Ohashi H - Search Results

1

New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization.

Ohashi H, Ishikiriyama S, Fukushima Y. Ohashi H, et al. Am J Med Genet. 1993 Jan 1;45(1):123-8. doi: 10.1002/ajmg.1320450136. Am J Med Genet. 1993. PMID: 8418650

2

De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly.

Fukushima Y, Ohashi H, Wakui K, Nishimoto H, Sato M, Aihara T. Fukushima Y, et al. Among authors: ohashi h. Am J Med Genet. 1995 Jul 3;57(3):447-9. doi: 10.1002/ajmg.1320570317. Am J Med Genet. 1995. PMID: 7677149

3

Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.

Nagai T, Nishimura G, Kato R, Hasegawa T, Ohashi H, Fukushima Y. Nagai T, et al. Among authors: ohashi h. Am J Med Genet. 1995 Jan 2;55(1):16-8. doi: 10.1002/ajmg.1320550106. Am J Med Genet. 1995. PMID: 7702088

4

A stable acentric marker chromosome: possible existence of an intercalary ancient centromere at distal 8p.

Ohashi H, Wakui K, Ogawa K, Okano T, Niikawa N, Fukushima Y. Ohashi H, et al. Am J Hum Genet. 1994 Dec;55(6):1202-8. Am J Hum Genet. 1994. PMID: 7977381 Free PMC article.

5

Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome).

Nagai T, Nishimura G, Kasai H, Hasegawa T, Kato R, Ohashi H, Fukushima Y. Nagai T, et al. Among authors: ohashi h. Am J Med Genet. 1994 Feb 1;49(3):278-80. doi: 10.1002/ajmg.1320490307. Am J Med Genet. 1994. PMID: 8209886

6

Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization.

Fukushima Y, Hoovers J, Mannens M, Wakui K, Ohashi H, Ohno T, Ueoka Y, Niikawa N. Fukushima Y, et al. Among authors: ohashi h. Hum Genet. 1993 Apr;91(3):205-9. doi: 10.1007/BF00218257. Hum Genet. 1993. PMID: 8478003

7

Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting.

Coêlho KE, Egashira M, Kato R, Fujimoto M, Matsumoto N, Rerkamnuaychoke B, Abe K, Harada N, Ohashi H, Fukushima Y, Niikawa N. Coêlho KE, et al. Among authors: ohashi h. Am J Med Genet. 1996 Jun 14;63(3):468-71. doi: 10.1002/(SICI)1096-8628(19960614)63:3<468::AID-AJMG10>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8737654

8

Interstitial duplication 8q22-q24: report of a case proven by FISH with mapped cosmid probes.

Wakui K, Ohashi H, Yamagishi A, Hamano S, Nara T, Ishikiriyama S, Nakamura Y, Fukushima Y. Wakui K, et al. Among authors: ohashi h. Am J Med Genet. 1996 Oct 2;65(1):36-9. doi: 10.1002/(SICI)1096-8628(19961002)65:1<36::AID-AJMG5>3.0.CO;2-W. Am J Med Genet. 1996. PMID: 8914738 Review.

9

Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13.

Kim KC, Wakui K, Yamagishi A, Ohno T, Sato M, Imaizumi S, Aihara T, Fukushima Y, Ohashi H. Kim KC, et al. Among authors: ohashi h. Am J Med Genet. 1997 Jan 10;68(1):70-3. doi: 10.1002/(sici)1096-8628(19970110)68:1<70::aid-ajmg13>3.0.co;2-l. Am J Med Genet. 1997. PMID: 8986279

10

Börjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation.

Kubota T, Oga S, Ohashi H, Iwamoto Y, Fukushima Y. Kubota T, et al. Among authors: ohashi h. Am J Med Genet. 1999 Nov 26;87(3):258-61. Am J Med Genet. 1999. PMID: 10564881

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