Revista Internacional
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice
Vol: Journal of Translational Medicine Revista InternacionalOncohematology and Genetics
Human Genetics and Reproduction
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice
Vol: Journal of Translational Medicine Revista InternacionalImpact of continuous glucose monitoring on pregnancy outcomes in women with pregestational diabetes
Vol: Acta Diabetol Revista InternacionalA Detailed Exploration of the Ex Utero Intrapartum Treatment Procedure with Center-Specific Advancements
Vol: Surg Tech Dev Revista InternacionalAssessing the impact of pregnancy planning on obstetric and perinatal outcomes in women with pregestational diabetes mellitus
Vol: Diabetes Res Clin Pract Revista InternacionalInsights into neurosonographic indications for prenatal diagnosis of fetal neurological anomalies and cortical development: A systematic review of the literature
Vol: Early Hum Dev Revista InternacionalLong-Term Neurodevelopmental Outcome After Selective Fetoscopic Laser Therapy for Stage I Twin-Twin Transfusion Syndrome
Vol: Clin Pediatr (Phila) Revista InternacionalLong-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene
Vol: Mobile DNA Revista InternacionalA Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification
Martin-Sanchez, M; Bravo-Gil, N; Gonzalez-del Pozo, M; Mendez-Vidal, C; Fernandez-Suarez, E; Rodriguez-de la Rua, E; Borrego, S; Antinolo, G
Vol: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Revista InternacionalArtificial Intelligence in Pregnancy: A Scoping Review
Oprescu, AM; Miro-Amarante, G; Garcia-Diaz, L; Beltran, LM; Rey, VE; Romero-Ternero, M
Vol: IEEE ACCESS Revista InternacionalEx-Utero Intrapartum Treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal masses
Garcia-Diaz, L; Chimenea, A; de Agustin, JC; Pavon, A; Antinolo, G
Vol: BMC PREGNANCY AND CHILDBIRTH Revista InternacionalPrenatal diagnostic techniques and IVF in patients with coagulopathies
Garcia-Lozano, JC; Lozano-Arana, MD
Vol: BLOOD COAGULATION & FIBRINOLYSIS Revista InternacionalUnmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants
Gonzalez-del Pozo, M; Fernandez-Suarez, E; Martin-Sanchez, M; Bravo-Gil, N; Mendez-Vidal, C; Rodriguez-de La Rua, E; Borrego, S; Antinolo, G
Vol: JOURNAL OF TRANSLATIONAL MEDICINE Revista InternacionalEpigenetic Mechanisms in Hirschsprung Disease.
Torroglosa A, Villalba-Benito L, Luzón-Toro B, Fernández RM, Antiñolo G, Borrego S
Vol: Int J Mol Sci. Revista InternacionalExpanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report.
Bravo-Gil N, Marcos I, González-Meneses A, Antiñolo G, Borrego S
Vol: Medicine (Baltimore). Revista InternacionalGiant right atrial aneurysm. Prenatal diagnosis and outcome of a rare congenital abnormality.
Chimenea Á, García-Díaz L, Moreno-De Las Heras M, Coserria F, Antiñolo G
Vol: J Obstet Gynaecol. Revista InternacionalIdentification of new long non-coding RNAs associated with medullary thyroid cancer.
Luzón Toro B, Fernández García RM, Martos Martínez JM, Antiñolo G, Borrego S
Vol: Oral Health and Care Revista InternacionalInfluencers on Thyroid Cancer Onset: Molecular Genetic Basis.
Luzón-Toro B, Fernández RM, Villalba-Benito L, Torroglosa A, Antiñolo G, Borrego S .
Vol: Genes (Basel) Revista InternacionalLncRNA LUCAT1 as a novel prognostic biomarker for patients with papillary thyroid cancer.
