Published papers
Kosaki Kenjiro
181-200 items (total 326)
Caudal regression and tracheoesophageal malformation induced by adriamycin: A novel chick model of VATER association.
- Author
- KOSAKI KENJIRO,86. Naito Y, Kimura T, Aramaki M, Izumi K, Okada Y, Suzuki H, Takahashi T, Kosaki K.
- Publication Title
- Magazine name Pediatric Research, Start Page 607-612. (Publication Date）2009）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Effects of the CYP2D6*10 alleles and co-medication with CYP2D6-dependent drugs on risperidone metabolism in patients with schizophrenia.
- Author
- KOSAKI KENJIRO,Yagihashi T, Mizuno M, Chino B, Sato Y, Sakuma K, Takebayashi T, Takahashi T, Kosaki K.
- Publication Title
- Magazine name Human Psychopharmacology, Start Page 301-308. (Publication Date）2009）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Association between patient age at the time of surgical treatment for endometriosis and aryl hydrocarbon receptor repressor polymorphism.
- Author
- KOSAKI KENJIRO,Asada H, Yagihashi T, Furuya M, Kosaki K Takahashi T Yoshimura Y.
- Publication Title
- Magazine name Fertility and Sterility, Start Page 1240-1242. (Publication Date）2009）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis - Denaturing high-performance liquid chromatography assay.
- Author
- KOSAKI KENJIRO,Hattori M, Torii C, Yagihashi T, Izumi K, Suda N, Ohyama K, Takahashi T, Moriyama K, Kosaki K.
- Publication Title
- Magazine name Genetic Testing and Molecular Biomarkers, Start Page 623-630 (Publication Date）2009）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
- Author
- 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.
- Publication Title
- Magazine name European Journal of Human Genetics Start Page 1325-1335 (Publication Date）2009）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
遺伝子診断の臨床応用の促進
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 835 - End Page 839 (Publication Date）2008）
- Authorship Category
- Single Work
- Publication Category
- Research paper (scientific journal)
サブテロメア異常(微細欠失・微細重複)
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 405 - End Page 406 (Publication Date）2008）
- Authorship Category
- Single Work
- Publication Category
- Research paper (scientific journal)
単一遺伝子病
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 1246 - End Page 1249 (Publication Date）2008）
- Authorship Category
- Single Work
- Publication Category
- Research paper (scientific journal)
Split hand foot malformation with whorl-like pigmentary pattern: Phenotypic expression of somatic mosaicism for the p63 mutation.
- Author
- KOSAKI KENJIROKosaki R, Naito Y, Torii C, Takahashi T, Nakajima T,
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 2574 - End Page 2577 (Publication Date）2008）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
- Author
- 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
- Publication Title
- Magazine name Nature Genetics Start Page 237-242 (Publication Date）2008）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Influence of Methylenetetrahydrofolate Reductase and Reduced Folate Carrier 1 Polymorphisms on Toxicities during Maintenance Chemotherapy for Childhood Acute Lymphoblastic Leukemia or Lymphoma
- Author
- KOSAKI KENJIRO,Shimasaki N, Mori T, Torii C, Sato R, Shimada H, Tanigawara Y, Takahashi T
- Publication Title
- Magazine name Journal of pediatric hematology oncology Start Page 347-352 (Publication Date）2008）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome
- Author
- KOSAKI KENJIRO,Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Adachi M
- Publication Title
- Magazine name Journal of Clinical Endocrinology and Metabolism Start Page 920-924 (Publication Date）2008）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype
- Author
- KOSAKI KENJIRO,Izumi K, Yamashita Y, Aramaki M, Kosaki R, Hosokai N Takahashi T
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 1967-1971 (Publication Date）2008）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Tietz syndrome: Unique phenotype specific to mutations of MITF nuclear localization signal
- Author
- KOSAKI KENJIRO,Izumi K, Kohta T, Kimura Y, Takahashi T, Ishiko A
- Publication Title
- Magazine name Clinical Genetics Start Page 93-95 (Publication Date）2008）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Characteristic phenotype of immortalized periodontal cells isolated from a Marfan syndrome type I patient
- Author
- KOSAKI KENJIRO,Shiga M, Saito M, Hattori M, Torii C, Kiyono T, Suda N
- Publication Title
- Magazine name Cell and Tissue Research Start Page 461-472 (Publication Date）2008）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.
- Author
- Kosaki R, Migita O, Takahashi T, Kosaki K
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 702-705 (Publication Date）2008）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia.
- Author
- KOSAKI KENJIROKizu R, Nishimura K, Sato R, Kosaki K, Tanaka T, Tanigawara Y, Hasegawa T.
- Publication Title
- Magazine name Horm Res Paediatr (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
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
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 1621 - End Page 1623 (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2: Possible involvement of non-genetic or epigenetic regulation
- Author
- KOSAKI KENJIRO,Suda N, Hamada T, Hattori M, Torii C
- Publication Title
- Magazine name Orthodontics and Craniofacial Research Start Page 222-225 (Publication Date）2007）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes
- Author
- KOSAKI KENJIRO Numasawa-Kuroiwa Y, Okada Y, Shibata S, Kishi N, Akamatsu W, Shoji M, Nakanishi A, Oyama M, Osaka H, Inoue K, Takahashi K, Yamanaka S, Kosaki K, Takahashi T, Okano H.
- Publication Title
- Magazine name Stem Cell Reports Volume 2(Issue (5)) Start Page 648 - End Page 661 (Publication Date）2014）
- Publication Category
- Research paper (scientific journal)