Makita Y - Search Results

1

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.

Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, Ikegawa S. Nakashima E, et al. Among authors: makita y. Hum Genet. 2004 Mar;114(4):345-8. doi: 10.1007/s00439-004-1081-2. Epub 2004 Jan 29. Hum Genet. 2004. PMID: 14749921

2

Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion.

Makita Y, Masuno M, Maizumi K, Tachibana K, Kuroki Y, Kurahashi H. Makita Y, et al. J Med Genet. 1995 Aug;32(8):669. doi: 10.1136/jmg.32.8.669. J Med Genet. 1995. PMID: 7473668 Free PMC article. No abstract available.

3

Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25).

Makita Y, Masuno M, Imaizumi K, Yamashita S, Ohba S, Ito D, Kuroki Y. Makita Y, et al. Am J Med Genet. 1995 May 22;57(1):19-21. doi: 10.1002/ajmg.1320570106. Am J Med Genet. 1995. PMID: 7645592 Review.

4

Autosomal dominant inheritance in Setleis syndrome.

Masuno M, Imaizumi K, Makita Y, Nakamura M, Kuroki Y. Masuno M, et al. Among authors: makita y. Am J Med Genet. 1995 May 22;57(1):57-60. doi: 10.1002/ajmg.1320570113. Am J Med Genet. 1995. PMID: 7645599

5

Osteodysplastic primordial dwarfism: a case with features of type II.

Masuno M, Imaizumi K, Nishimura G, Kurosawa K, Makita Y, Shimazaki Y, Kuroki Y. Masuno M, et al. Among authors: makita y. Clin Dysmorphol. 1995 Jan;4(1):57-62. Clin Dysmorphol. 1995. PMID: 7735506 Review.

6

Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.

Masuno M, Imaizumi K, Kurosawa K, Makita Y, Petrij F, Dauwerse HG, Breuning MH, Kuroki Y. Masuno M, et al. Among authors: makita y. Am J Med Genet. 1994 Dec 1;53(4):352-4. doi: 10.1002/ajmg.1320530409. Am J Med Genet. 1994. PMID: 7864045

7

Congenital heart defect in a patient with the Hallermann-Streiff syndrome.

Imaizumi K, Makita Y, Masuno M, Kuroki Y. Imaizumi K, et al. Among authors: makita y. Am J Med Genet. 1994 Dec 1;53(4):386-7. doi: 10.1002/ajmg.1320530419. Am J Med Genet. 1994. PMID: 7864053 No abstract available.

8

Male with type II autosomal recessive cutis laxa.

Imaizumi K, Kurosawa K, Makita Y, Masuno M, Kuroki Y. Imaizumi K, et al. Among authors: makita y. Clin Genet. 1994 Jan;45(1):40-3. doi: 10.1111/j.1399-0004.1994.tb03988.x. Clin Genet. 1994. PMID: 8149651

9

Hypoglycemia in Coffin-Siris syndrome.

Imaizumi K, Nakamura M, Masuno M, Makita Y, Kuroki Y. Imaizumi K, et al. Among authors: makita y. Am J Med Genet. 1995 Oct 23;59(1):49-50. doi: 10.1002/ajmg.1320590111. Am J Med Genet. 1995. PMID: 8849011

10

SPONASTRIME dysplasia: report on a female patient with severe skeletal changes.

Masuno M, Nishimura G, Adachi M, Hotsubo T, Tachibana K, Makita Y, Imaizumi K, Kuroki Y. Masuno M, et al. Among authors: makita y. Am J Med Genet. 1996 Dec 30;66(4):429-32. doi: 10.1002/(SICI)1096-8628(19961230)66:4<429::AID-AJMG8>3.0.CO;2-F. Am J Med Genet. 1996. PMID: 8989461

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