Gal A - Search Results

1

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.

Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A, et al. Nelis E, et al. Among authors: gal a. Eur J Hum Genet. 1996;4(1):25-33. doi: 10.1159/000472166. Eur J Hum Genet. 1996. PMID: 8800924 Free article.

2

Localization of a gene for X-linked nonspecific mental retardation (MRX24) in Xp22.2-p22.3.

Martínez F, Gal A, Palau F, Prieto F. Martínez F, et al. Among authors: gal a. Am J Med Genet. 1995 Jan 30;55(3):387-90. doi: 10.1002/ajmg.1320550328. Am J Med Genet. 1995. PMID: 7726242

3

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

Gal A, Mücke J, Theile H, Wieacker PF, Ropers HH, Wienker TF. Gal A, et al. Hum Genet. 1985;70(1):38-42. doi: 10.1007/BF00389456. Hum Genet. 1985. PMID: 2987105

4

Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II.

Bunge S, Rathmann M, Steglich C, Bondeson ML, Tylki-Szymanska A, Popowska E, Gal A. Bunge S, et al. Among authors: gal a. Eur J Hum Genet. 1998 Sep-Oct;6(5):492-500. doi: 10.1038/sj.ejhg.5200213. Eur J Hum Genet. 1998. PMID: 9801874

5

X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.

Orth U, Fairweather N, Exler MC, Schwinger E, Gal A. Orth U, et al. Among authors: gal a. Hum Mol Genet. 1994 Sep;3(9):1699-700. doi: 10.1093/hmg/3.9.1699. Hum Mol Genet. 1994. PMID: 7833935 No abstract available.

6

Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected.

Wicklein EM, Orth U, Gal A, Kunze K. Wicklein EM, et al. Among authors: gal a. J Neurol Neurosurg Psychiatry. 1997 Sep;63(3):379-81. doi: 10.1136/jnnp.63.3.379. J Neurol Neurosurg Psychiatry. 1997. PMID: 9328258 Free PMC article.

7

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nürnberg G, Nürnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hübner CA. Kurth I, et al. Among authors: gal a. Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464. Epub 2009 Oct 18. Nat Genet. 2009. PMID: 19838196

8

Clinical utility gene card for: Fabry disease.

Gal A, Beck M, Winchester B. Gal A, et al. Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.178. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934708 Free PMC article. No abstract available.

9

Clinical utility gene card for: Fabry disease - update 2016.

Gal A, Beck M, Höppner W, Germain DP. Gal A, et al. Eur J Hum Genet. 2017 Jun;25(7):e1-e3. doi: 10.1038/ejhg.2017.17. Epub 2017 Mar 22. Eur J Hum Genet. 2017. PMID: 28327573 Free PMC article. No abstract available.

10

Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285.

Xu SY, Denton M, Sullivan L, Daiger SP, Gal A. Xu SY, et al. Among authors: gal a. Hum Genet. 1996 Dec;98(6):741-3. doi: 10.1007/s004390050296. Hum Genet. 1996. PMID: 8931712

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