Ohashi H - Search Results

1

Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.

Nakamura A, Matsuura S, Tauchi H, Hanada R, Ohashi H, Hasegawa T, Honda K, Masuno M, Imaizumi K, Sugita K, Ide T, Komatsu K. Nakamura A, et al. Among authors: ohashi h. J Hum Genet. 1999;44(1):48-51. doi: 10.1007/s100380050106. J Hum Genet. 1999. PMID: 9929978

2

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.

Ikegawa S, Nishimura G, Nagai T, Hasegawa T, Ohashi H, Nakamura Y. Ikegawa S, et al. Among authors: ohashi h. Am J Hum Genet. 1998 Dec;63(6):1659-62. doi: 10.1086/302158. Am J Hum Genet. 1998. PMID: 9837818 Free PMC article.

3

Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.

Murata T, Kurokawa R, Krones A, Tatsumi K, Ishii M, Taki T, Masuno M, Ohashi H, Yanagisawa M, Rosenfeld MG, Glass CK, Hayashi Y. Murata T, et al. Among authors: ohashi h. Hum Mol Genet. 2001 May 1;10(10):1071-6. doi: 10.1093/hmg/10.10.1071. Hum Mol Genet. 2001. PMID: 11331617

4

Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene.

Ikegawa S, Masuno M, Kumano Y, Okawa A, Isomura M, Koyama K, Okui K, Makita Y, Sasaki M, Kohdera U, Okuda M, Koyama H, Ohashi H, Tajiri H, Imaizumi K, Nakamura Y. Ikegawa S, et al. Among authors: ohashi h. Clin Genet. 1999 Jun;55(6):466-72. doi: 10.1034/j.1399-0004.1999.550612.x. Clin Genet. 1999. PMID: 10450865

5

Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping.

Kuwano A, Morimoto Y, Nagai T, Fukushima Y, Ohashi H, Hasegawa T, Kondo I. Kuwano A, et al. Among authors: ohashi h. Hum Genet. 1996 Jan;97(1):95-8. doi: 10.1007/BF00218841. Hum Genet. 1996. PMID: 8557270

6

Premature aging and immunodeficiency: Mulvihill-Smith syndrome?

Ohashi H, Tsukahara M, Murano I, Fujita K, Matsuura S, Fukushima Y, Kajii T. Ohashi H, et al. Am J Med Genet. 1993 Mar 1;45(5):597-600. doi: 10.1002/ajmg.1320450516. Am J Med Genet. 1993. PMID: 8456831 Review.

7

No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients.

Kobayashi S, Uemura H, Kohda T, Nagai T, Chinen Y, Naritomi K, Kinoshita EI, Ohashi H, Imaizumi K, Tsukahara M, Sugio Y, Tonoki H, Kishino T, Tanaka T, Yamada M, Tsutsumi O, Niikawa N, Kaneko-Ishino T, Ishino F. Kobayashi S, et al. Among authors: ohashi h. Am J Med Genet. 2001 Dec 1;104(3):225-31. Am J Med Genet. 2001. PMID: 11754049

8

The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization.

Fukushima Y, Ohashi H, Hasegawa T. Fukushima Y, et al. Among authors: ohashi h. Clin Genet. 1993 Jul;44(1):50. doi: 10.1111/j.1399-0004.1993.tb03843.x. Clin Genet. 1993. PMID: 8403456 No abstract available.

9

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y. Ikegawa S, et al. Among authors: ohashi h. Am J Med Genet. 2000 Oct 2;94(4):300-5. doi: 10.1002/1096-8628(20001002)94:4<300::aid-ajmg7>3.0.co;2-3. Am J Med Genet. 2000. PMID: 11038443 Review.

10

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).

Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y, Kim KC, Ohashi H, Wakui K, Fukushima Y. Hasegawa T, et al. Among authors: ohashi h. Am J Med Genet. 1997 Dec 31;73(4):416-8. doi: 10.1002/(sici)1096-8628(19971231)73:4<416::aid-ajmg9>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9415468 Review.

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