Published papers
Kosaki Kenjiro
141-160 items (total 326)
低身長(小人症)を伴う遺伝性(先天性)症候群 Russell-Silver症候群
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 436 - End Page 439 (Publication Date）2006）
- Authorship Category
- Joint Work
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- Research paper (scientific journal)
Monopolar preparation of human lymphocytes for evaluation of the metaphase chromosome alignment
- Author
- KOSAKI KENJIRO,Kimura R, Takeshima K, Mizuno S, Machida J, Kamamoto M, Muro Y, Shimosato K, Wakamatsu N, Sonta S, Ono T
- Publication Title
- Magazine name Chromosome Science Start Page 75-83 (Publication Date）2006）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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Umbilical cord length in urinary tract abnormalities associated with oligohydramnios: Evidence regarding developmental pathogenesis.
- Author
- KOSAKI KENJIRO,Izumi K, Jones KL, Benirschke K
- Publication Title
- Magazine name Fetal and Pediatric Pathology Start Page 233-240 (Publication Date）2006）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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Kallmann Syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation
- Author
- KOSAKI KENJIRO,Ogata T, Fujiwara I, Ogawa E, Sato N, Udaka T
- Publication Title
- Magazine name Endocrine Journal Start Page 741-743 (Publication Date）2006）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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Comprehensive screening of CHD7 mutations among patients with CHARGE Syndrome using denaturing high-performance liquid chromatography
- Author
- KOSAKI KENJIRO,Aramaki M, Udaka T, Torii C, Samejima H, Kosaki R, Takahashi T
- Publication Title
- Magazine name Genetic Testing Start Page 244-251 (Publication Date）2006）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
- Without
Screening for partial deletions of CREBBP locus in Rubinstein-Taybi Syndrome patients using multiplex PCR / Liquid chromatography
- Author
- KOSAKI KENJIRO,Udaka T, Kurosawa K, Izumi K, Yoshida S, Tsukahara M, Okamoto N, Torii C, Kosaki R, Masuno M, Hosokai N, Takahashi T
- Publication Title
- Magazine name Genetic Testing Start Page 265-271 (Publication Date）2006）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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Genome-wide screening of dioxin-responsive genes in fetal brain: bioinformatic and experimental approaches
- Author
- KOSAKI KENJIRO,Fujita H, Samejima H, Kitagawa N, Mitsuhashi T, Washio T, Yonemoto J, Tomita M, Takahashi T
- Publication Title
- Magazine name Congenital Anomalies Start Page 135-143 (Publication Date）2006）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome
- Author
- KOSAKI KENJIRO,Niu D,Huang J, Li H, Liu K, Wang S, Chen Y, Udaka T, Izumi K
- Publication Title
- Magazine name Prenatal Diagnosis Start Page 1054-1057 (Publication Date）2006）
- Authorship Category
- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism
- Author
- KOSAKI KENJIRO,Kosaki R, Hanai S, Kakishima H, Okada MA, Hayashi S, Ito Y, Takahashi T
- Publication Title
- Magazine name Congenital Amomalies Start Page 115-117 (Publication Date）2006）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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Hypothyroidism in Peters plus syndrome
- Author
- KOSAKI KENJIRO,Kosaki R, Kamiishi A, Sugiyama R, Kawai M, Hasegawa T
- Publication Title
- Magazine name Ophthalmic Genetics Start Page 67-69 (Publication Date）2006）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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Phenotypic spectrum of CHARGE syndrome with CHD7 mutations
- Author
- 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
- Publication Title
- Magazine name Journal of Pediatrics Start Page 410-414 (Publication Date）2006）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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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
- Author
- KOSAKI KENJIRO,Shimasaki N, Mori T, Samejima H, Sato R, Shimada H, Yahagia N, Torii C, Yoshihara H, Tanigawara Y, Takahashi T
- Publication Title
- Magazine name Journal of Pediatric Hematology and Oncology Start Page 64-68 (Publication Date）2006）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF
- Author
- KOSAKI KENJIRO,Izumi K, Yahagi N, Fujii Y, Higuchi M, Kosaki R, Naito Y, Nishimura G, Hosokai N, Takahashi T
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 398-401 (Publication Date）2006）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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1173C>T polymorphism in VKORC1 modulates the required warfarin dose.
- Author
- KOSAKI KENJIRO, Yamaghishi C, Sato R, Semejima H, Fuijita H, Tamura K, Maeyama K, Yamagishi H, Sugaya A, Dodo H, Tanigawara Y, Takahashi T
- Publication Title
- Magazine name Pediatric Cardiology Start Page 685-688 (Publication Date）2006）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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Molecular Pathology of Shprintzen-Goldberg Syndrome
- Author
- KOSAKI KENJIRO, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 104-108 (Publication Date）2006）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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遺伝子診療学研究の進歩 再生医学との連携（遺伝子診療学（第2版）--遺伝子診断の進歩とゲノム治療の展望）--（遺伝子診断）
- Author
- KOSAKI KENJIRO
- Publication Title
- Volume 68(Issue 増刊号) Start Page 71 - End Page 75 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
臨床遺伝学の知識を深めよう
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 537 (Publication Date）2010）
- Authorship Category
- Single Work
- Publication Category
- Research paper (scientific journal)
形態異常へのアプローチ
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 1235 - End Page 1238 (Publication Date）2010）
- Authorship Category
- Single Work
- Publication Category
- Research paper (scientific journal)
Microdeletion of the Down syndrome critical region at 21q22.
- Author
- KOSAKI KENJIRO,Fujita H, Torii C, Kosaki R, Yamaguchi S, Kudoh J, Hayashi K, Takahashi T, Kosaki K.
- Publication Title
- Magazine name American Journal of Medical Genetics Volume 152(Issue 13) Start Page 950–953. (Publication Date）2010）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.
- Author
- KOSAKI KENJIRO,Izumi K, Okuno H, Maeyama K, Sato S, Yamamoto T, Torii C, Kosaki R, Takahashi T, Kosaki K.
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 1028–1032. (Publication Date）2010）
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- Joint Work
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- Research paper (scientific journal)
- Peer-review Status
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