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GENETICA MEDICA - Prisma - Unidad de Bibliometría

GENETICA MEDICA EN CIENCIAS DE LA SALUD - CTS-106 (GENETICA MEDICA)

Tipo de colectivo: Grupo de investigación
Estado: Grupo definitivo
Ámbito: Andalucía
Instituciones: Sistema Sanitario Público de Andalucía. Fundación Pública Andaluza para la Gestión de la Investigación en Salud de Sevilla (FISEVI)
Fecha de creación: 01/01/1995

Investiga en

Palabras clave
Líneas de investigación
Resumen
Nombre Rol
Antiñolo Gil, Guillermo Investigador principal
Garcia Diaz, Lutgardo Miembro
Tipo Año Título Fuente
Artículo2024 Assessing the impact of pregnancy planning on obstetric and perinatal outcomes in women with pregestational diabetes mellitus Diabetes Research and Clinical Practice
Artículo2024 Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis Ophthalmic Genetics
Artículo2024 Bioinformatics prediction for network-based integrative multi-omics expression data analysis in hirschsprung disease BIOMOLECULES
Artículo2024 Delving into the Role of lncRNAs in Papillary Thyroid Cancer: Upregulation of LINC00887 Promotes Cell Proliferation, Growth and Invasion INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Letter2024 Exploring the potential of artificial intelligence language models in obstetrics with a focus on fetal medicine: an evaluation of the perplexity AI model FETAL DIAGNOSIS AND THERAPY
Revisión2024 Insights into neurosonographic indicators for prenatal diagnosis of fetal neurological anomalies and cortical development: A systematic review of the literature EARLY HUMAN DEVELOPMENT
Artículo2024 Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene Mobile DNA
Artículo2024 Long-Term Neurodevelopmental Outcome After Selective Fetoscopic Laser Therapy for Stage I Twin-Twin Transfusion Syndrome Clinical Pediatrics
Artículo2024 Magnetic resonance imaging of foetal cerebral ventriculomegaly RADIOLOGIA
Artículo2024 Maternal and Neonatal Outcomes After Ex-Utero Intrapartum Treatment for Congenital Diaphragmatic Hernia: A Case Series EUROPEAN JOURNAL OF PEDIATRIC SURGERY
Letter2024 Perinatal palliative care: from fetal to neonatal life BMJ SUPPORTIVE & PALLIATIVE CARE
Artículo2023 A crowdsourcing database for the copy-number variation of the Spanish population Human Genomics
Artículo2023 Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
Artículo2023 Identification of novel candidate genes for familial thyroid cancer by whole exome sequencing INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Artículo2023 Maternal and obstetric outcomes after Ex-Utero Intrapartum Treatment (EXIT): a single center experience BMC PREGNANCY AND CHILDBIRTH
Artículo2023 Prenatal diagnosis of VACTERL association after early-first trimester SARS-COV-2 infection. Congenital anomalies
Artículo2023 Prenatal ultrasound, magnetic resonance imaging and therapeutic options for fetal thoracic anomalies: a pictorial essay. Pediatric Radiology
Artículo2023 Seguimiento del asma durante el embarazo, influencia en las semanas de gestación del parto Revista Española de Patología Torácica
Artículo2023 Survey about the current use of fetal MRI in Spain RADIOLOGIA
Artículo2023 Two Year Neurodevelopmental Outcome after Fetoscopic Laser Therapy for Twin-Twin Transfusion Syndrome: Comparison with Uncomplicated Monochorionic Diamniotic Twins CHILDREN-BASEL
Artículo2022 A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies NPJ GENOMIC MEDICINE
Capítulo2022 A review of Towards a data collection methodologyfor Responsible Artificial Intelligence in health: A prospective and qualitative study in pregnancy Investigación en Ciberseguridad Actas de las VII Jornadas Nacionales (7º.2022.Bilbao)
Otros2022 Capilla de hospital Estación Poesía
Revisión2022 CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative CLINICAL GENETICS
Artículo2022 Listeriosis outbreak caused by contaminated stuffed pork, Andalusia, Spain, July to October 2019 EUROSURVEILLANCE
Artículo2022 Machine learning to predict pre-eclampsia and intrauterine growth restriction in pregnant women ELECTRONICS
Artículo2022 Mode of delivery, perinatal outcome and neurodevelopment in uncomplicated monochorionic diamniotic twins: a single-center retrospective cohort study. BMC PREGNANCY AND CHILDBIRTH
Artículo2022 Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient EUROPEAN JOURNAL OF OPHTHALMOLOGY
