Papers - Kosaki Kenjiro
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Influence of CYP3A5 and ABCB1 gene polymorphisms on calcineurin inhibitor-related neurotoxicity after hematopoietic stem cell transplantation.
KOSAKI KENJIRO,Yanagimachi M, Naruto T, Tanoshima R, Kato H, Yokosuka T, Kajiwara R, Fujii H, Tanaka F, Goto H, Yagihashi T, Kosaki K, Yokota S.
Clin Transplant 24 ( (6) ) 855-861 2010
Research paper (scientific journal), Joint Work, Accepted
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Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia.
KOSAKI KENJIRO,Suda N, Hattori M, Kosaki K, Banshodani A, Kozai K, Tanimoto K, Moriyama K.
Orthod Craniofac Res 45 ( 13 ) 197-202 2010
Research paper (scientific journal), Joint Work, Accepted
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In utero exposure to dioxin causes neocortical dysgenesis through the actions of p27Kip1.
KOSAKI KENJIRO,Mitsuhashi T, Yonemoto J, Sone H, Kosuge Y, Kosaki K, Takahashi T.
Proceedings of the National Academy of Sciences of the United States of America 107 16331-16335 2010
Research paper (scientific journal), Joint Work, Accepted
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Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin
KOSAKI KENJIRO,Fukushima H, Kosaki K, Sato R, Yagihashi T, Gatayama R, Kodo K, Hayashi T, Nakazawa M, Tsuchihashi T, Maeda J, Kojima Y, Yamagishi H, Takahashi T.
American Journal of Medical Genetics 152 1919-1924 2010
Research paper (scientific journal), Joint Work, Accepted
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Late manifestations of Tricho-Rhino-Pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood.
KOSAKI KENJIRO,Izumi K, Takagi M, Parikh A, Hahn A, Miskovsky S, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE.
American Journal of Medical Genetics, 152 2115-2119 2010
Research paper (scientific journal), Joint Work, Accepted
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Cri-du-chat syndrome cytogenetically cryptic recombination aneusomy of chromosome 5: Implications in recurrence risk estimation.
KOSAKI KENJIRO,Ohnuki Y, Torii C, Kosaki R, Yagihashi T, Sago H, Yasukawa K, Takahashi T, Kosaki K.
Molecular Syndromology 1 95-98 2010
Research paper (scientific journal), Joint Work, Accepted
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Juvenile muscular atrophy of a unilateral upper extremity (Hirayama disease) in a patient with CHARGE syndrome,
KOSAKI KENJIRO,Yagihashi T, Hatori K, Ishii K, Torii C, Momoshima S, Takahashi T, Kosaki K.
Molecular Syndromology 1 91-94 2010
Research paper (scientific journal), Joint Work, Accepted
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Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation.
KOSAKI KENJIRO,Hosokawa S, Takahashi N, Kitajima H, Nakayama M, Kosaki K, Okamoto N.
Congenital Anomalies 50 129-132 2010
Research paper (scientific journal), Joint Work, Accepted
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Two patients with Rubinstein-Taybi syndrome and severe pulmonary interstitial involvement.
KOSAKI KENJIRO,Kosaki R, Kikuchi S, Koinuma G, Higuchi M, Torii C, Kawasaki K, Kosaki K.
American Journal of Medical Genetics 152 1844-1846 2010
Research paper (scientific journal), Joint Work, Accepted
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Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.
KOSAKI KENJIRO,Inoue H, Takada H, Kusuda T, Goto T, Ochiai M, Kinjo T, Muneuchi J, Takahata Y, Takahashi N, Morio T, Kosaki K, Hara T.
European Journal of Pediatrics, 169 839-844 2010
Research paper (scientific journal), Joint Work, Accepted
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A case of Tessier number 7 cleft with severe micrognathia: prenatal sonographic and three-dimensional helical computed tomographic images.
KOSAKI KENJIRO,Asai S, Tanaka M, Miyakoshi K, Kim SH, Minegishi K, Matsuzaki Y, Kosaki K, Ogata H, Yoshimura Y.
Prenatal Diagnosis 30 159-161 2010
Research paper (scientific journal), Joint Work, Accepted
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Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption.
Fujita H, Yanagi T, Kosaki R, Torii C, Bamba M, Takahashi T, Kosaki K.
American Journal of Medical Genetics, 152A 1033-1035 2010
Research paper (scientific journal), Joint Work, Accepted
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Ocular complications in Mulvihill-Smith syndrome.
KOSAKI KENJIRO,Ibrahim OM, Takefumi Y, Dogru M, Negishi K, Kosaki K, Tsubota K.
Eye (Lond), 24 1123-1124. 2010
Research paper (scientific journal), Joint Work, Accepted
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Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.
KOSAKI KENJIRO,Izumi K, Okuno H, Maeyama K, Sato S, Yamamoto T, Torii C, Kosaki R, Takahashi T, Kosaki K.
American Journal of Medical Genetics 152 1028–1032. 2010
Research paper (scientific journal), Joint Work, Accepted
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Microdeletion of the Down syndrome critical region at 21q22.
KOSAKI KENJIRO,Fujita H, Torii C, Kosaki R, Yamaguchi S, Kudoh J, Hayashi K, Takahashi T, Kosaki K.
American Journal of Medical Genetics 152 ( 13 ) 950–953. 2010
Research paper (scientific journal), Joint Work, Accepted
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形態異常へのアプローチ
KOSAKI KENJIRO
小児内科 42 1235 - 1238 2010
Research paper (scientific journal), Single Work
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臨床遺伝学の知識を深めよう
KOSAKI KENJIRO
日本医師会雑誌 特集 「臨床遺伝学の進歩と日常診療」 537 2010
Research paper (scientific journal), Single Work
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Shprintzen-Goldberg症候群に伴った側彎症の4例
KOSAKI KENJIRO
臨床整形外科 44 1063 - 1069 2009
Research paper (scientific journal), Joint Work
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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
KOSAKI KENJIRO,Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G.
European Journal of Human Genetics 17 1325-1335 2009
Research paper (scientific journal), Joint Work, Accepted
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Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis - Denaturing high-performance liquid chromatography assay.
KOSAKI KENJIRO,Hattori M, Torii C, Yagihashi T, Izumi K, Suda N, Ohyama K, Takahashi T, Moriyama K, Kosaki K.
Genetic Testing and Molecular Biomarkers, 13 623-630 2009
Research paper (scientific journal), Joint Work, Accepted