Makita Y - Search Results

1

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.

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

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

4

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.

5

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

6

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.

7

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

8

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

9

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

10

Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion.

Adachi M, Tachibana K, Masuno M, Makita Y, Maesaka H, Okada T, Hizukuri K, Imaizumi K, Kuroki Y, Kurahashi H, Suwa S. Adachi M, et al. Among authors: makita y. Eur J Pediatr. 1998 Jan;157(1):34-8. doi: 10.1007/s004310050762. Eur J Pediatr. 1998. PMID: 9461360

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