Published papers
Kosaki Kenjiro
161-180 items (total 326)
Ocular complications in Mulvihill-Smith syndrome.
- Author
- KOSAKI KENJIRO,Ibrahim OM, Takefumi Y, Dogru M, Negishi K, Kosaki K, Tsubota K.
- Publication Title
- Magazine name Eye (Lond), Start Page 1123-1124. (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption.
- Author
- Fujita H, Yanagi T, Kosaki R, Torii C, Bamba M, Takahashi T, Kosaki K.
- Publication Title
- Magazine name American Journal of Medical Genetics, Start Page 1033-1035 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
A case of Tessier number 7 cleft with severe micrognathia: prenatal sonographic and three-dimensional helical computed tomographic images.
- Author
- KOSAKI KENJIRO,Asai S, Tanaka M, Miyakoshi K, Kim SH, Minegishi K, Matsuzaki Y, Kosaki K, Ogata H, Yoshimura Y.
- Publication Title
- Magazine name Prenatal Diagnosis Start Page 159-161 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.
- Author
- 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.
- Publication Title
- Magazine name European Journal of Pediatrics, Start Page 839-844 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Two patients with Rubinstein-Taybi syndrome and severe pulmonary interstitial involvement.
- Author
- KOSAKI KENJIRO,Kosaki R, Kikuchi S, Koinuma G, Higuchi M, Torii C, Kawasaki K, Kosaki K.
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 1844-1846 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation.
- Author
- KOSAKI KENJIRO,Hosokawa S, Takahashi N, Kitajima H, Nakayama M, Kosaki K, Okamoto N.
- Publication Title
- Magazine name Congenital Anomalies Start Page 129-132 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Juvenile muscular atrophy of a unilateral upper extremity (Hirayama disease) in a patient with CHARGE syndrome,
- Author
- KOSAKI KENJIRO,Yagihashi T, Hatori K, Ishii K, Torii C, Momoshima S, Takahashi T, Kosaki K.
- Publication Title
- Magazine name Molecular Syndromology Start Page 91-94 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Cri-du-chat syndrome cytogenetically cryptic recombination aneusomy of chromosome 5: Implications in recurrence risk estimation.
- Author
- KOSAKI KENJIRO,Ohnuki Y, Torii C, Kosaki R, Yagihashi T, Sago H, Yasukawa K, Takahashi T, Kosaki K.
- Publication Title
- Magazine name Molecular Syndromology Start Page 95-98 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Late manifestations of Tricho-Rhino-Pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood.
- Author
- KOSAKI KENJIRO,Izumi K, Takagi M, Parikh A, Hahn A, Miskovsky S, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE.
- Publication Title
- Magazine name American Journal of Medical Genetics, Start Page 2115-2119 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin
- Author
- 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.
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 1919-1924 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
In utero exposure to dioxin causes neocortical dysgenesis through the actions of p27Kip1.
- Author
- KOSAKI KENJIRO,Mitsuhashi T, Yonemoto J, Sone H, Kosuge Y, Kosaki K, Takahashi T.
- Publication Title
- Magazine name Proceedings of the National Academy of Sciences of the United States of America Start Page 16331-16335 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia.
- Author
- KOSAKI KENJIRO,Suda N, Hattori M, Kosaki K, Banshodani A, Kozai K, Tanimoto K, Moriyama K.
- Publication Title
- Magazine name Orthod Craniofac Res Volume 45(Issue 13) Start Page 197-202 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Influence of CYP3A5 and ABCB1 gene polymorphisms on calcineurin inhibitor-related neurotoxicity after hematopoietic stem cell transplantation.
- Author
- 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.
- Publication Title
- Magazine name Clin Transplant Volume 24(Issue (6)) Start Page 855-861 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation.
- Author
- Yamada K, Fukushi D, Ono T, Kondo Y, Kimura R, Nomura N, Kosaki KJ, Yamada Y, Mizuno S, Wakamatsu N.
- Publication Title
- Magazine name American Journal of Medical Genetics Volume 152A(Issue 12) Start Page 3057-67 (Publication Date）2010）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Shprintzen-Goldberg症候群に伴った側彎症の4例
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 1063 - End Page 1069 (Publication Date）2009）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
MLPA法を用いたサブテロメア異常の検出
- Author
- KOSAKI KENJIRO
- Publication Title
- Volume 41(Issue 増刊号) Start Page 926 - End Page 928 (Publication Date）2009）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
過成長症候群
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 2186 - End Page 2187 (Publication Date）2009）
- Authorship Category
- Single Work
- Publication Category
- Research paper (scientific journal)
CHARGE症候群
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 330 - End Page 331 (Publication Date）2009）
- Authorship Category
- Single Work
- Publication Category
- Research paper (scientific journal)
Russell-Silver症候群
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 280 - End Page 290 (Publication Date）2009）
- Authorship Category
- Single Work
- Publication Category
- Research paper (scientific journal)
Case report: Adult phenotype of Mulvihill-Smith syndrome.
- Author
- KOSAKI KENJIROYagihashi T, Kato M, Izumi K, Kosaki R, Yago K, Tsubota K, Sato Y, Okubo M, Watanabe G, Takahashi T, Kosaki K.
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 496 - End Page 500 (Publication Date）2009）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)