Luzón-Toro B, Fernández RM, Martos-Martínez JM, Rubio-Manzanares-Dorado M, Antiñolo G, Borrego S
Vol: Sci Rep. Revista InternacionalNOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Mavillard F, Madruga-Garrido M, Rivas E, Servián-Morilla E, Ávila-Polo R, Marcos I, Morón FJ, Paradas C, Cabrera-Serrano M
Vol: Ann Clin Transl Neurol. Revista InternacionalPosterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.
Morillo Sánchez MJ, Llavero Valero P, González-Del Pozo M, Ponte Zuñiga B, Antiñolo G, Ramos Jiménez M, Rodríguez De La Rúa Franch E
Vol: Ophthalmic Genet. Revista InternacionalWhat are Telling us Genetics, Epigenetics and Environment of an Individual with Thyroid Cancer?
Luzón Toro B, Fernández García RM, Torroglosa A, Villalba Benito L, Antiñolo G, Borrego S
Vol: Annals of Thyroid Research. Revista InternacionalX chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J, Rett Working Group
Vol: Sci Rep Revista InternacionalMLL-rearranged acute myeloid leukemia: Influence of the genetic partner in allo-HSCT response and prognostic factor of MLL 3' region mRNA expression.
Burillo-Sanz S, Morales-Camacho RM, Caballero-Velázquez T, Carrillo E, Sánchez J, Pérez-López O, Pérez de Soto I, González Campos J, Prats-Martín C, Bernal R, Vargas MT.
Vol: Eur J Haematol. Revista InternacionalResolution of maternal Mirror syndrome after succesful fetal intrauterine therapy: a case series.
Chimenea A, García-Díaz L, Calderón AM, Heras MML, Antiñolo G.
Vol: BMC PregnancyChildbirth. Revista InternacionalResults of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation.
Delgado Pecellín I, Pérez Ruiz E, Álvarez Ríos AI, Delgado Pecellín C, Yahyaoui Macías R, Carrasco Hernández L, Marcos Luque I, Caro Aguilera P, Moreno Valera MJ, Quintana Gallego ME.
Vol: Arch Bronconeumol. Revista InternacionalSearching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
. González-Del Pozo M, Martín-Sánchez M, Bravo-Gil N, Méndez-Vidal C, Chimenea Á, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.
Vol: Sci Rep. Revista InternacionalDnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novo methyltransferase is involved in the enteric nervous system development and the onset of Hirschsprung disease.
Torroglosa A, Villalba-Benito L, Fernández RM, Moya-Jiménez MJ, Antiñolo G, Borrego S.
Vol: Oncotarget Revista InternacionalESR2 Gene and Medullary Thyroid Carcinoma.
Ruiz-Ferrer M, Fernández RM, Navarro E, Antiñolo G, Borrego S.
Vol: Thyroid Revista InternacionalMutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
Vieitez I, Gallano P, González-Quereda L, Borrego S, Marcos I, Millán JM, Jairo T, Prior C, Molano J, Trujillo-Tiebas MJ, Gallego-Merlo J, García-Barcina M, Fenollar M, Navarro C.
Vol: Neurologia Revista InternacionalOverexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease.
Villalba-Benito L, Torroglosa A, Fernández RM, Ruíz-Ferrer M, Moya-Jiménez MJ, Antiñolo G, Borrego S.
Vol: Sci Rep Revista InternacionalPreimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients.
Fernández RM, Lozano-Arana MD, Sánchez B, Peciña A, García-Lozano JC, Borrego S, Antiñolo G.
Vol: Biomed Res Int. Revista InternacionalTGA+VSD and Subpulmonary Conus: From Fetus to a 3-dimensional Model
Manso B, García-Díaz L, Valverde I.
Vol: RevEspCardiol (Engl Ed). Revista InternacionalThe utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J, Rett Working Group.
Vol: Sci Rep. Revista InternacionalUltrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy
. Fernández-Perea Y, García-Díaz L, Sánchez J, Antiñolo G, Borrego S.
Vol: Case RepObstetGynecol. Libro o artículoUnravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Bravo-Gil N, González-Del Pozo M, Martín-Sánchez M, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.
