G. Antiñolo

G. Antiñolo, A. Ontanilla, A. Losada, 2009, International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics.

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

J. Lupski, P. Gouras, P. Sieving, 2005, Human molecular genetics.

Hirschsprung's disease as a model of complex genetic etiology.

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2013, Histology and histopathology.

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

E. Grice, A. McCallion, A. Chakravarti, 2010, American journal of human genetics.

Hirschsprung disease, associated syndromes and genetics: a review

A Chakravarti, G Burzynski, Erasmus Mc, 2001, Journal of Medical Genetics.

Influencers on Thyroid Cancer Onset: Molecular Genetic Basis

S. Borrego, G. Antiñolo, B. Luzón-Toro, 2019, Genes.

A map of human microRNA variation uncovers unexpectedly high levels of variability

Joaquín Dopazo, Ignacio Medina, Eva Alloza, 2012, Genome Medicine.

Epigenetic Mechanisms in Hirschsprung Disease

S. Borrego, G. Antiñolo, B. Luzón-Toro, 2019, International journal of molecular sciences.

Epigenetics in ENS development and Hirschsprung disease.

S. Borrego, G. Antiñolo, R. Hofstra, 2016, Developmental biology.

Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing

C. Méndez-Vidal, S. Borrego, G. Antiñolo, 2018, Scientific Reports.

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

P. Sham, P. Tam, A. Chakravarti, 2017, Genome Biology.

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies

C. Méndez-Vidal, S. Borrego, G. Antiñolo, 2022, npj Genomic Medicine.

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies

C. Méndez-Vidal, S. Borrego, G. Antiñolo, 2022, NPJ genomic medicine.

Identification of a PROM1 mutation in a Spanish family with inherited retinal dystrophies

G. Antiñolo, Nereida Bravo-Gil, M. Jiménez, 2021, The Open Ophthalmology Journal.

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases

C. Méndez-Vidal, S. Borrego, G. Antiñolo, 2017, Scientific Reports.

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa

Francisco J. López-Domingo, Joaquin Dopazo, Salud Borrego, 2013, Molecular vision.

Copy-number variations in EYS: a significant event in the appearance of arRP.

S. Bhattacharya, S. Borrego, G. Antiñolo, 2011, Investigative ophthalmology & visual science.

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

E. Aller, J. Millán, G. Antiñolo, 2010, Investigative ophthalmology & visual science.

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II

E. Aller, J. Millán, G. Antiñolo, 2006, Journal of Medical Genetics.

[Translocation T (1;15) (Q21;P13) in a male with azoospermia].

S. Borrego, G. Antiñolo, J. Sánchez, 1989, Actas urologicas espanolas.

A map of human microRNA variation uncovers unexpectedly high levels of variability

J. Dopazo, I. Medina, J. Jimenez-Almazan, 2012, Genome Medicine.

Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis.

S. Borrego, G. Antiñolo, R. Fernández, 2005, International journal of molecular medicine.

Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease

S. Borrego, G. Antiñolo, B. Luzón-Toro, 2013, PloS one.

Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome

S. Borrego, G. Antiñolo, Nereida Bravo-Gil, 2019, Medicine.

A Novel Point Variant in NTRK3, R645C, Suggests a Role of this Gene in the Pathogenesis of Hirschsprung Disease

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2009, Annals of human genetics.

NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease.

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2008, Journal of pediatric surgery.

Genetic Analysis of FAM46A in Spanish Families with Autosomal Recessive Retinitis Pigmentosa: Characterisation of Novel VNTRs

S. Bhattacharya, S. Borrego, G. Antiñolo, 2007, Annals of human genetics.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Linkage Validation of RP25 Using the 10K GeneChip Array and Further Refinement of the Locus by New Linked Families

S. Bhattacharya, S. Borrego, G. Antiñolo, 2008, Annals of human genetics.

Large‐scale Molecular Analysis of a 34 Mb Interval on Chromosome 6q: Major Refinement of the RP25 Interval

N. Carter, S. Bhattacharya, S. Borrego, 2008, Annals of human genetics.

Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome

G. Antiñolo, L. García-Díaz, P. Carreto, 2012, BMC Pregnancy and Childbirth.

Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease

S. Borrego, G. Antiñolo, B. Luzón-Toro, 2020, International journal of molecular sciences.

Labor induction with dinoprostone or oxytocine and postpartum disseminated intravascular coagulation: a hospital-based case-control study.

