Papers - Kosaki Kenjiro
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Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome. Birth Defects Reseach Part A
KOSAKI KENJIRO,Aramaki M, Kimura T, Udaka T, Kosaki R, Mitsuhashi T, Okada Y, Takahashi T
Clinical Molecular Teratology 79 50-57 2007
Research paper (scientific journal), Joint Work, Accepted
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An Alu Retrotransposition-Mediated Deletion of CHD7 in a Patient With CHARGE Syndrome
KOSAKI KENJIRO,Udaka T, Okamoto N, Aramaki M, Torii C, Kosaki R, Hosokai N, Hayakawa T, Takahata N, Takahashi T
American Journal of Medical Genetics 143 721-726 2007
Research paper (scientific journal), Joint Work, Accepted
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Monozygotic twins of Smith-Magenis syndrome
KOSAKI KENJIRO,Kosaki R, Okuyama T, Tanaka T, Migita O
American Journal of Medical Genetics 143 768-769 2007
Research paper (scientific journal), Joint Work, Accepted
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EFNB1 mutation at the ephrin ligand - ephrin receptor dimerization interface in a patient with craniofrontonasal syndrome
KOSAKI KENJIRO,Torii C, Izumi K, Nakajima H, Takahashi T
Congenital Anomalies 47 49-52 2007
Research paper (scientific journal), Joint Work, Accepted
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Partial deletion of LIS1: A pitfall in molecular diagnosis of Miller-Dieker syndrome
KOSAKI KENJIRO,Izumi K, Kuratsuji G, Ikeda K, Takahashi T
Pediatric Neurology 36 258-260 2007
Research paper (scientific journal), Joint Work, Accepted
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Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome
KOSAKI KENJIRO,Kosaki R, Fujimaru R, Samejima H, Yamada H, Izumi K, Iijima K
American Journal of Medical Genetics 143 1087-1890 2007
Research paper (scientific journal), Joint Work, Accepted
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Upper airway obstruction in neonates and infants with CHARGE syndrome
KOSAKI KENJIRO,Naito Y, Higuchi M, Koinuma G, Aramaki M, Takahashi T
American Journal of Medical Genetics 143 1815-1820 2007
Research paper (scientific journal), Joint Work, Accepted
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Identification of a prosencephalic-specific enhancer of SALL1: Comparative genomic approach using the chick embryo
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
Pediatric Research 61 660-665 2007
Research paper (scientific journal), Joint Work, Accepted
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Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography
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
Genetic Testing 11 216-227 2007
Research paper (scientific journal), Joint Work, Accepted
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Multiplex PCR/liquid Chromatography Assay for Screening of Subtelomeric Rearrangements
KOSAKI KENJIRO,Udaka T, Issei I, Aizu Y, Torii C, Izumi K, Kosaki R, Takahashi T, Hayashi S, Inazawa J
Genetic Testing (Genetic Testing) 11 241-248 2007
Research paper (scientific journal), Joint Work, Accepted
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Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family
KOSAKI KENJIRO,Izumi K, Nakano M, Kosaki K, Kosaki R, Hosokai N, Matsumoto H, Hasegawa T, Takahashi T
American Journal of Medical Genetics 143 2838-2842 2007
Research paper (scientific journal), Joint Work, Accepted
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Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2: Possible involvement of non-genetic or epigenetic regulation
KOSAKI KENJIRO,Suda N, Hamada T, Hattori M, Torii C
Orthodontics and Craniofacial Research 10 222-225 2007
Research paper (scientific journal), Joint Work, Accepted
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遺伝子診断を取り巻く最近の動向 遺伝子検査ネットワーク
KOSAKI KENJIRO
臨床検査 51 1621 - 1623 2007
Research paper (scientific journal), Joint Work
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薬効および副作用とその対策 抗てんかん薬
KOSAKI KENJIRO
小児科 47 783 - 788 2006
Research paper (scientific journal), Joint Work
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Molecular Pathology of Shprintzen-Goldberg Syndrome
KOSAKI KENJIRO, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T
American Journal of Medical Genetics 140 104-108 2006
Research paper (scientific journal), Joint Work, Accepted
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1173C>T polymorphism in VKORC1 modulates the required warfarin dose.
KOSAKI KENJIRO, Yamaghishi C, Sato R, Semejima H, Fuijita H, Tamura K, Maeyama K, Yamagishi H, Sugaya A, Dodo H, Tanigawara Y, Takahashi T
Pediatric Cardiology 27 685-688 2006
Research paper (scientific journal), Joint Work, Accepted
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Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF
KOSAKI KENJIRO,Izumi K, Yahagi N, Fujii Y, Higuchi M, Kosaki R, Naito Y, Nishimura G, Hosokai N, Takahashi T
American Journal of Medical Genetics 140 398-401 2006
Research paper (scientific journal), Joint Work, Accepted
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Effects of methylenetetrahydrofolate reductase and reduced folate carrier 1 polymorphisms on high-dose methotrexate-induced toxicities in children with acute lymphoblastic leukemia or lymphoma
KOSAKI KENJIRO,Shimasaki N, Mori T, Samejima H, Sato R, Shimada H, Yahagia N, Torii C, Yoshihara H, Tanigawara Y, Takahashi T
Journal of Pediatric Hematology and Oncology 28 64-68 2006
Research paper (scientific journal), Joint Work, Accepted
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Phenotypic spectrum of CHARGE syndrome with CHD7 mutations
KOSAKI KENJIRO,Aramaki M, Udaka T, Kosaki R, MakitaY, OkamotoN, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Takahashi T, Fukushima Y, Kawame H
Journal of Pediatrics 148 410-414 2006
Research paper (scientific journal), Joint Work, Accepted
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Hypothyroidism in Peters plus syndrome
KOSAKI KENJIRO,Kosaki R, Kamiishi A, Sugiyama R, Kawai M, Hasegawa T
Ophthalmic Genetics 27 67-69 2006
Research paper (scientific journal), Joint Work, Accepted