Masuno M - Search Results

1

Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation.

Goobie S, Morrison J, Ginzberg H, Ellis L, Corey M, Masuno M, Imaizumi K, Kuroki Y, Fujiwara TM, Morgan K, Durie PR, Rommens JM. Goobie S, et al. Among authors: masuno m. Am J Med Genet. 1999 Jul 16;85(2):171-4. doi: 10.1002/(sici)1096-8628(19990716)85:2<171::aid-ajmg12>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10406671

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: masuno m. Am J Med Genet. 2002 Jan 1;107(1):58-60. doi: 10.1002/ajmg.10080. Am J Med Genet. 2002. PMID: 11807869

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. Among authors: masuno m. 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. Am J Med Genet. 1995 May 22;57(1):57-60. doi: 10.1002/ajmg.1320570113. Am J Med Genet. 1995. PMID: 7645599

5

Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3).

Masuno M, Imaizumi K, Nakamura M, Matsui K, Goto A, Kuroki Y. Masuno M, et al. Am J Med Genet. 1995 Dec 4;59(4):441-3. doi: 10.1002/ajmg.1320590409. Am J Med Genet. 1995. PMID: 8585563

6

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.

7

Hypoglycemia in Coffin-Siris syndrome.

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

8

Currarino triad with a terminal deletion 7q35-->qter.

Masuno M, Imaizumi K, Aida N, Tanaka Y, Sekido K, Ohhama Y, Nishi T, Kuroki Y. Masuno M, et al. J Med Genet. 1996 Oct;33(10):877-8. doi: 10.1136/jmg.33.10.877. J Med Genet. 1996. PMID: 8933345 Free PMC article.

9

Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).

Masuno M, Imaizumi K, Fukushima Y, Tanaka Y, Ishii T, Nakamura M, Kuroki Y. Masuno M, et al. J Med Genet. 1997 Nov;34(11):952-4. doi: 10.1136/jmg.34.11.952. J Med Genet. 1997. PMID: 9391896 Free PMC article.

10

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

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