Kawame H - Search Results

1

Germline mutations in HRAS proto-oncogene cause Costello syndrome.

Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y. Aoki Y, et al. Among authors: kawame h. Nat Genet. 2005 Oct;37(10):1038-40. doi: 10.1038/ng1641. Epub 2005 Sep 18. Nat Genet. 2005. PMID: 16170316

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: kawame h. 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. J Hum Genet. 1999;44(4):219-24. doi: 10.1007/s100380050147. J Hum Genet. 1999. PMID: 10429359 Review.

4

Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome.

Kawame H, Kurosawa K, Akatsuka A, Ochiai Y, Mizuno K. Kawame H, et al. Am J Med Genet. 2000 Sep 4;94(1):77-8. doi: 10.1002/1096-8628(20000904)94:1<77::aid-ajmg16>3.0.co;2-v. Am J Med Genet. 2000. PMID: 10982488 No abstract available.

5

Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation.

Akiyama M, Kawame H, Ohashi H, Tohma T, Ohta H, Shishikura A, Miyata I, Usui N, Eto Y. Akiyama M, et al. Among authors: kawame h. Am J Med Genet. 2001 Mar 1;99(2):111-4. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1150>3.0.co;2-c. Am J Med Genet. 2001. PMID: 11241467 Review.

6

Patellar dislocation in Kabuki syndrome.

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

7

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. Among authors: kawame h. 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.

8

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. 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

9

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: kawame h. 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.

10

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: kawame h. Hum Mutat. 2003 Nov;22(5):378-87. doi: 10.1002/humu.10270. Hum Mutat. 2003. PMID: 14517949

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