Bort S - 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: bort s. Eur J Hum Genet. 1996;4(1):25-33. doi: 10.1159/000472166. Eur J Hum Genet. 1996. PMID: 8800924 Free article.

2

Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.

Palau F, Löfgren A, De Jonghe P, Bort S, Nelis E, Sevilla T, Martin JJ, Vilchez J, Prieto F, Van Broeckhoven C. Palau F, et al. Among authors: bort s. Hum Mol Genet. 1993 Dec;2(12):2031-5. doi: 10.1093/hmg/2.12.2031. Hum Mol Genet. 1993. PMID: 8111370

3

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, Millán JM, Arpa J, Vílchez JJ, Prieto F, Van Broeckhoven C, Palau F. Bort S, et al. Hum Genet. 1997 Jun;99(6):746-54. doi: 10.1007/s004390050442. Hum Genet. 1997. PMID: 9187667

4

Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A.

Bort S, Martínez F, Palau F. Bort S, et al. Am J Hum Genet. 1997 Jan;60(1):230-3. Am J Hum Genet. 1997. PMID: 8981968 Free PMC article. No abstract available.

5

[The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth disease type 1].

Bort S, Sevilla T, Vílchez JJ, Prieto F, Palau F. Bort S, et al. Med Clin (Barc). 1995 May 6;104(17):648-52. Med Clin (Barc). 1995. PMID: 7623491 Spanish.

6

Hereditary neuropathy with liability to pressure palsies (HNPP) revealed after weight loss.

Cruz-Martínez A, Bort S, Arpa J, Palau F. Cruz-Martínez A, et al. Among authors: bort s. Eur Neurol. 1997;37(4):257-60. doi: 10.1159/000117463. Eur Neurol. 1997. PMID: 9208274 No abstract available.

7

[Deletion of 17p11.2 chromosome in Spanish families with hereditary neuropathy and abnormal sensitivity to pressure].

Pou Serradell A, Espadaler JM, Aragonés JM, Bufill E, Alameda F, Vílchez JJ, Sevilla T, Piqueras A, Palau F, Bort S. Pou Serradell A, et al. Among authors: bort s. Neurologia. 1995 Nov;10(9):367-74. Neurologia. 1995. PMID: 8554792 Spanish.

8

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.

Bort S, Sevilla T, García-Planells J, Blesa D, Paricio N, Vílchez JJ, Prieto F, Palau F. Bort S, et al. Hum Mutat. 1998;Suppl 1:S95-8. doi: 10.1002/humu.1380110132. Hum Mutat. 1998. PMID: 9452053 No abstract available.

9

Stage 2 of the Wellcome Trust UK-Irish bipolar affective disorder sibling-pair genome screen: evidence for linkage on chromosomes 6q16-q21, 4q12-q21, 9p21, 10p14-p12 and 18q22.

Lambert D, Middle F, Hamshere ML, Segurado R, Raybould R, Corvin A, Green E, O'Mahony E, Nikolov I, Mulcahy T, Haque S, Bort S, Bennett P, Norton N, Owen MJ, Kirov G, Lendon C, Jones L, Jones I, Holmans P, Gill M, Craddock N. Lambert D, et al. Among authors: bort s. Mol Psychiatry. 2005 Sep;10(9):831-41. doi: 10.1038/sj.mp.4001684. Mol Psychiatry. 2005. PMID: 15940300

10

An integrated physical and gene map of human distal chromosome 17q24-proximal 17q25 encompassing multiple disease loci.

Kalikin LM, George RA, Keller MP, Bort S, Bowler NS, Law DJ, Chance PF, Petty EM. Kalikin LM, et al. Among authors: bort s. Genomics. 1999 Apr 1;57(1):36-42. doi: 10.1006/geno.1998.5740. Genomics. 1999. PMID: 10191081

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