000: KEIO UNIVERSITY, HEALTH CENTER ASSISTANT, 付属研究所, 助手 1999 – 2000: 慶應義塾大学, 保健管理センター, 助手
Review Section/Research Field	Principal Investigator Pediatrics / Embryonic/Neonatal medicine Except Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics
Keywords	Principal Investigator アレイCGH / 遺伝 / 自閉症 / CGH法 / オリゴDNAアレイ / 小児神経学 / NODマウス / 固体糖尿病児 / 先天異常 / 糖尿病 … More / 奇形 / 催奇形因子 / 遺伝子変異 / 団体糖尿病 / 左右軸 / 内臓錯位 / 内臓逆位 … More Except Principal Investigator オートファジー / ゼブラフィッシュ / 早老症 / CONGENITAL MALFORMATIONS / MUTATION ANALYSIS / LEFT-RIGHT AXIS / SITUS AMBIGUUS / SITUS INVERSUS / 遺伝子変異 / 先天性心疾患 / 先天異常 / 変異解析 / 左右軸 / 内臓錯位 / 内臓逆位 Less

Environmental factors under autophagy regulation causing the development of Hutchinson-Gilford progeria syndrome
- Principal Investigator
  
  井原健二
- Project Period (FY)
  2024 – 2028
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Oita University
Delineation of molecular basis of autism using array CGHPrincipal Investigator
- Principal Investigator
  
  KOSAKI Rika
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  National Research Institute for Child Health and Development
団体糖尿病児の奇形発生の分子遺伝学的研究NODマウスにおける内臓逆位の検討Principal Investigator
- Principal Investigator
  
  小崎里華
- Project Period (FY)
  1999 – 2000
- Research Category
  
  Grant-in-Aid for Encouragement of Young Scientists (A)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Keio University
MOLECULAR GENETICS OF HUMAN LEFT-RIGHT AXIS MALFORMATIONS
- Principal Investigator
  
  KOSAKI Kenjiro
- Project Period (FY)
  1999 – 2000
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  KEIO UNIVERSITY

All 2012 2011 2010 2009

All Journal Article Presentation

[Journal Article] Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies2011
- Author(s)
  Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J
- Journal Title
  
  J Hum Genet
  
  Volume: 56(2) Pages: 110-24
- NAID
  10030657707
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma2011
- Author(s)
  Kosaki R, Fujita H, Takada H, Okada M, Torii C, Kosaki K
- Journal Title
  
  Am.J Med Genet A
  
  Volume: 155A(5) Pages: 1189-91
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion2011
- Author(s)
  Kosaki R, Fujita H, Ueoka K, Torii C, Kosaki K
- Journal Title
  
  Am.J Med Genet A
  
  Volume: 155(4) Pages: 903-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Branchial arch defects and 19p13.12 microdeletion : defining the critical region in to a 0.8 M base interval2011
- Author(s)
  Kosaki K, Saito H, Kosaki R, Torii C, Kishi K, Takahashi T
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A(9) Pages: 2212-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma2011
- Author(s)
  Kosaki R, Fujita H, Takada H, Okada M, Torii C, Kosaki K
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A(5) Pages: 1189-91
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion2011
- Author(s)
  Kosaki R, Fujita H, Ueoka K, Torii C, Kosaki K
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155(4) Pages: 903-5
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Branchial arch defects and 19p13.12 microdeletion : defining the critical region into a 0.8 M base interval2011
- Author(s)
  Kosaki K, Saito H, Kosaki R, Torii C, Kishi K, Takahashi T
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A(9) Pages: 2212-4
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Microdeletion of the Down syndrome critical region at 21q222010
- Author(s)
  Fujita H, Torii C, Kosaki R, Yamaguchi S, Kudoh J, Hayashi K, Takahashi T, Kosaki K
- Journal Title
  
  Am J Med Genet A
  
  Volume: 152A(4) Pages: 950-3
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Microdeletion of the Down syndrome critical region at 21q22. Am J Med Genet A.2010 Apr;152A(4): 950-3.2010
- Author(s)
  Fujita H, Torii C, Kosaki R, Yamaguchi S, Kudoh J, Hayashi K, Takahashi T, Kosaki K.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 152 Pages: 950-953
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Transverse limb defect in a patient with Jacobsen syndrome : concurrence of malformation and disruption.2010
- Author(s)
  Fujita H, Yanagi T, Kosaki R, Torii C, Bamba M, Takahashi T, Kosaki K.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 152 Pages: 1033-1035
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation.2010
- Author(s)
  Ohnuki Y, Torii C, Kosaki R, Yagihashi T, Sago H, Hayashi K, Yasukawa K, Takahashi T, Kosaki K.
- Journal Title
  
  Mol Syndromol.
  
