Published papers
Kosaki Kenjiro
121-140 items (total 326)
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability.
- Author
- KOSAKI KENJIROHamada N, Negishi Y, Mizuno M, Miya F, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Tabata H, Saitoh S, Nagata KI.
- Publication Title
- Magazine name J Neurochem Volume 140(Issue (1)) Start Page 82 - End Page 95 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Case of dominant dystrophic epidermolysis bullosa with amniotic band syndrome.
- Author
- KOSAKI KENJIROSakiyama T, Umegaki-Arao N, Sasaki T, Amagai M, Kubo A.
- Publication Title
- Magazine name J Dermatol. Volume 44(Issue (1)) Start Page 102 - End Page 103 (Publication Date）2017）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.
- Author
- Okuno H, Renault Mihara F, Ohta S, Fukuda K, Kurosawa K, Akamatsu W, Sanosaka T, Kohyama J, Hayashi K, Nakajima K, Takahashi T, Wysocka J, Kosaki K, Okano H.
- Publication Title
- Magazine name Elife. (Publication Date）2017/11）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy.
- Author
- KOSAKI KENJIROTsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H.
- Publication Title
- Magazine name Eur J Hum Genet. Volume 24(Issue (12)) Start Page 1702 - End Page 1706 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Jacobsen syndrome, Braddock-Carey syndrome, and beyond: Reflections on intellectual disability accompanied with thrombocytopenia
- Author
- KOSAKI KENJIROTakenouchi T, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet. Volume 170(Issue (10)) Start Page 2578 - End Page 2579 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.
- Author
- KOSAKI KENJIROTakenouchi T, Yoshihashi H, Sakaguchi Y, Uehara T, Honda M, Takahashi T, Kosaki K, Miyama S.
- Publication Title
- Magazine name Am J Med Genet Volume 170(Issue (12)) Start Page 3249 - End Page 3252 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy.
- Author
- KOSAKI KENJIRO188.Fukushima H, Takenouchi T
- Publication Title
- Magazine name Am J Med Genet. Volume 170(Issue (9)) Start Page 2453 - End Page 2456 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.
- Author
- KOSAKI KENJIROTakenouchi T, Miura K, Uehara T, Mizuno S
- Publication Title
- Magazine name Am J Med Genet. Volume 170(Issue (10)) Start Page 2587 - End Page 2590 (Publication Date）2016）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family
- Author
- KOSAKI KENJIRO,Izumi K, Nakano M, Kosaki K, Kosaki R, Hosokai N, Matsumoto H, Hasegawa T, Takahashi T
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 2838-2842 (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Multiplex PCR/liquid Chromatography Assay for Screening of Subtelomeric Rearrangements
- Author
- KOSAKI KENJIRO,Udaka T, Issei I, Aizu Y, Torii C, Izumi K, Kosaki R, Takahashi T, Hayashi S, Inazawa J
- Publication Title
- Magazine name Genetic Testing Publisher Genetic Testing Start Page 241-248 (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography
- Author
- KOSAKI KENJIRO,Samejima H, Torii C, Kosaki R, Kurosawa K, Yoshihashi H, Muroya K, Okamoto N, Watanabe Y, Kosho T, Kubota M, Matsuda O, Goto M, Izumi K, Takahashi T
- Publication Title
- Magazine name Genetic Testing Start Page 216-227 (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Identification of a prosencephalic-specific enhancer of SALL1: Comparative genomic approach using the chick embryo
- Author
- KOSAKI KENJIRO,Izumi K, Aramaki M, Kimura T, Naito Y, Udaka T, Uchikawa M, Kondoh H, Suzuki H, Cho G, Okada Y, Takahashi T, Golden JA
- Publication Title
- Magazine name Pediatric Research Start Page 660-665 (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Upper airway obstruction in neonates and infants with CHARGE syndrome
- Author
- KOSAKI KENJIRO,Naito Y, Higuchi M, Koinuma G, Aramaki M, Takahashi T
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 1815-1820 (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome
- Author
- KOSAKI KENJIRO,Kosaki R, Fujimaru R, Samejima H, Yamada H, Izumi K, Iijima K
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 1087-1890 (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Partial deletion of LIS1: A pitfall in molecular diagnosis of Miller-Dieker syndrome
- Author
- KOSAKI KENJIRO,Izumi K, Kuratsuji G, Ikeda K, Takahashi T
- Publication Title
- Magazine name Pediatric Neurology Start Page 258-260 (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
EFNB1 mutation at the ephrin ligand - ephrin receptor dimerization interface in a patient with craniofrontonasal syndrome
- Author
- KOSAKI KENJIRO,Torii C, Izumi K, Nakajima H, Takahashi T
- Publication Title
- Magazine name Congenital Anomalies Start Page 49-52 (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Monozygotic twins of Smith-Magenis syndrome
- Author
- KOSAKI KENJIRO,Kosaki R, Okuyama T, Tanaka T, Migita O
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 768-769 (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
An Alu Retrotransposition-Mediated Deletion of CHD7 in a Patient With CHARGE Syndrome
- Author
- KOSAKI KENJIRO,Udaka T, Okamoto N, Aramaki M, Torii C, Kosaki R, Hosokai N, Hayakawa T, Takahata N, Takahashi T
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 721-726 (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome. Birth Defects Reseach Part A
- Author
- KOSAKI KENJIRO,Aramaki M, Kimura T, Udaka T, Kosaki R, Mitsuhashi T, Okada Y, Takahashi T
- Publication Title
- Magazine name Clinical Molecular Teratology Start Page 50-57 (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
薬効および副作用とその対策 抗てんかん薬
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 783 - End Page 788 (Publication Date）2006）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)