Vol: Sci Rep. Revista InternacionalWhole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Gui H, Schriemer D, Cheng WW, Chauhan RK, Antiňolo G, Berrios C, Bleda M, Brooks AS, Brouwer RW, Burns AJ, Cherny SS, Dopazo J, Eggen BJ, Griseri P, Jalloh B, Le TL, Lui VC, Luzón-Toro B, Matera I, Ngan ES, Pelet A, Ruiz-Ferrer M, Sham PC, Shepherd IT, So MT, Sribudiani Y, Tang CS, van den Hout MC, van der Linde HC, van Ham TJ, van IJcken WF, Verheij JB, Amiel J, Borrego S, Ceccherini I, Chakravarti A, Lyonnet S, Tam PK, Garcia-Barceló MM, Hofstra RM.
Vol: Genome Biol. Revista InternacionalAortopulmonary Window with Atrial Septal Defect: Prenatal Diagnosis, Management and Outcome.
Alvarez R, García-Díaz L, Coserria F, Hosseinpour R, Antiñolo G.
Vol: Fetal Diagn Ther. 2011 Feb 18. [Epub ahead of print] Revista InternacionalCopy-Number Variations in EYS: A Significant Event in the Appearance of arRP.
Pieras JI, Barragán I, Borrego S, Audo I, González-Del Pozo M, Bernal S, Baiget M, Zeitz C, Bhattacharya SS, Antiñolo G.
Vol: Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5625-31. Revista InternacionalExpression 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.
Vol: PLoS One. 2011;6(8):e23475. Revista InternacionalMutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.
González-del Pozo M, Borrego S, Barragán I, Pieras JI, Santoyo J, Matamala N, Naranjo B, Dopazo J, Antiñolo G.
Vol: PLoS One. 2011;6(12):e27894. Revista InternacionalNovel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease.
Ruiz-Ferrer M, Torroglosa A, Luzón-Toro B, Fernández RM, Antiñolo G, Mulligan LM, Borrego S.
Vol: J Mol Med (Berl). 2011 May;89(5):471-80. Revista InternacionalSomatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male.
Pieras JI, Muñoz-Cabello B, Borrego S, Marcos I, Sanchez J, Madruga M, Antiñolo G.
Vol: Brain Dev. 2011 Aug;33(7):608-11. Revista InternacionalDiagnosis and management of fetal intrapericardial Morgagni diaphragmatic hernia with massive pericardial effussion.
Antiñolo G, De Agustin JC, Losada A, Marenco ML, Garcia-Diaz L, Morcillo J.
Vol: J Pediatr Surg. 2010 Feb;45(2):424-6. Revista InternacionalDifferential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
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, Borr
Vol: Am J Hum Genet. 2010 Jul 9;87(1):60-74. Revista InternacionalEYS is a major gene for rod-cone dystrophies in France.
Audo I, Sahel JA, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C.
Vol: Hum Mutat. 2010 May;31(5):E1406-35. Revista InternacionalIdentification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
Abd El-Aziz MM, O'Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Antiñolo G, Pang CP, Webster AR, Bhattacharya SS.
Vol: Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4266-72. Revista InternacionalInvolvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.
Sánchez-Mejías A, Watanabe Y, M Fernández R, López-Alonso M, Antiñolo G, Bondurand N, Borrego S.
Vol: J Mol Med. 2010 May;88(5):507-14. Revista InternacionalMicroarray-based mutation analysis of 183 Spanish families suffering from Usher syndrome.
Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernandez A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millan JM.
Vol: Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1311-7. Revista InternacionalMutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
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.
Vol: Hum Mutat. 2010 Nov;31(11):E1772-800. Revista InternacionalNew roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease.
Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G, Borrego S.
Vol: Genet Med. 2010 Jan;12(1):39-43. Revista InternacionalNovel 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.
Vol: BMC Med Genet. 2010 May 11;11:71. Revista InternacionalNovel 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.