  Volume: 2 Pages: 95-98
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Transverse limb defect in a patient with Jacobsen syndrome : concurrence of malformation and disruption2010
- Author(s)
  Fujita H, Yanagi T, Kosaki R, Torii C, Bamba M, Takahashi T, Kosaki K
- Journal Title
  
  Am J Med Genet A
  
  Volume: 152A(4) Pages: 1033-5
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Interstitial microdeletion of 4p16.3 : contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome2010
- Author(s)
  Izumi K, Okuno H, Maeyama K, Sato S, Yamamoto T, Torii C, Kosaki R, Takahashi T, Kosaki K
- Journal Title
  
  Am J Med Genet A
  
  Volume: 152A(4) Pages: 1028-32
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5 : Implications in Recurrence Risk Estimation2010
- Author(s)
  Ohnuki Y, Torii C, Kosaki R, Yagihashi T, Sago H, Hayashi K, Yasukawa K, Takahashi T, Kosaki K
- Journal Title
  
  Mol Syndromol
  
  Volume: 1(2) Pages: 95-98
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Interstitial microdeletion of 4p16.3 : contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome2010
- Author(s)
  Izumi K, Okuno H, Maeyama K, Sato S, Yamamoto T, Torii C, Kosaki R, Takahashi T, Kosaki K.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 152 Pages: 1028-1032
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family2009
- Author(s)
  Kosaki R, Migita O, Takahashi T, Kosaki K.
- Journal Title
  
  Am J Med Genet A. 149
  
  Pages: 702-705
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591341
[Journal Article] Adult phenotype of Mulvihill-Smith syndrome2009
- Author(s)
  Yagihashi T, Kato M, Izumi K, Kosaki R, Yago K, Tsubota K, Sato Y, Okubo M, Watanabe G, Takahashi T, Kosaki K.
- Journal Title
  