Artículo2022 Towards a data collection methodology for responsible artificial intelligence in health: a prospective and qualitative study in pregnancy INFORMATION FUSION
Ponencia2021 Aprendizaje práctico de estudiantes de Medicina en entornos clínicos: elaboración de un plan formativo en la consulta de medicina fetal Actas del III Congreso Internacional de Innovación Docente e Investigación en Educación Superior: cambios en el proceso de enseñanza-aprendizaje de las Áreas del Conocimiento. 15, 16, 17, 18, 19 y 20 de noviembre de 2021
Corrección2021 Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y) Scientific reports
Corrección2021 Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome Scientific reports
Artículo2021 CSVS, a crowdsourcing database of the Spanish population genetic variability NUCLEIC ACIDS RESEARCH
Artículo2021 Diagnóstico prenatal de atresia de yeyuno con ecografía 3D con reconstrucción en superficie (HDlive): reporte de caso y revisión de la literatura Revista Colombiana de Obstetricia y Ginecologia
Ponencia2021 Empatía y comunicación: hacia un aprendizaje de herramientas clave para médicos Actas del III Congreso Internacional de Innovación Docente e Investigación en Educación Superior: cambios en el proceso de enseñanza-aprendizaje de las Áreas del Conocimiento. 15, 16, 17, 18, 19 y 20 de noviembre de 2021
Artículo2021 Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications Scientific reports
Artículo2021 Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development Clinical Epigenetics
Artículo2021 Identification of a PROM1 mutation in a Spanish family with inherited retinal dystrophies Open Ophthalmology Journal
Ponencia2021 La docencia universitaria de Obstetricia y Ginecología en tiempos de pandemia: retos, oportunidades y cambios para el futuro Actas del III Congreso Internacional de Innovación Docente e Investigación en Educación Superior: cambios en el proceso de enseñanza-aprendizaje de las Áreas del Conocimiento. 15, 16, 17, 18, 19 y 20 de noviembre de 2021
Capítulo2021 La docencia universitaria de obstetricia y ginecología en tiempos de pandemia: Retos, oportunidades y cambios para el futuro Innovación docente e investigación en ciencias de la salud: nuevos enfoques en la metodología docente
Ponencia2021 La importancia de la simulación clínica en la enseñanza y adquisición de competencias en reproducción humana asistida Actas del III Congreso Internacional de Innovación Docente e Investigación en Educación Superior: cambios en el proceso de enseñanza-aprendizaje de las Áreas del Conocimiento. 15, 16, 17, 18, 19 y 20 de noviembre de 2021
Capítulo2021 La importancia de la simulación clínica en la enseñanza y adquisición de competencias en reproducción humana asistida Innovación docente e investigación en ciencias de la salud: nuevos enfoques en la metodología docente
Artículo2021 Maternal effects induced by oral digoxin during treatment of fetal tachyarrhythmia: case series and literature review EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
Letter2021 RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer ORPHANET JOURNAL OF RARE DISEASES
Capítulo2021 Serious Games y su aplicación en la enseñanza sanitaria en obstetricia Innovación docente e investigación en ciencias de la salud: nuevos enfoques en la metodología docente
Ponencia2021 Serius Games y su aplicación en la enseñanza sanitaria en Obstericia Actas del III Congreso Internacional de Innovación Docente e Investigación en Educación Superior: cambios en el proceso de enseñanza-aprendizaje de las Áreas del Conocimiento. 15, 16, 17, 18, 19 y 20 de noviembre de 2021
Ponencia2021 Simulación en habilidades obstétricas: un nuevo modelo de aprendizaje Actas del III Congreso Internacional de Innovación Docente e Investigación en Educación Superior: cambios en el proceso de enseñanza-aprendizaje de las Áreas del Conocimiento. 15, 16, 17, 18, 19 y 20 de noviembre de 2021
Capítulo2021 Simulación en habilidades obstétricas: Un nuevo modelo de aprendizaje Innovación docente e investigación en ciencias de la salud: nuevos enfoques en la metodología docente
Artículo2021 Unusual clinical phenotype of Stargardt disease Arquivos Brasileiros de Oftalmologia
Otros2020 16 de mayo de 1920 Estación Poesía
Artículo2020 A multi-strategy sequencing workflow in inherited retinal dystrophies: routine diagnosis, addressing unsolved cases and candidate genes identification INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Artículo2020 Artificial intelligence in pregnancy: a scoping review IEEE ACCESS
