Pieras JI, Muñoz-Cabello B, Borrego S, Marcos I, Sanchez J, Madruga M, Antiñolo G.
Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male.
Brain Dev. 2011 Aug;33(7):608-11.
Ruiz-Ferrer M, Torroglosa A, Luzón-Toro B, Fernández RM, Antiñolo G, Mulligan LM, Borrego S.
Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease.
J Mol Med (Berl). 2011 May;89(5):471-80.
Garcia Planells J, Molano J, Borrego S; Grupo AEGH/CIBERER.
[Recommendations of good practices for the genetic diagnosis of myotonic dystrophy].
Med Clin (Barc). 2011 Mar 19;136(7):303-8.
Pieras JI, Barragán I, Borrego S, Audo I, González-Del Pozo M, Bernal S, Baiget M, Zeitz C, Bhattacharya SS, Antiñolo G.
Copy-Number Variations in EYS: A Significant Event in the Appearance of arRP.
Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5625-31.
Ruiz-Ferrer M, Torroglosa A, Núñez-Torres R, de Agustín JC, Antiñolo G, Borrego S.
Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR.
PLoS One. 2011;6(8):e23475.
González-del Pozo M, Borrego S, Barragán I, Pieras JI, Santoyo J, Matamala N, Naranjo B, Dopazo J, Antiñolo G.
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.
PLoS One. 2011;6(12):e27894.
Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A.
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
Am J Hum Genet. 2010 Jul 9;87(1):60-74.
Peciña A, Lozano Arana MD, García-Lozano JC, Borrego S, Antiñolo G
One-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease.
Fertil Steril. 2010 May 1;93(7):2411-2.
Barragán I, Borrego S, Pieras JI, González-del Pozo M, Santoyo J, Ayuso C, Baiget M, Millan JM, Mena M, El-Aziz MM, Audo I, Zeitz C, Littink KW, Dopazo J, Bhattacharya SS, Antiñolo G.
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Hum Mutat. 2010 Nov;31(11):E1772-800.
Bernal S, Alías L, Barceló MJ, Also-Rallo E, Martínez-Hernández R, Gámez J, Guillén-Navarro E, Rosell J, Hernando I, Rodríguez-Alvarez FJ, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Fuentes-Prior P, Tizzano EF.
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor.
J Med Genet. 2010 Sep;47(9):640-2.
Sánchez-Mejías A, Watanabe Y, M Fernández R, López-Alonso M, Antiñolo G, Bondurand N, Borrego S.
Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.
J Mol Med. 2010 May;88(5):507-14.
Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G, Borrego S.
New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease.
Genet Med. 2010 Jan;12(1):39-43.
Abd El-Aziz MM, O'Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Antiñolo G, Pang CP, Webster AR, Bhattacharya SS.
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4266-72.
Fernández RM, Núñez-Torres R, González-Meneses A, Antiñolo G, Borrego S.
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.
BMC Med Genet. 2010 Sep 22;11:137.
Sánchez-Mejías A, Núñez-Torres R, Fernández RM, Antiñolo G, Borrego S.
Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.
BMC Med Genet. 2010 May 11;11:71.
Pereiro I, Valverde D, Piñeiro-Gallego T, Baiget M, Borrego S, Ayuso C, Searby C, Nishimura D.
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.
Mol Vis. 2010 Feb 1;16:137-43.
Zafra-Gómez A, Luzón-Toro B, Jiménez-Diaz I, Ballesteros O, Navalón A.
Quantification of phenolic antioxidants in rat cerebrospinal fluid by GC-MS after oral administration of compounds.
J Pharm Biomed Anal. 2010 Sep 21;53(1):103-8.
Núñez-Torres R, Fernández RM, López-Alonso M, Antiñolo G, Borrego S
A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique.
BMC medical genetics 2009 ;10():119
Fernández RM, Sánchez-Mejías A, Navarro E, López-Alonso M, Antiñolo G, Borrego S.
The RET functional variant c 587T>C is not associated with susceptibility to sporadic medullary thyroid cancer.
Thyroid. 2009 Sep;19(9):1017-8.
Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G, Borrego S
Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family.
Journal of medical genetics 2009 Dec;46(12):862-4
Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.
Human mutation 2009 May;30(5):771-5
Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E, Peciña A, Antiñolo G, Galán E, Rosa AL, Fernández-Burriel M, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Human genetics 2009 Feb;125(1):29-39
Fernández RM, Sánchez-Mejías A, Mena MD, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S
A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease.