G. Antiñolo, F. D. de Abajo, L. G. García Rodríguez, 2004, American journal of obstetrics and gynecology.

Analysis pipeline for the detection of mutations causative of rare diseases on whole exome sequencing data

Francisco J. Lopez, Luis M. Cruz, J. Dopazo, 2013 .

Isolated Absence of Septum Pellucidum: Prenatal Diagnosis and Outcome

G. Antiñolo, L. García-Díaz, A. García-Arreza, 2012, Fetal Diagnosis and Therapy.

Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer.

M. Urioste, S. Borrego, G. Antiñolo, 2006, The Journal of pediatrics.

Diagnosis and management of fetal intrapericardial Morgagni diaphragmatic hernia with massive pericardial effussion.

G. Antiñolo, L. García-Díaz, A. Losada, 2010, Journal of Pediatric Surgery.

Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy

S. Borrego, G. Antiñolo, Javier Sánchez, 2017, Case reports in obstetrics and gynecology.

Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.

J. Millán, G. Antiñolo, M. Baiget, 2007, Investigative ophthalmology & visual science.

Mutation analysis of GABRR1 andGABRR2 in autosomal recessive retinitis pigmentosa (RP25)

S. Borrego, G. Antiñolo, G. Cutting, 2000, Journal of medical genetics.

EXIT procedure in twin pregnancy: a series of three cases from a single center

G. Antiñolo, L. García-Díaz, A. Ontanilla, 2014, BMC Pregnancy and Childbirth.

Familial spastic paraplegia with neuropathy and poikiloderma. A new syndrome?

S. Borrego, G. Antiñolo, M. Rufo, 1992, Clinical genetics.

Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations

S. Borrego, G. Antiñolo, R. Fernández, 2016, American journal of medical genetics. Part A.

Maternal effects induced by oral digoxin during treatment of fetal tachyarrhythmia: Case series and literature review.

G. Antiñolo, L. García-Díaz, Á. Chimenea, 2020, European journal of obstetrics, gynecology, and reproductive biology.

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

S. Borrego, G. Antiñolo, C. Eng, 2000, Journal of medical genetics.

A crowdsourcing database for the copy-number variation of the Spanish population

Jose L. Fernandez-Rueda, Luis Antonio Castaño, J. Dopazo, 2023, Human Genomics.

Giant right atrial aneurysm. Prenatal diagnosis and outcome of a rare congenital abnormality

G. Antiñolo, M. Moreno-de las Heras, L. García-Díaz, 2020, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development

J. Dopazo, S. Borrego, G. Antiñolo, 2021, Clinical Epigenetics.

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

P. Sham, P. Tam, A. Chakravarti, 2016, Human molecular genetics.

The RET functional variant c 587T>C is not associated with susceptibility to sporadic medullary thyroid cancer.

S. Borrego, G. Antiñolo, E. Navarro, 2009, Thyroid : official journal of the American Thyroid Association.

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.

F. Wright, R. Davuluri, S. Borrego, 2003, American journal of human genetics.

Cys 634 mutations in the RET proto‐oncogene in Spanish families affected by MEN 2A

S. Borrego, G. Antiñolo, E. Navarro, 1998, Human mutation.

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

Leo Goodstadt, Amna Z. Shah, Chris P Ponting, 2008, Nature Genetics.

Megalocornea-mental retardation syndrome: an additional case.

S. Borrego, G. Antiñolo, M. Rufo, 1994, American journal of medical genetics.

A Novel Genetic Study of Chinese Families with Autosomal Recessive Retinitis Pigmentosa

S. Bhattacharya, G. Antiñolo, S. Bhattacharya, 2007, Annals of human genetics.

A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients.

S. Borrego, G. Antiñolo, A. Sanchez-Mejias, 2010, Experimental and therapeutic medicine.

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa

Joaquín Dopazo, Javier Santoyo, Montserrat Baiget, 2010, Human mutation.

Spectrofluorimetric analysis of CCR5-delta 32 allele using real-time polymerase chain reaction: prevalence in southern Spanish HIV(+) patients and noninfected population.