Vol: BMC Med Genet. 2010 Sep 22;11:137. Revista InternacionalOne-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease.
Peciña A, Lozano Arana MD, García-Lozano JC, Borrego S, Antiñolo G
Vol: Fertil Steril. 2010 May 1;93(7):2411-2. Revista InternacionalA 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
Vol: Annals of human genetics 2009 Jan;73(1):19-25 Revista InternacionalA 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
Vol: BMC medical genetics 2009 ;10():119 Revista InternacionalComplexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.
Valverde D, Pereiro I, Vallespín E, Ayuso C, Borrego S, Baiget M
Vol: Investigative ophthalmology & visual science 2009 Mar;50(3):1065-8 Revista InternacionalContribution 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
Vol: Journal of medical genetics 2009 Dec;46(12):862-4 Revista InternacionalDiagnosis and management of a large oropharyngeal teratoma (epignathus) in a twin pregnancy.
Antiñolo G, de Agustín JC, Losada A, Ontanilla A, Perla AG
Vol: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2009 Feb;104(2):143-4 Revista InternacionalInteraction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.
Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A
Vol: Human mutation 2009 May;30(5):771-5 Revista InternacionalIs the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?
Fernández RM, Sánchez-Mejías A, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S
Vol: Mol Med Reports 2009;2: 265-270. FI: Pendiente del ISCR 2009 Revista InternacionalIs the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B? (1)
Fernández RM, Sánchez-Mejías A, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S.
Vol: Molecular Medicine Reports 2: 265-270, 2009. Libro o artículoMutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
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
Vol: Human genetics 2009 Feb;125(1):29-39 Revista InternacionalThe RET functional variant c 587T>C is not associated with susceptibility to sporadic medullary thyroid cancer.
Fernández RM, Sánchez-Mejías A, Navarro E, López-Alonso M, Antiñolo G, Borrego S
Vol: Thyroid : official journal of the American Thyroid Association 2009 Sep;19(9):1017-8 Revista InternacionalEYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
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
Vol: Nature genetics 2008 Nov;40(11):1285-7 Revista InternacionalGenetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.
Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G
Vol: Annals of human genetics 2008 Jan;72(Pt 1):26-34 Revista InternacionalHirschsprung disease, associated syndromes and genetics: a review.
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,
Vol: Journal of medical genetics 2008 Jan;45(1):1-14 Revista InternacionalLarge-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
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
Vol: Annals of human genetics 2008 Jul;72(Pt 4):463-77 Revista InternacionalLinkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.
Barragán I, Abd El-Aziz MM, Borrego S, El-Ashry MF, O'Driscoll C, Bhattacharya SS, Antiñolo G
Vol: Annals of human genetics 2008 Jul;72(Pt 4):454-62 Revista InternacionalNTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease.
Ruiz-Ferrer M, Fernandez RM, Antiñolo G, Lopez-Alonso M, Borrego S
Vol: Journal of pediatric surgery 2008 Jul;43(7):1308-11 Revista InternacionalPolymorphisms 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
Vol: Journal of pediatric surgery 2008 Nov;43(11):2042-7 Revista InternacionalProvision and quality assurance of preimplantation genetic diagnosis in Europe.
Corveleyn A, Morris MA, Dequeker E, Sermon K, Davies JL, Antiñolo G, Schmutzler A, Vanecek J, Nagels N, Zika E, Palau F, Ibarreta D
Vol: European journal of human genetics : EJHG 2008 Mar;16(3):290-9 Revista InternacionalSpanish stem cell bank interviews examine the interest of couples in donating surplus human IVF embryos for stem cell research.
Cortes JL, Antiñolo G, Martínez L, Cobo F, Barnie A, Zapata A, Menendez P
Vol: Cell stem cell 2007 Jun;1(1):17-20 Revista InternacionalA novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa.
