Fachal L - Search Results

1

No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort.

Fachal L, Gómez-Caamaño A, Alvarez Iglesias V, Gómez Carballa A, Calvo P, Salas A, Vega A. Fachal L, et al. J Hum Genet. 2014 Jul;59(7):411-4. doi: 10.1038/jhg.2014.46. Epub 2014 Jun 5. J Hum Genet. 2014. PMID: 24898828

2

Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN.

Blanco A, Graña B, Fachal L, Santamariña M, Cameselle-Teijeiro J, Ruíz-Ponte C, Carracedo A, Vega A. Blanco A, et al. Among authors: fachal l. Clin Genet. 2010 Feb;77(2):193-6. doi: 10.1111/j.1399-0004.2009.01309.x. Epub 2009 Nov 23. Clin Genet. 2010. PMID: 19930417 No abstract available.

3

Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease.

Salas A, Fachal L, Marcos-Alonso S, Vega A, Martinón-Torres F; Grupo de investigación ESIGEM (Estudio Sobre la Influencia Genética en la Enfermedad Meningocócica). Salas A, et al. Among authors: fachal l. PLoS One. 2009 Dec 17;4(12):e8347. doi: 10.1371/journal.pone.0008347. PLoS One. 2009. PMID: 20019817 Free PMC article.

4

BRCA1 mutations do not increase prostate cancer risk: results from a meta-analysis including new data.

Fachal L, Gómez-Caamaño A, Celeiro-Muñoz C, Peleteiro P, Blanco A, Carballo A, Forteza J, Carracedo A, Vega A. Fachal L, et al. Prostate. 2011 Dec;71(16):1768-79. doi: 10.1002/pros.21394. Epub 2011 Apr 25. Prostate. 2011. PMID: 21520156

5

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.

Rodríguez-Pazos L, Ginarte M, Fachal L, Toribio J, Carracedo A, Vega A. Rodríguez-Pazos L, et al. Among authors: fachal l. Br J Dermatol. 2011 Oct;165(4):906-11. doi: 10.1111/j.1365-2133.2011.10454.x. Epub 2011 Aug 4. Br J Dermatol. 2011. PMID: 21668430

6

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.

Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA. Spurdle AB, et al. Hum Mutat. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990146 Free PMC article.

7

TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients.

Fachal L, Gómez-Caamaño A, Sánchez-García M, Carballo A, Peleteiro P, Lobato-Busto R, Carracedo A, Vega A. Fachal L, et al. Radiother Oncol. 2012 May;103(2):206-9. doi: 10.1016/j.radonc.2012.01.015. Epub 2012 Mar 3. Radiother Oncol. 2012. PMID: 22385796

8

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.

Fachal L, Rodríguez-Pazos L, Ginarte M, Beiras A, Suárez-Peñaranda JM, Toribio J, Carracedo Á, Vega A. Fachal L, et al. Int J Dermatol. 2012 Apr;51(4):427-30. doi: 10.1111/j.1365-4632.2011.05171.x. Int J Dermatol. 2012. PMID: 22435431

9

Multiple local and recent founder effects of TGM1 in Spanish families.

Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A. Fachal L, et al. PLoS One. 2012;7(4):e33580. doi: 10.1371/journal.pone.0033580. Epub 2012 Apr 12. PLoS One. 2012. PMID: 22511925 Free PMC article.

10

Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients.

Fachal L, Gómez-Caamaño A, Peleteiro P, Carballo A, Calvo-Crespo P, Sánchez-García M, Lobato-Busto R, Carracedo A, Vega A. Fachal L, et al. Radiother Oncol. 2012 Dec;105(3):321-8. doi: 10.1016/j.radonc.2012.09.013. Epub 2012 Oct 15. Radiother Oncol. 2012. PMID: 23075580

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