S. Borrego, G. Antiñolo, M. Leal, 2001, AIDS research and human retroviruses.

Fluorescence resonance energy transfer analysis of CCR-V64I and SDF1-3'a polymorphisms: prevalence in southern Spain hiv type 1+ cohort and noninfected population.

S. Borrego, G. Antiñolo, J. Royo, 2001, AIDS research and human retroviruses.

The −670A > G polymorphism in the promoter region of the FAS gene is associated with necrosis in periportal areas in patients with chronic hepatitis C

M. Ruíz-Ferrer, G. Antiñolo, J. Aguilar-Reina, 2005, Journal of viral hepatitis.

Retinitis pigmentosa in Spain

G. Antiñolo, D. Valverde, M. Carballo, 1995 .

Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients

S. Borrego, G. Antiñolo, R. Fernández, 2017, BioMed research international.

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

E. Aller, J. Millán, S. Borrego, 2009, Human Genetics.

A novel germline point mutation, c.2304 G-->T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma.

S. Borrego, G. Antiñolo, R. Fernández, 2002, American journal of medical genetics.

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

A. Ciccodicola, M. D'urso, M. Mangino, 1999, European Journal of Human Genetics.

Prenatal management and outcome of junctional ectopic tachycardia and hydrops.

G. Antiñolo, L. García-Díaz, F. Coserria, 2012, Arquivos brasileiros de cardiologia.

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

N. Baena, G. Antiñolo, S. Gökben, 2019, Scientific Reports.

Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome

G. Antiñolo, L. García-Díaz, F. Coserria, 2013, Case reports in obstetrics and gynecology.

CSVS, a crowdsourcing database of the Spanish population genetic variability

Carlos Loucera, Joaquín Dopazo, Aurora Pujol, 2020, Nucleic Acids Res..

Two sets of monozygotic twins after intracytoplasmic sperm injection and transfer of two embryos on day 2.

G. Antiñolo, J. C. García-Lozano, R. Carrillo-Vadillo, 2007, Fertility and sterility.

Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa

S. Borrego, G. Antiñolo, B. Sánchez, 1996, Human mutation.

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, Gábor Csányi, 2017, Scientific Reports.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

Title Exome sequencing reveals a high genetic heterogeneity onfamilial Hirschsprung disease

P. Sham, S. Cherny, J. Dopazo, 2015 .

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

S. Borrego, G. Antiñolo, R. Fernández, 2010, BMC Medical Genetics.

Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients

C. Méndez-Vidal, S. Borrego, G. Antiñolo, 2013, PloS one.

A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa

S. Borrego, G. Antiñolo, B. Sánchez, 1996, Human mutation.

A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters.

S. Borrego, G. Antiñolo, I. Marcos, 1998, American journal of human genetics.

Transplacental Treatment of Fetal Tachyarrhythmia: Current Trends and Future Perspectives

G. Antiñolo, L. García-Díaz, Á. Chimenea, 2023, Future Pharmacology.

Exclusion of Four Candidate Genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as Causative of Autosomal Recessive Retinitis Pigmentosa

S. Bhattacharya, S. Borrego, G. Antiñolo, 2005, Ophthalmic Research.

Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing

S. Borrego, G. Antiñolo, R. Fernández, 2023, International journal of molecular sciences.

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

G. Antiñolo, M. Baiget, I. Hernán, 2006, BMC Medical Genetics.

Co‐segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient

S. Borrego, G. Antiñolo, R. Fernández, 2016, Clinical case reports.

Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study

G. Antiñolo, María González-del Pozo, María José Morillo Sánchez, 2019, Ophthalmic genetics.

EYS is a major gene for rod‐cone dystrophies in France

J. Sahel, S. Bhattacharya, G. Antiñolo, 2010, Human mutation.

G106R rhodopsin mutation is also present in Spanish ADRP patients.

S. Borrego, G. Antiñolo, C. Ayuso, 1996, Ophthalmic genetics.

Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas

J. Dopazo, I. Medina, M. Bleda, 2015, BMC Medical Genomics.

Pathways systematically associated to Hirschsprung’s disease

A. Chakravarti, J. Dopazo, M. Bleda, 2013, Orphanet Journal of Rare Diseases.

Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.

X. Estivill, G. Antiñolo, T. Casals, 1996, Journal of medical genetics.

Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease

S. Borrego, G. Antiñolo, R. Fernández, 2016, Scientific Reports.

Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2)

S. Borrego, G. Antiñolo, M. Baiget, 2000, Ophthalmic genetics.

Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2017, Scientific Reports.

