Estivill X - Search Results

1

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G. Witsch-Baumgartner M, et al. Among authors: estivill x. J Med Genet. 2008 Apr;45(4):200-9. doi: 10.1136/jmg.2007.053520. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965227

2

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Giménez J, Reis A, Varon-Mateeva R, Macek M Jr, Kalaydjieva L, et al. Morral N, et al. Among authors: estivill x. Nat Genet. 1994 Jun;7(2):169-75. doi: 10.1038/ng0694-169. Nat Genet. 1994. PMID: 7920636

3

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

Morral N, Nunes V, Casals T, Chillón M, Giménez J, Bertranpetit J, Estivill X. Morral N, et al. Among authors: estivill x. Hum Mol Genet. 1993 Jul;2(7):1015-22. doi: 10.1093/hmg/2.7.1015. Hum Mol Genet. 1993. PMID: 7689896

4

Human genetics moves from clinic to bench--and back.

Ogorelkova M, Estivill X. Ogorelkova M, et al. Among authors: estivill x. Genome Biol. 2005;6(9):343. doi: 10.1186/gb-2005-6-9-343. Epub 2005 Aug 31. Genome Biol. 2005. PMID: 16168096 Free PMC article.

5

De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene.

Barceló A, Girós M, Sarde CO, Pintos G, Mandel JL, Pàmpols T, Estivill X. Barceló A, et al. Among authors: estivill x. Hum Genet. 1995 Feb;95(2):235-7. doi: 10.1007/BF00209412. Hum Genet. 1995. PMID: 7860075

6

Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.

Casals T, Nunes V, Lázaro C, Giménez FJ, Girbau E, Volpini V, Estivill X. Casals T, et al. Among authors: estivill x. J Med Genet. 1991 Nov;28(11):771-6. doi: 10.1136/jmg.28.11.771. J Med Genet. 1991. PMID: 1770534 Free PMC article.

7

Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene.

Rabionet R, Estivill X. Rabionet R, et al. Among authors: estivill x. J Med Genet. 1999 Mar;36(3):260-1. J Med Genet. 1999. PMID: 10204859 Free PMC article.

8

Genes as causes: scientific fact or simplistic thinking?

Real FX, Bertranpetit J, Estivill X. Real FX, et al. Among authors: estivill x. J Epidemiol Community Health. 2000 Jul;54(7):559-60. doi: 10.1136/jech.54.7.559. J Epidemiol Community Health. 2000. PMID: 10991647 Free PMC article. No abstract available.

9

Geographic distribution and origin of CFTR mutations in Germany.

Tümmler B, Storrs T, Dziadek V, Dörk T, Meitinger T, Golla A, Bertele-Harms RM, Harms HK, Schröder E, Claass A, Rutjes J, Schneppenheim R, Bauer I, Breuel K, Stuhrmann M, Schmidtke J, Lindner M, Eigel A, Horst J, Kaiser R, Lentze MJ, Schmidt K, von der Hardt H, Estivill X. Tümmler B, et al. Among authors: estivill x. Hum Genet. 1996 Jun;97(6):727-31. doi: 10.1007/BF02346181. Hum Genet. 1996. PMID: 8641688

10

Cystic fibrosis in a low-incidence population: two major mutations in Finland.

Kere J, Estivill X, Chillón M, Morral N, Nunes V, Norio R, Savilahti E, de la Chapelle A. Kere J, et al. Among authors: estivill x. Hum Genet. 1994 Feb;93(2):162-6. doi: 10.1007/BF00210603. Hum Genet. 1994. PMID: 7509311

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