Abd El-Aziz MM, El-Ashry MF, Chan WM, Chong KL, Barragan I, Antiñolo G, Pang CP, Bhattacharya SS
Vol: Annals of human genetics 2007 May;71(Pt 3):281-94 Revista InternacionalAnalysis of the -844C > T polymorphism in the promoter region of FASLgene in a cohort of Spanish HCV patients.
Ruiz-Ferrer M, Antiñolo G, Aguilar-Reina J
Vol: Journal of viral hepatitis 2007 Apr;14(4):293-4 Revista InternacionalSpectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.
Valverde D, Riveiro-Alvarez R, Aguirre-Lamban J, Baiget M, Carballo M, Antiñolo G, Millán JM, Garcia Sandoval B, Ayuso C
Vol: Investigative ophthalmology & visual science 2007 Mar;48(3):985-90 Revista InternacionalTwo sets of monozygotic twins after intracytoplasmic sperm injection and transfer of two embryos on day 2.
Carrillo-Vadillo R, García-Lozano JC, Lozano Arana MD, Moliní Rivera JL, Sánchez Martín P, Antiñolo G
Vol: Fertility and sterility 2007 Dec;88(6):1676.e3-5 Revista InternacionalA 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
Vol: Genetics in medicine : official journal of the American College of Medical Genetics 2006 Nov;8(11):704-10 Revista InternacionalAnalysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma.
Fernández RM, Peciña A, Antiñolo G, Navarro E, Borrego S
Vol: Thyroid : official journal of the American Thyroid Association 2006 Apr;16(4):411-7 Revista InternacionalEvaluation of the role of RET polymorphisms/haplotypes as modifier loci for MEN 2, and analysis of the correlation with the type of RET mutation in a series of Spanish patients.
Fernández RM, Navarro E, Antiñolo G, Ruiz-Ferrer M, Borrego S
Vol: International journal of molecular medicine 2006 Apr;17(4):575-81 Revista InternacionalIdentification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
Aller E, Jaijo T, Beneyto M, Nájera C, Oltra S, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Collado D, Pérez-Garrigues H, Navea A, Millán JM
Vol: Journal of medical genetics 2006 Nov;43(11):e55 Revista InternacionalMutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millán JM
Vol: Human mutation 2006 Mar;27(3):290-1 Revista InternacionalMutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer.
Marcos I, Borrego S, Urioste M, García-Vallés C, Antiñolo G
Vol: The Journal of pediatrics 2006 Jun;148(6):837-9 Revista InternacionalThree novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
Gamundi MJ, Hernan I, Martínez-Gimeno M, Maseras M, García-Sandoval B, Ayuso C, Antiñolo G, Baiget M, Carballo M
Vol: BMC medical genetics 2006 ;7():35 Revista InternacionalAncestral 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
Vol: Journal of medical genetics 2005 Apr;42(4):322-7 Revista InternacionalExclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa.
Abd El-Aziz MM, Patel RJ, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS
Vol: Ophthalmic research 2006 ;38(1):19-23 Revista InternacionalMolecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa.
Barragan I, Marcos I, Borrego S, Antiñolo G
Vol: Ophthalmic research ;37(2):89-93 Revista InternacionalMolecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
Abd El-Aziz MM, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS
Vol: Current eye research 2005 Dec;30(12):1081-7 Revista InternacionalMutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa.
Barragan I, Marcos I, Borrego S, Antiñolo G
Vol: International journal of molecular medicine 2005 Dec;16(6):1163-7 Revista InternacionalPolymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis.
Fernández RM, Noval JA, García-Lozano JC, Borrego S, Moliní JL, Antiñolo G
Vol: International journal of molecular medicine 2005 May;15(5):865-9 Revista InternacionalRetinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A
Vol: Human molecular genetics 2005 Dec;14(24):3865-75 Revista InternacionalSequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
Gamundi MJ, Hernan I, Maseras M, Baiget M, Ayuso C, Borrego S, Antiñolo G, Millán JM, Valverde D, Carballo M
Vol: Molecular vision 2005 ;11():922-8 Revista InternacionalSpanish family with myalgia and cramps syndrome.
