Núñez-Torres R - Search Results

1

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.

Fernández RM, Núñez-Torres R, González-Meneses A, Antiñolo G, Borrego S. Fernández RM, et al. BMC Med Genet. 2010 Sep 22;11:137. doi: 10.1186/1471-2350-11-137. BMC Med Genet. 2010. PMID: 20860806 Free PMC article.

2

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.

3

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.

Sánchez-Mejías A, Núñez-Torres R, Fernández RM, Antiñolo G, Borrego S. Sánchez-Mejías A, et al. BMC Med Genet. 2010 May 11;11:71. doi: 10.1186/1471-2350-11-71. BMC Med Genet. 2010. PMID: 20459765 Free PMC article.

4

Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.

Ruiz-Ferrer M, Torroglosa A, Núñez-Torres R, de Agustín JC, Antiñolo G, Borrego S. Ruiz-Ferrer M, et al. PLoS One. 2011;6(8):e23475. doi: 10.1371/journal.pone.0023475. Epub 2011 Aug 12. PLoS One. 2011. PMID: 21858136 Free PMC article.

5

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.

Núñez-Torres R, Fernández RM, Acosta MJ, Enguix-Riego Mdel V, Marbá M, Carlos de Agustín J, Castaño L, Antiñolo G, Borrego S. Núñez-Torres R, et al. BMC Med Genet. 2011 Oct 13;12:138. doi: 10.1186/1471-2350-12-138. BMC Med Genet. 2011. PMID: 21995290 Free PMC article.

6

Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.

Fernández RM, Núñez-Torres R, García-Díaz L, de Agustín JC, Antiñolo G, Borrego S. Fernández RM, et al. Am J Med Genet A. 2012 Apr;158A(4):816-20. doi: 10.1002/ajmg.a.35244. Epub 2012 Feb 17. Am J Med Genet A. 2012. PMID: 22344793

7

Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.

Luzón-Toro B, Torroglosa A, Núñez-Torres R, Enguix-Riego MV, Fernández RM, de Agustín JC, Antiñolo G, Borrego S. Luzón-Toro B, et al. PLoS One. 2012;7(5):e36524. doi: 10.1371/journal.pone.0036524. Epub 2012 May 4. PLoS One. 2012. PMID: 22574178 Free PMC article.

8

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.

Fernández RM, Bleda M, Núñez-Torres R, Medina I, Luzón-Toro B, García-Alonso L, Torroglosa A, Marbà M, Enguix-Riego MV, Montaner D, Antiñolo G, Dopazo J, Borrego S. Fernández RM, et al. Orphanet J Rare Dis. 2012 Dec 28;7:103. doi: 10.1186/1750-1172-7-103. Orphanet J Rare Dis. 2012. PMID: 23270508 Free PMC article.

9

Contributions of PHOX2B in the pathogenesis of Hirschsprung disease.

Fernández RM, Mathieu Y, Luzón-Toro B, Núñez-Torres R, González-Meneses A, Antiñolo G, Amiel J, Borrego S. Fernández RM, et al. PLoS One. 2013;8(1):e54043. doi: 10.1371/journal.pone.0054043. Epub 2013 Jan 14. PLoS One. 2013. PMID: 23342068 Free PMC article.

10

CSVS, a crowdsourcing database of the Spanish population genetic variability.

Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B; Spanish Exome Crowdsourcing Consortium; Carracedo Á, Alonso Á, Dopazo J. Peña-Chilet M, et al. Nucleic Acids Res. 2021 Jan 8;49(D1):D1130-D1137. doi: 10.1093/nar/gkaa794. Nucleic Acids Res. 2021. PMID: 32990755 Free PMC article.

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