Artículo2020 ChIP-seq-based approach in mouse enteric precursor cells reveals new potential genes with a role in enteric nervous system development and hirschsprung disease INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Libro2020 El caudal infinito El caudal infinito
Artículo2020 Ex-Utero Intrapartum Treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal masses BMC PREGNANCY AND CHILDBIRTH
Artículo2020 Giant right atrial aneurysm. Prenatal diagnosis and outcome of a rare congenital abnormality JOURNAL OF OBSTETRICS AND GYNAECOLOGY
Artículo2020 Identification of new potential lncRNA biomarkers in Hirschsprung disease INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Artículo2020 Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants JOURNAL OF TRANSLATIONAL MEDICINE
Revisión2020 What is new about the genetic background of Hirschsprung disease? CLINICAL GENETICS
Revisión2019 Epigenetic mechanisms in hirschsprung disease INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Artículo2019 Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report MEDICINE
Revisión2019 Influencers on thyroid cancer onset: Molecular genetic basis GENES
Artículo2019 LncRNA LUCAT1 as a novel prognostic biomarker for patients with papillary thyroid cancer Scientific reports
Letter2019 Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study Ophthalmic Genetics
Otros2019 Terapia fetal Portal De Realidad Extendida de la Universidad de Sevilla
Otros2019 Terapia fetal 2: transfusión intrauterina Portal De Realidad Extendida de la Universidad de Sevilla
Artículo2019 X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients Scientific reports
Otros2018 El tren de la tristeza Estación Poesía
Artículo2018 Resolution of maternal Mirror syndrome after succesful fetal intrauterine therapy: a case series BMC PREGNANCY AND CHILDBIRTH
Artículo2018 Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing Scientific reports
Artículo2017 Dnmt3b 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 ONCOTARGET
Letter2017 ESR2 Gene and Medullary Thyroid Carcinoma THYROID
Libro2017 La llave misteriosa La llave misteriosa
Otros2017 Los fragmentos de la dicha Estación Poesía
Artículo2017 Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease Scientific reports
Artículo2017 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 BIOMED RESEARCH INTERNATIONAL
Editorial2017 TGA plus VSD and Subpulmonary Conus: From Fetus to a 3-dimensional Model Revista Española de Cardiología
Artículo2017 TGA+VSD and Subpulmonary Conus: From Fetus to a 3-dimensional Model Revista Española de Cardiología
Artículo2017 The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome Scientific reports
Artículo2017 Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy Case Reports in Obstetrics and Gynecology
Artículo2017 Unravelling the genetic basis of simplex Retinitis Pigmentosa cases Scientific reports
Artículo2017 Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes GENOME BIOLOGY
Artículo2016 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation MOLECULAR BIOLOGY AND EVOLUTION
Artículo2016 Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient CLINICAL CASE REPORTS
Editorial2016 Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder STEM CELL RESEARCH
Artículo2016 Epigenetics in ENS development and Hirschsprung disease DEVELOPMENTAL BIOLOGY
Letter2016 G534E Variant in HABP2 and Nonmedullary Thyroid Cancer THYROID
Artículo2016 Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease Scientific reports
Artículo2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel Scientific reports
Artículo2016 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 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Artículo2016 Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease HUMAN MOLECULAR GENETICS
Artículo2015 Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain BIOMED RESEARCH INTERNATIONAL
Otros2015 Con el arco y la lira Estación Poesía
Artículo2015 Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease Scientific reports
Artículo2015 Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocio in Spain: Technical and Clinical Overview BIOMED RESEARCH INTERNATIONAL
Artículo2015 Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas BMC MEDICAL GENOMICS
Artículo2015 Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders MOLECULAR AUTISM