Sánchez-Arjona MB, Rodríguez-Uranga JJ, Giles-Lima M, Fernández-García R, Chinchón-Lara I, Antiñolo G, Bautista-Lorite J
Vol: Journal of neurology, neurosurgery, and psychiatry 2005 Feb;76(2):286-9 Revista InternacionalThe -670A > G polymorphism in the promoter region of the FAS gene is associated with necrosis in periportal areas in patients with chronic hepatitis C.
Aguilar-Reina J, Ruiz-Ferrer M, Pizarro MA, Antiñolo G
Vol: Journal of viral hepatitis 2005 Nov;12(6):568-73 Revista InternacionalAnalysis of CCR5-Delta 32 and CCR2-V64I polymorphisms in a cohort of Spanish HCV patients using real-time polymerase chain reaction and fluorescence resonance energy transfer technologies.
Ruiz-Ferrer M, Barroso N, Antiñolo G, Aguilar-Reina J
Vol: Journal of viral hepatitis 2004 Jul;11(4):319-23 Revista InternacionalAnalysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the development of endometriosis.
Antiñolo G, Fernández RM, Noval JA, Moliní JL, Borrego S
Vol: Molecular human reproduction 2004 Mar;10(3):155-7 Revista InternacionalLabor induction with dinoprostone or oxytocine and postpartum disseminated intravascular coagulation: a hospital-based case-control study.
De Abajo FJ, Meseguer CM, Antiñolo G, García Rodríguez LA, Montero D, Castillo JR, Torelló J
Vol: American journal of obstetrics and gynecology 2004 Nov;191(5):1637-43 Revista InternacionalThe RET IVS1-126G>T variant is strongly associated with the development of sporadic medullary thyroid cancer.
Fernandez RM, Robledo M, Antinolo G, Pecina A, Ruiz-Llorente S, Eng C, Borrego S
Vol: Thyroid : official journal of the American Thyroid Association 2004 Apr;14(4):329-31 Revista InternacionalEvaluation of germline sequence variants within the promoter region of RANTES gene in a cohort of women with endometriosis from Spain.
Antiñolo G, Fernández RM, Noval JA, García-Lozano JC, Borrego S, Marcos I, Moliní JL
Vol: Molecular human reproduction 2003 Aug;9(8):491-5 Revista InternacionalFluorescence resonance energy transfer analysis of the RANTES polymorphisms -403G --> A and -28G --> C: evaluation of both variants as susceptibility factors to HIV type 1 infection in the Spanish population.
Fernández RM, Borrego S, Marcos I, Rubio A, Lissen E, Antiñolo G
Vol: AIDS research and human retroviruses 2003 May;19(5):349-52 Revista InternacionalInvestigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease.
Borrego S, Fernández RM, Dziema H, Niess A, López-Alonso M, Antiñolo G, Eng C
Vol: Journal of medical genetics 2003 Mar;40(3):e18 Revista InternacionalMolecular cloning and characterization of human RAB23, a member of the group of Rab GTPases.
Marcos I, Borrego S, Antiñolo G
Vol: International journal of molecular medicine 2003 Dec;12(6):983-7 Revista InternacionalMutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
Bernal S, Ayuso C, Antiñolo G, Gimenez A, Borrego S, Trujillo MJ, Marcos I, Calaf M, Del Rio E, Baiget M
Vol: Journal of medical genetics 2003 Jan;40(1):e8 Revista InternacionalMutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M
Vol: Investigative ophthalmology & visual science 2003 May;44(5):2171-7 Revista InternacionalThe RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes.
Fernández RM, Antiñolo G, Eng C, Borrego S
Vol: Human mutation 2003 Nov;22(5):412-5 Revista InternacionalA 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
Vol: American journal of human genetics 2003 Jan;72(1):88-100 Revista Internacional