López-Alonso M - Search Results

1

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.

Borrego S, Sáez ME, Ruiz A, Gimm O, López-Alonso M, Antiñolo G, Eng C. Borrego S, et al. J Med Genet. 1999 Oct;36(10):771-4. doi: 10.1136/jmg.36.10.771. J Med Genet. 1999. PMID: 10528857 Free PMC article.

2

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.

Borrego S, Wright FA, Fernández RM, Williams N, López-Alonso M, Davuluri R, Antiñolo G, Eng C. Borrego S, et al. Am J Hum Genet. 2003 Jan;72(1):88-100. doi: 10.1086/345466. Epub 2002 Dec 9. Am J Hum Genet. 2003. PMID: 12474140 Free PMC article.

3

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.

Ruiz-Ferrer M, Fernández RM, Antiñolo G, López-Alonso M, Eng C, Borrego S. Ruiz-Ferrer M, et al. Genet Med. 2006 Nov;8(11):704-10. doi: 10.1097/01.gim.0000245632.06064.f1. Genet Med. 2006. PMID: 17108762 Free article.

4

Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease.

Fernandez RM, Ruiz-Ferrer M, Lopez-Alonso M, Antiñolo G, Borrego S. Fernandez RM, et al. J Pediatr Surg. 2008 Nov;43(11):2042-7. doi: 10.1016/j.jpedsurg.2008.05.018. J Pediatr Surg. 2008. PMID: 18970938

5

A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique.

Núñez-Torres R, Fernández RM, López-Alonso M, Antiñolo G, Borrego S. Núñez-Torres R, et al. BMC Med Genet. 2009 Nov 19;10:119. doi: 10.1186/1471-2350-10-119. BMC Med Genet. 2009. PMID: 19925665 Free PMC article.

6

New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease.

Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G, Borrego S. Sánchez-Mejías A, et al. Genet Med. 2010 Jan;12(1):39-43. doi: 10.1097/GIM.0b013e3181c371b0. Genet Med. 2010. PMID: 20009762 Free article.

7

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.

Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, López-Alonso M, Hernández A, Wright FA, Antiñolo G, Eng C. Borrego S, et al. J Med Genet. 2000 Aug;37(8):572-8. doi: 10.1136/jmg.37.8.572. J Med Genet. 2000. PMID: 10922382 Free PMC article.

8

Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.

Fernandez RM, Boru G, Peciña A, Jones K, López-Alonso M, Antiñolo G, Borrego S, Eng C. Fernandez RM, et al. J Med Genet. 2005 Apr;42(4):322-7. doi: 10.1136/jmg.2004.023960. J Med Genet. 2005. PMID: 15805159 Free PMC article.

9

A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease.

Fernández RM, Sánchez-Mejías A, Mena MD, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S. Fernández RM, et al. Ann Hum Genet. 2009 Jan;73(1):19-25. doi: 10.1111/j.1469-1809.2008.00479.x. Epub 2008 Oct 20. Ann Hum Genet. 2009. PMID: 19040714

10

Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family.

Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G, Borrego S. Sánchez-Mejías A, et al. J Med Genet. 2009 Dec;46(12):862-4. doi: 10.1136/jmg.2009.067819. Epub 2009 Jun 25. J Med Genet. 2009. PMID: 19556619

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