Published papers
Kosaki Kenjiro
201-220 items (total 326)
Clinical Utility of an Array Comparative Genomic Hybridization Analysis for Williams Syndrome
- Author
- KOSAKI KENJIRO Yagihashi T, Torii C, Takahashi R, Omori M, Kosaki R, Yoshihashi H, Ihara M, Minagawa-Kawai Y, Yamamoto J, Takahashi T, Kosaki K
- Publication Title
- Magazine name Congenit Anom (Kyoto) Volume 54(Issue (4)) Start Page 225 - End Page 227 (Publication Date）2014）
- Publication Category
- Research paper (scientific journal)
Coexistence of two distinct fascinating cardiovascular disorders: Heterotaxy syndrome with left ventricular non-compaction and vasospastic angina.
- Author
- KOSAKI KENJIRO Egashira T, Yuasa S, Kimura M, Sawano M, Anzai A, Hayashida K, Kawamura A, Kimura T, Nishiyama N, Aizawa Y, Takatsuki S, Tsuruta H, Murata M, Yamada Y, Kohno T, Maekawa Y, Sano M, Kosaki K, Fukuda K
- Publication Title
- Magazine name Int J Cardiol Volume 174(Issue (2)) Start Page e54 - End Page 56 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations
- Author
- KOSAKI KENJIRO Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano SI, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N.
- Publication Title
- Magazine name Am J Med Genet A. Volume 164(Issue (8)) Start Page 1899 - End Page 1908 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome
- Author
- KOSAKI KENJIRO Shoji Y, Ida S, Etani Y, Yamada H, Kayatani F, Suzuki Y, Kosaki K, Okamoto N.
- Publication Title
- Magazine name Clin Pediatr Endocrinol. Volume 23(Issue (2)) Start Page 45 - End Page 51 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Progressive cognitive decline in an adult patient with cleidocranial dysplasia.
- Author
- KOSAKI KENJIRO Takenouchi T, Sato W, Torii C, Kosaki K.
- Publication Title
- Magazine name Eur J Med Genet. Volume 57(Issue (7)) Start Page 319 - End Page 321 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype
- Author
- KOSAKI KENJIRO Takenouchi T, Matsuzaki Y, Yamamoto K, Kosaki K, Torii C, Takahashi T, Kosaki K.
- Publication Title
- Magazine name Eur J Med Genet Volume 57(Issue (6)) Start Page 298 - End Page 301 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay.
- Author
- KOSAKI KENJIRO Takenouchi T, Hashida N, Torii C, Kosaki R, Takahashi T, Kosaki K
- Publication Title
- Magazine name Am J Med Genet A. Volume 164(Issue (2)) Start Page 456 - End Page 460 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Family History and BRCA1/BRCA2 Status Among Japanese Ovarian Cancer Patients and Occult Cancer in a BRCA1 Mutant Case
- Author
- KOSAKI KENJIRO Hirasawa A, Masuda K, Akahane T, Ueki A, Yokota M, Tsuruta T, Nomura H, Kataoka F, Tominaga E, Banno K, Makita K, Susumu N, Sugano K, Kosaki K, Kameyama K, Aoki D.
- Publication Title
- Magazine name Jpn J Clin Oncol Volume 44(Issue (1)) Start Page 49 - End Page 56 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Multiple café au lait spots in familial patients with MAP2K2 mutation
- Author
- KOSAKI KENJIRO Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet A Volume 164(Issue (2)) Start Page 392 - End Page 396 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Somatic CTNNB1 mutation in hepatoblastoma from a patient withSimpson-Golabi-Behmel syndrome and germline GPC3 mutation.
- Author
- KOSAKI KENJIRO Kosaki R, Takenouchi T, Takeda N, Kagami M, Nakabayashi K, Hata K, Kosaki K .
- Publication Title
- Magazine name Am J Med Genet A Volume 164A(Issue (4)) Start Page 392 - End Page 396 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.
- Author
- KOSAKI KENJIRO Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T
- Publication Title
- Magazine name Pituitary Volume 17(Issue (6)) Start Page 569 - End Page 574 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
遺伝性疾患におけるターゲットリシーケンシングの有用性 (第1土曜特集 エクソーム解析 : 成果と将来)
- Author
- KOSAKI KENJIRO
- Publication Title
- Volume 245(Issue (5)) Start Page 369 - End Page 371 (Publication Date）2013）
- Authorship Category
- Single Work
- Publication Category
- Research paper (scientific journal)
Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis
- Author
- KOSAKI KENJIROKubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M.
- Publication Title
- Magazine name Am J Hum Genet. Volume 93(Issue (5)) Start Page 945 - End Page 956 (Publication Date）2013）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
- Author
- KOSAKI KENJIROMutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T.
- Publication Title
- Magazine name Orphanet J Rare Dis. Volume 8(Issue (1)) Start Page 172 (Publication Date）2013）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
- Author
- KOSAKI KENJIROTakenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, Kosaki K
- Publication Title
- Magazine name Am J Med Genet A Volume 161(Issue (12)) Start Page 3057 - End Page 3062 (Publication Date）2013）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Polymorphisms in the UGT1A1 gene predict adverse effects of irinotecan in the treatment of gynecologic cancer in Japanese patients.
- Author
- KOSAKI KENJIRO136.Hirasawa A, Zama T, Akahane T, Nomura H, Kataoka F, Saito K, Okubo K, Tominaga E, Makita K, Susumu N, Kosaki K, Tanigawara Y, Aoki D.
- Publication Title
- Magazine name J Hum Gene Volume 58(Issue (12)) Start Page 794 - End Page 798 (Publication Date）2013）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Daytime somnolence in an adult with Smith-Magenis syndrome
- Author
- KOSAKI KENJIRO134.Takenouchi T, Saito T,Oishi N,Fukushima H,Kosaki R, Torii C, Takahashi T,Kosaki K.
- Publication Title
- Magazine name American Journal of Medical Genetics Volume 161A(Issue (7)) Start Page 1803 - End Page 1805 (Publication Date）2013）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Potential Teratogenicity of Methimazole: Exposure of Zebrafish Embryos to Methimazole Causes Similar Developmental Anomalies to Human Methimazole Embryopathy.
- Author
- KOSAKI KENJIROKomoike Y, Matsuoka M, Kosaki K.
- Publication Title
- Magazine name Birth Defects Res B Dev Reprod Toxicol Volume 98(Issue (3)) Start Page 222 - End Page 229 (Publication Date）2013）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Persistent hypertension despite successful dilation of a stenotic renal artery in a boy with neurofibromatosis type 1.
- Author
- KOSAKI KENJIROUeda K, Awazu M, Konishi Y, Takenouchi T, Shimozato S, Kosaki K, Takahashi T
- Publication Title
- Magazine name Am J Med Genet A Volume 161(Issue 5) Start Page 1154-1157 (Publication Date）2013）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Large Congenital Melanocytic Nevi With Atypical Teratoid/Rhabdoid Tumor.
- Author
- KOSAKI KENJIROYamazaki F, Osumi T, Kosaki K, Mikami S, Hirato J, Shimada H.
- Publication Title
- Magazine name Pediatr Blood Cancer Volume 60(Issue (7)) Start Page 1240 - End Page 1241 (Publication Date）2013）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With