  Am J Med Genet A. 149
  
  Pages: 496-500
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591341
[Presentation] アレイCGHで2p部分欠失を認めた自閉症患者についての検討2012
- Author(s)
  藤田秀樹、小崎里華
- Organizer
  第35回日本小児遺伝学会
- Place of Presentation
  久留米
- Year and Date
  2012-04-19
- Data Source
  KAKENHI-PROJECT-21591341
[Presentation] G分染法でde novo均衡型と診断されたてんかん・発達遅滞症例のアレイCGH解析2011
- Author(s)
  藤田秀樹,小崎里華
- Organizer
  日本小児遺伝学会学術集会
- Year and Date
  2011-08-11
- Data Source
  KAKENHI-PROJECT-21591341
[Presentation] G分染法でde novo"均衡型"と診断されたてんかん・発達遅滞症例のアレイCGH解析2011
- Author(s)
  藤田秀樹、小崎里華
- Organizer
  第34回日本小児遺伝学会
- Place of Presentation
  東京
- Year and Date
  2011-08-11
- Data Source
  KAKENHI-PROJECT-21591341
[Presentation] 閉症患者検体を用いたアレイCGH解析による原因遺伝子の検討2011
- Author(s)
  藤田秀樹,小崎里華
- Organizer
  第51回日本先天異常学会学術集会
- Year and Date
  2011-07-22
- Data Source
  KAKENHI-PROJECT-21591341
[Presentation] Holoprosencephaly, ectrodactyly, and bilateral cleft lip-palate syndrome and Xq microduplication : A clue to understanding the genetic cause2010
- Author(s)
  Kosaki R., Okuno N. Torii C. Kosaki, K.
- Organizer
  American Society of Human Genetics
- Data Source
  KAKENHI-PROJECT-21591341
[Presentation] Holoprosencephaly, ectrodactyly, and bilateral cleft lip-palate syndrome and Xq microduplication : A clue to understanding the genetic cause.2010
- Author(s)
  Kosaki R., Okuno N., Torii C.Kosaki, K.
- Organizer
  American Society of Human Genetics
- Place of Presentation
  USA
- Data Source
  KAKENHI-PROJECT-21591341
[Presentation] 当院で経験した未診断の発達遅滞・先天性多発奇形症例のアレイCGH解析胎2010
- Author(s)
  藤田秀樹,鳥居千春,緒方勤,小崎健次郎,小崎里華
- Organizer
  第55回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-21591341
[Presentation] Microdeletion of the Down syndrome critical region at 21q22. American Society of Human Genetics, 20092009
- Author(s)
  R.Kosaki, H.Fujita, C.Torii, J.Kudoh, T.Takahashi, K.Kosaki
- Organizer
  American Society of Human Genetics
- Place of Presentation
  USA
- Data Source
  KAKENHI-PROJECT-21591341
[Presentation] Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome : clinical and genomic analyses on three patients with chromosomal defects at 6p252009
- Author(s)
  Tonoki, N.Harada, O.Shimokawa, T.Shinpo, N.Kudo, K.Sato, R.Kosaki, A.Sato, N.Matsumoto
- Organizer
  American Society of Human Genetics
- Place of Presentation
  USA
- Data Source
  KAKENHI-PROJECT-21591341
[Presentation] Interstitial microdeletion of 4p16.3 : Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome2009
- Author(s)
  R.Kosaki, K.Izumi, H.Okuno, K.Maeyama, S.Sato, T.Yamamoto, C.Torii, R.Kosaki, T.Takahashi
- Organizer
  American Society of Human Genetics
- Place of Presentation
  USA
- Data Source
  KAKENHI-PROJECT-21591341

1. KOSAKI Kenjiro (30234743)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
2. 井原健二 (80294932)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
3. 花田俊勝 (10363350)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
4. 松尾宗明 (20219398)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. 井上真紀 (20726913)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. Sebastian WulanApridita (60979540)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results

KOSAKI Rika 小崎 里華

小さき 里華 コサキ リカ

Research Projects

Research Products

Co-Researchers

Environmental factors under autophagy regulation causing the development of Hutchinson-Gilford progeria syndrome

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Delineation of molecular basis of autism using array CGHPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

団体糖尿病児の奇形発生の分子遺伝学的研究NODマウスにおける内臓逆位の検討Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

MOLECULAR GENETICS OF HUMAN LEFT-RIGHT AXIS MALFORMATIONS

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies2011

Author(s)

Journal Title

NAID

Data Source

[Journal Article] Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma2011

Author(s)

Journal Title

Data Source

[Journal Article] Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion2011

Author(s)

Journal Title

Data Source

[Journal Article] Branchial arch defects and 19p13.12 microdeletion : defining the critical region in to a 0.8 M base interval2011

Author(s)

Journal Title

Data Source

[Journal Article] Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma2011

Author(s)

Journal Title

Data Source

[Journal Article] Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion2011

Author(s)

Journal Title

Data Source

[Journal Article] Branchial arch defects and 19p13.12 microdeletion : defining the critical region into a 0.8 M base interval2011

Author(s)

Journal Title

Data Source

[Journal Article] Microdeletion of the Down syndrome critical region at 21q222010

Author(s)

Journal Title

Data Source

[Journal Article] Microdeletion of the Down syndrome critical region at 21q22. Am J Med Genet A.2010 Apr;152A(4): 950-3.2010

Author(s)

Journal Title

Data Source

[Journal Article] Transverse limb defect in a patient with Jacobsen syndrome : concurrence of malformation and disruption.2010

Author(s)

Journal Title

Data Source

[Journal Article] Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation.2010

Author(s)

Journal Title

Data Source

[Journal Article] Transverse limb defect in a patient with Jacobsen syndrome : concurrence of malformation and disruption2010

Author(s)

Journal Title

Data Source

[Journal Article] Interstitial microdeletion of 4p16.3 : contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome2010

Author(s)

KOSAKI Rika 小崎里華

小さき里華コサキリカ