Annals of human genetics 2009 Jan;73(1):19-25
Valverde D, Pereiro I, Vallespín E, Ayuso C, Borrego S, Baiget M
Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.
Investigative ophthalmology & visual science 2009 Mar;50(3):1065-8
Fernández RM, Sánchez-Mejías A, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S
Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?
Mol Med Reports 2009;2: 265-270. FI: Pendiente del ISCR 2009
Rubio de la Torre E, Luzón-Toro B, Forte-Lago I, Minguez-Castellanos A, Ferrer I, Hilfiker S
Combined kinase inhibition modulates parkin inactivation.
Human molecular genetics 2009 Mar;18(5):809-23
Murillo-Carretero M, Torroglosa A, Castro C, Villalobo A, Estrada C
S-Nitrosylation of the epidermal growth factor receptor: a regulatory mechanism of receptor tyrosine kinase activity.
Free radical biology & medicine 2009 Feb;46(4):471-9
Teruel M, Cabrero J, Perfectti F, Acosta MJ, Sánchez A, Camacho JP
Microdissection and chromosome painting of X and B chromosomes in the grasshopper Eyprepocnemis plorans.
Cytogenetic and genome research 2009 ;125(4):286-91
Acosta MJ, Marchal JA, Mitsainas GP, Rovatsos MT, Fernández-Espartero CH, Giagia-Athanasopoulou EB, Sánchez A
A new pericentromeric repeated DNA sequence in Microtus thomasi.
Cytogenetic and genome research 2009 ;124(1):27-36
Teruel M, Cabrero J, Montiel EE, Acosta MJ, Sánchez A, Camacho JP
Microdissection and chromosome painting of X and B chromosomes in Locusta migratoria.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2009 ;17(1):11-8
Fernandez RM, Ruiz-Ferrer M, Lopez-Alonso M, Antiñolo G, Borrego S
Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease.
Journal of pediatric surgery 2008 Nov;43(11):2042-7
Abd El-Aziz MM, Barragan I, O'Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
Nature genetics 2008 Nov;40(11):1285-7
Gamundi MJ, Hernan I, Muntanyola M, Maseras M, López-Romero P, Alvarez R, Dopazo A, Borrego S, Carballo M
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.
Human mutation 2008 Jun;29(6):869-78
Abd El-Aziz MM, Barragan I, O'Driscoll C, Borrego S, Abu-Safieh L, Pieras JI, El-Ashry MF, Prigmore E, Carter N, Antinolo G, Bhattacharya SS
Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
Annals of human genetics 2008 Jul;72(Pt 4):463-77
Barragán I, Abd El-Aziz MM, Borrego S, El-Ashry MF, O'Driscoll C, Bhattacharya SS, Antiñolo G
Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.
Annals of human genetics 2008 Jul;72(Pt 4):454-62
Ruiz-Ferrer M, Fernandez RM, Antiñolo G, Lopez-Alonso M, Borrego S
NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease.
Journal of pediatric surgery 2008 Jul;43(7):1308-11
Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G
Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.
Annals of human genetics 2008 Jan;72(Pt 1):26-34
Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G,
Borrego S,Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G,
de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM,
Fernandez R.
Hirschsprung disease, associated syndromes and genetics: a review.
Journal of medical genetics 2008 Jan;45(1):1-14
Ruiz-Llorente S, Montero-Conde C, Milne RL, Moya CM, Cebrián A, Letón R, Cascón A, Mercadillo F, Landa I, Borrego S, Pérez de Nanclares G, Alvarez-Escolá C, Díaz-Pérez JA, Carracedo A, Urioste M, González-Neira A, Benítez J, Santisteban P, Dopazo J, Ponder BA, Robledo M,
Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma.
Cancer research 2007 Oct;67(19):9561-7
International Consortium on HSCR disease. Fernandez RM, Antiñolo G, Borrego S (Spanish group).
Differential contributions of mutations across the allelic spectrum of RET to multifactorial Hirschsprung disease liability.
Am J Hum Genet, in press
Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G, Borrego S.
Molecular analysis of EDNRB and EDN3 genes in a cohort of Hirschsprung disease patients of Spanish origin.
Genet in Med, en prensa.
Fernández RM, Sánchez-Mejías A, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S.
Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?
Molecular Medicine Reports 2: 265-270, 2009.
