Masuno M - Search Results

1

Osteopathia striata, short stature, and characteristic facies: a previously unknown skeletal dysplasia.

Nishimura G, Okada T, Tachibana K, Adachi M, Masuno M, Imaizumi K, Aida N. Nishimura G, et al. Among authors: masuno m. Eur J Pediatr. 1997 Aug;156(8):631-5. doi: 10.1007/s004310050680. Eur J Pediatr. 1997. PMID: 9266196

2

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. 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

3

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: masuno m. Eur J Pediatr. 1998 Jan;157(1):34-8. doi: 10.1007/s004310050762. Eur J Pediatr. 1998. PMID: 9461360

4

Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.

Masuno M, Imaizumi K, Okada T, Adachi M, Nishimura G, Ishii T, Tachibana K, Kuroki Y. Masuno M, et al. Am J Med Genet. 1999 May 7;84(1):8-11. doi: 10.1002/(sici)1096-8628(19990507)84:1<8::aid-ajmg2>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10213038

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. Clin Dysmorphol. 1995 Jan;4(1):57-62. Clin Dysmorphol. 1995. PMID: 7735506 Review.

6

Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation.

Masuno M, Imaizumi K, Aida N, Nishimura G, Kimura J, Kuroki Y. Masuno M, et al. Clin Dysmorphol. 2000 Jan;9(1):59-60. doi: 10.1097/00019605-200009010-00012. Clin Dysmorphol. 2000. PMID: 10649800

7

Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2).

Imaizumi K, Masuno M, Ishii T, Kuroki Y, Okuzumi N, Nakamura Y. Imaizumi K, et al. Among authors: masuno m. Am J Med Genet. 1997 Dec 19;73(3):244-6. doi: 10.1002/(sici)1096-8628(19971219)73:3<244::aid-ajmg2>3.0.co;2-s. Am J Med Genet. 1997. PMID: 9415677

8

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: masuno m. 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

9

Autosomal dominant inheritance in Setleis syndrome.

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

10

Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

Masuno M, Imaizumi K, Nishimura G, Nakamura M, Saito I, Akagi K, Kuroki Y. Masuno M, et al. J Med Genet. 1995 Nov;32(11):894-5. doi: 10.1136/jmg.32.11.894. J Med Genet. 1995. PMID: 8592336 Free PMC article.

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