Kurosawa K - Search Results

1

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K. Kuroda Y, et al. Among authors: kurosawa k. Am J Med Genet A. 2015 Jun;167(6):1349-53. doi: 10.1002/ajmg.a.37002. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900396

2

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

Imaizumi K, Kimura J, Matsuo M, Kurosawa K, Masuno M, Niikawa N, Kuroki Y. Imaizumi K, et al. Among authors: kurosawa k. Am J Med Genet. 2002 Jan 1;107(1):58-60. doi: 10.1002/ajmg.10080. Am J Med Genet. 2002. PMID: 11807869

3

Paternal UPD14 is responsible for a distinctive malformation complex.

Kurosawa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T, Matsuo M, Imaizumi K, Kuroki Y, Nishimura G. Kurosawa K, et al. Am J Med Genet. 2002 Jul 1;110(3):268-72. doi: 10.1002/ajmg.10404. Am J Med Genet. 2002. PMID: 12116236

4

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

5

Dorsomedial thalamotomy (III). Influence upon function of autonomic nervous system.

WADA T, KUROSAWA K. WADA T, et al. Among authors: kurosawa k. Tohoku J Exp Med. 1951 Aug 25;54(3):237-8. doi: 10.1620/tjem.54.237. Tohoku J Exp Med. 1951. PMID: 14901376 Free article. No abstract available.

6

Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome.

Yamamoto T, Kurosawa K, Masuno M, Okuzumi S, Kondo S, Miyama S, Okamoto N, Aida N, Nishimura G. Yamamoto T, et al. Among authors: kurosawa k. Am J Med Genet A. 2005 Jun 1;135(2):130-3. doi: 10.1002/ajmg.a.30708. Am J Med Genet A. 2005. PMID: 15832359

7

A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies.

Yamamoto T, Ueda H, Kawataki M, Yamanaka M, Asou T, Kondoh Y, Harada N, Matsumoto N, Kurosawa K. Yamamoto T, et al. Among authors: kurosawa k. Am J Med Genet A. 2006 Jan 1;140(1):88-91. doi: 10.1002/ajmg.a.31055. Am J Med Genet A. 2006. PMID: 16333830

8

Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome.

Yamamoto T, Sameshima K, Sekido K, Aida N, Matsumoto N, Naritomi K, Kurosawa K. Yamamoto T, et al. Among authors: kurosawa k. Am J Med Genet A. 2006 Jun 15;140(12):1302-4. doi: 10.1002/ajmg.a.31297. Am J Med Genet A. 2006. PMID: 16691595

9

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y. Narumi Y, et al. Among authors: kurosawa k. Am J Med Genet A. 2007 Apr 15;143A(8):799-807. doi: 10.1002/ajmg.a.31658. Am J Med Genet A. 2007. PMID: 17366577

10

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.

Kuniba H, Sato D, Yoshiura K, Ohashi H, Kurosawa K, Miyake N, Kondoh T, Matsumoto T, Nagai T, Okamoto N, Fukushima Y, Naritomi K, Matsumoto N, Niikawa N. Kuniba H, et al. Among authors: kurosawa k. Am J Med Genet A. 2008 Jul 15;146A(14):1893-6. doi: 10.1002/ajmg.a.32382. Am J Med Genet A. 2008. PMID: 18553519 No abstract available.

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