Papers - Kosaki Kenjiro
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Russell-Silver症候群
KOSAKI KENJIRO
小児内科 41 増刊号 280 - 290 2009
Research paper (scientific journal), Single Work
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CHARGE症候群
KOSAKI KENJIRO
小児内科 41 増刊号 330 - 331 2009
Research paper (scientific journal), Single Work
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過成長症候群
KOSAKI KENJIRO
小児科臨床 62 2186 - 2187 2009
Research paper (scientific journal), Single Work
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MLPA法を用いたサブテロメア異常の検出
KOSAKI KENJIRO
小児内科 41 ( 増刊号 ) 926 - 928 2009
Research paper (scientific journal), Joint Work
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Effects of the CYP2D6*10 alleles and co-medication with CYP2D6-dependent drugs on risperidone metabolism in patients with schizophrenia.
KOSAKI KENJIRO,Yagihashi T, Mizuno M, Chino B, Sato Y, Sakuma K, Takebayashi T, Takahashi T, Kosaki K.
Human Psychopharmacology, 24 301-308. 2009
Research paper (scientific journal), Joint Work, Accepted
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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
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Association between patient age at the time of surgical treatment for endometriosis and aryl hydrocarbon receptor repressor polymorphism.
KOSAKI KENJIRO,Asada H, Yagihashi T, Furuya M, Kosaki K Takahashi T Yoshimura Y.
Fertility and Sterility, 92 1240-1242. 2009
Research paper (scientific journal), Joint Work, Accepted
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遺伝子診断の臨床応用の促進
KOSAKI KENJIRO
医学のあゆみ 特集臨床ゲノム研究 225 835 - 839 2008
Research paper (scientific journal), Single Work
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Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.
Kosaki R, Migita O, Takahashi T, Kosaki K
American Journal of Medical Genetics 149 702-705 2008
Research paper (scientific journal), Joint Work, Accepted
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Characteristic phenotype of immortalized periodontal cells isolated from a Marfan syndrome type I patient
KOSAKI KENJIRO,Shiga M, Saito M, Hattori M, Torii C, Kiyono T, Suda N
Cell and Tissue Research 331 461-472 2008
Research paper (scientific journal), Joint Work, Accepted
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Tietz syndrome: Unique phenotype specific to mutations of MITF nuclear localization signal
KOSAKI KENJIRO,Izumi K, Kohta T, Kimura Y, Takahashi T, Ishiko A
Clinical Genetics 74 93-95 2008
Research paper (scientific journal), Joint Work, Accepted
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Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype
KOSAKI KENJIRO,Izumi K, Yamashita Y, Aramaki M, Kosaki R, Hosokai N Takahashi T
American Journal of Medical Genetics 146 1967-1971 2008
Research paper (scientific journal), Joint Work
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Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome
KOSAKI KENJIRO,Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Adachi M
Journal of Clinical Endocrinology and Metabolism 93 920-924 2008
Research paper (scientific journal), Joint Work, Accepted
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Influence of Methylenetetrahydrofolate Reductase and Reduced Folate Carrier 1 Polymorphisms on Toxicities during Maintenance Chemotherapy for Childhood Acute Lymphoblastic Leukemia or Lymphoma
KOSAKI KENJIRO,Shimasaki N, Mori T, Torii C, Sato R, Shimada H, Tanigawara Y, Takahashi T
Journal of pediatric hematology oncology 30 347-352 2008
Research paper (scientific journal), Joint Work, Accepted
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Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
KOSAKI KENJIRO,Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Ferguson-Smith AC, Ishino F, Ogata T
Nature Genetics 40 237-242 2008
Research paper (scientific journal), Joint Work, Accepted
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Split hand foot malformation with whorl-like pigmentary pattern: Phenotypic expression of somatic mosaicism for the p63 mutation.
KOSAKI KENJIROKosaki R, Naito Y, Torii C, Takahashi T, Nakajima T,
American Journal of Medical Genetics 146 2574 - 2577 2008
Research paper (scientific journal), Joint Work
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単一遺伝子病
KOSAKI KENJIRO
小児内科 40 1246 - 1249 2008
Research paper (scientific journal), Single Work
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サブテロメア異常(微細欠失・微細重複)
KOSAKI KENJIRO
小児科臨床 61 405 - 406 2008
Research paper (scientific journal), Single Work
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Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia.
KOSAKI KENJIROKizu R, Nishimura K, Sato R, Kosaki K, Tanaka T, Tanigawara Y, Hasegawa T.
Horm Res Paediatr 2007
Research paper (scientific journal), Joint Work