Evaluation of germline sequence variants within the promoter region of RANTES gene in a cohort of women with endometriosis from Spain.

S. Borrego, G. Antiñolo, R. Fernández, 2003, Molecular human reproduction.

Mode of delivery, perinatal outcome and neurodevelopment in uncomplicated monochorionic diamniotic twins: a single-center retrospective cohort study

G. Antiñolo, L. García-Díaz, Á. Chimenea, 2022, BMC Pregnancy and Childbirth.

One-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease.

S. Borrego, G. Antiñolo, J. C. García-Lozano, 2010, Fertility and sterility.

Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant

C. Méndez-Vidal, S. Borrego, G. Antiñolo, 2023, Frontiers in cell and developmental biology.

Hirschsprung disease , associated syndromes and genetics : a review

C. Kashuk, X. Miao, S. Borrego, 2007 .

Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing

C. Méndez-Vidal, S. Borrego, G. Antiñolo, 2018, Scientific Reports.

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I

E. Aller, G. Antiñolo, F. Moreno, 2006, Human mutation.

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

Joaquín Dopazo, Ignacio Medina, David Montaner, 2012, Orphanet Journal of Rare Diseases.

LncRNA LUCAT1 as a novel prognostic biomarker for patients with papillary thyroid cancer

S. Borrego, G. Antiñolo, B. Luzón-Toro, 2019, Scientific Reports.

Cloning, characterization and chromosome mapping of the human SMAP1 gene.

S. Borrego, G. Antiñolo, S. Rodríguez de Córdoba, 2002, Gene.

Two Year Neurodevelopmental Outcome after Fetoscopic Laser Therapy for Twin–Twin Transfusion Syndrome: Comparison with Uncomplicated Monochorionic Diamniotic Twins

G. Antiñolo, L. García-Díaz, Á. Chimenea, 2023, Children.

Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain

S. Borrego, G. Antiñolo, R. Fernández, 2015, BioMed research international.

Somatic and germ‐line mosaicism of deletion 15q11.2–q13 in a mother of dyzigotic twins with Angelman syndrome

S. Borrego, G. Antiñolo, R. Fernández, 2014, American journal of medical genetics. Part A.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

G534E Variant in HABP2 and Nonmedullary Thyroid Cancer.

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2016, Thyroid : official journal of the American Thyroid Association.

Análisis molecular del gen RPE65 en 72 familias españolas con retinitis pigmentaria autosómica recesiva

S. Borrego, G. Antiñolo, M. Baiget, 2001 .

ESR2 Gene and Medullary Thyroid Carcinoma.

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2017, Thyroid.

Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes

X. Estivill, G. Antiñolo, A. Gaona, 1992 .

Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations

S. Borrego, G. Antiñolo, R. Fernández, 2016, American journal of medical genetics. Part A.

Delving into the Role of lncRNAs in Papillary Thyroid Cancer: Upregulation of LINC00887 Promotes Cell Proliferation, Growth and Invasion

S. Borrego, G. Antiñolo, Nereida Bravo-Gil, 2024, International journal of molecular sciences.

Bioinformatics Prediction for Network-Based Integrative Multi-Omics Expression Data Analysis in Hirschsprung Disease

S. Borrego, G. Antiñolo, E. Rojano, 2024, Biomolecules.

Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene

C. Méndez-Vidal, S. Borrego, G. Antiñolo, 2024, Mobile DNA.

Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection

G. Antiñolo, L. García-Díaz, A. M. Calderón, 2022, Congenital anomalies.

Linkage Validation of RP25 Using the 10K GeneChip Array and Further Refinement of the Locus by New Linked Families

S. Borrego, G. Antiñolo, S. Bhattacharya, 2008, Annals of human genetics.

Hirschsprung's disease as a model of complex genetic etiology.

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2013, Histology and histopathology.

Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa.

S. Borrego, G. Antiñolo, I. Barragán, 2005, International journal of molecular medicine.

Maternal and Neonatal Outcomes After Ex-Utero Intrapartum Treatment for Congenital Diaphragmatic Hernia: A Case Series

G. Antiñolo, L. García-Díaz, Á. Chimenea, 2023, European Journal of Pediatric Surgery.