Kurosawa K - Search Results

1

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y. Kobayashi T, et al. Among authors: kurosawa k. Hum Mutat. 2010 Mar;31(3):284-94. doi: 10.1002/humu.21187. Hum Mutat. 2010. PMID: 20052757

2

Osteogenesis imperfecta-like syndrome with severe mental retardation and extrapyramidal tract signs.

Nishimura G, Kurosawa K, Kobayashi H, Kawame H. Nishimura G, et al. Among authors: kurosawa k. Pediatr Radiol. 1998 Nov;28(11):856-8. doi: 10.1007/s002470050482. Pediatr Radiol. 1998. PMID: 9799318 Review.

3

Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature.

Kawame H, Sugio Y, Fuyama Y, Hayashi Y, Suzuki H, Kurosawa K, Maekawa K. Kawame H, et al. Among authors: kurosawa k. J Hum Genet. 1999;44(4):219-24. doi: 10.1007/s100380050147. J Hum Genet. 1999. PMID: 10429359 Review.

4

Patellar dislocation in Kabuki syndrome.

Kurosawa K, Kawame H, Ochiai Y, Nakashima M, Tohma T, Ohashi H. Kurosawa K, et al. Am J Med Genet. 2002 Mar 1;108(2):160-3. doi: 10.1002/ajmg.10247. Am J Med Genet. 2002. PMID: 11857567

5

Gonadal sex cord stromal tumor in a patient with Rubinstein-Taybi syndrome.

Kurosawa K, Fukutani K, Masuno M, Kawame H, Ochiai Y. Kurosawa K, et al. Pediatr Int. 2002 Jun;44(3):330-2. doi: 10.1046/j.1442-200x.2002.01539.x. Pediatr Int. 2002. PMID: 11982910 No abstract available.

6

A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy.

Okamoto N, Toribe Y, Nakajima T, Okinaga T, Kurosawa K, Nonaka I, Shimokawa O, Matsumoto N. Okamoto N, et al. Among authors: kurosawa k. J Hum Genet. 2002;47(10):556-9. doi: 10.1007/s100380200085. J Hum Genet. 2002. PMID: 12376748

7

Further delineation of the behavioral and neurologic features in Costello syndrome.

Kawame H, Matsui M, Kurosawa K, Matsuo M, Masuno M, Ohashi H, Fueki N, Aoyama K, Miyatsuka Y, Suzuki K, Akatsuka A, Ochiai Y, Fukushima Y. Kawame H, et al. Among authors: kurosawa k. Am J Med Genet A. 2003 Apr 1;118A(1):8-14. doi: 10.1002/ajmg.a.10236. Am J Med Genet A. 2003. PMID: 12605434

8

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.

Miyake N, Kurotaki N, Sugawara H, Shimokawa O, Harada N, Kondoh T, Tsukahara M, Ishikiriyama S, Sonoda T, Miyoshi Y, Sakazume S, Fukushima Y, Ohashi H, Nagai T, Kawame H, Kurosawa K, Touyama M, Shiihara T, Okamoto N, Nishimoto J, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: kurosawa k. Am J Hum Genet. 2003 May;72(5):1331-7. doi: 10.1086/375166. Epub 2003 Apr 9. Am J Hum Genet. 2003. PMID: 12687502 Free PMC article.

9

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: kurosawa k. Hum Mutat. 2003 Nov;22(5):378-87. doi: 10.1002/humu.10270. Hum Mutat. 2003. PMID: 14517949

10

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.

Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: kurosawa k. Am J Med Genet A. 2004 Jul 15;128A(2):170-2. doi: 10.1002/ajmg.a.30137. Am J Med Genet A. 2004. PMID: 15214010 No abstract available.

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