Corrección2015 Large-scale Molecular Analysis of a 34 Mb Interval on Chromosome 6q: Major Refinement of the RP25 Interval (vol 72, pg 463, 2008) ANNALS OF HUMAN GENETICS
Libro2015 Lugar de lo sagrado Lugar de lo sagrado
Artículo2015 Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients BMC MEDICAL GENETICS
Artículo2015 Re-Evaluation Casts Doubt on the Pathogenicity of Homozygous USH2A p.C759F AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Artículo2014 Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13. Case Reports in Genetics
Artículo2014 Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family MOLECULAR GENETICS & GENOMIC MEDICINE
Artículo2014 EXIT procedure in twin pregnancy: a series of three cases from a single center BMC PREGNANCY AND CHILDBIRTH
Artículo2014 Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies PLOS ONE
Artículo2014 Experience of Preimplantation Genetic Diagnosis with HLA Matching at the University Hospital Virgen del Rocio in Spain: Technical and Clinical Overview BIOMED RESEARCH INTERNATIONAL
Artículo2014 Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system GENETICS IN MEDICINE
Libro2014 La viña perdida La viña perdida
Resumen congreso2014 Management of fetal pain during invasive fetal procedures. Lessons learned from a sentinel event EUROPEAN JOURNAL OF ANAESTHESIOLOGY
Artículo2014 Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree BMC GENETICS
Artículo2014 Somatic and Germ-Line Mosaicism of Deletion 15q11.2-q13 in a Mother of Dyzigotic Twins With Angelman Syndrome AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Artículo2014 The role of the interactome in the maintenance of deleterious variability in human populations MOLECULAR SYSTEMS BIOLOGY
Capítulo2014 Utilidad del Doppler en la valoración del feto con hidrops y en la anemia fetal El Doppler en obstetricia
Artículo2014 Waardenburg Syndrome Type 4: Report of Two New Cases Caused by SOX10 Mutations in Spain AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Artículo2013 Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model DEVELOPMENTAL BIOLOGY
Artículo2013 Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease PLOS ONE
Artículo2013 Corrección intrauterina de mielomeningocele: Experiencia del programa de medicina y terapia fetal del Hospital Universitario Virgen del Rocío REVISTA ESPANOLA DE ANESTESIOLOGIA Y REANIMACION
Revisión2013 Hirschsprung's disease as a model of complex genetic etiology HISTOLOGY AND HISTOPATHOLOGY
Artículo2013 Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome Case Reports in Obstetrics and Gynecology
Artículo2013 Isolated Absence of Septum Pellucidum: Prenatal Diagnosis and Outcome FETAL DIAGNOSIS AND THERAPY
Artículo2013 Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients PLOS ONE
Artículo2013 Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of beta-Thalassemia BIOMED RESEARCH INTERNATIONAL
Artículo2013 Pathways systematically associated to Hirschsprung's disease ORPHANET JOURNAL OF RARE DISEASES
Artículo2013 Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa MOLECULAR VISION
Artículo2012 A map of human microRNA variation uncovers unexpectedly high levels of variability GENOME MEDICINE
Artículo2012 Association of X-Linked Hydrocephalus and Hirschsprung Disease: Report of a New Patient With a Mutation in the L1CAM Gene AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Artículo2012 Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients PLOS ONE
Artículo2012 Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease ORPHANET JOURNAL OF RARE DISEASES
Artículo2012 Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14 Case Reports in Genetics
Artículo2012 Prenatal Management and Outcome of Junctional Ectopic Tachycardia and Hydrops ARQUIVOS BRASILEIROS DE CARDIOLOGIA
Artículo2012 Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome BMC PREGNANCY AND CHILDBIRTH
Artículo2011 Aortopulmonary Window with Atrial Septal Defect: Prenatal Diagnosis, Management and Outcome FETAL DIAGNOSIS AND THERAPY
Artículo2011 Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events BMC MEDICAL GENETICS
Artículo2011 Copy-Number Variations in EYS: A Significant Event in the Appearance of arRP INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Artículo2011 Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR PLOS ONE
Artículo2011 Hemimegalencephaly: Prenatal Diagnosis and Outcome FETAL DIAGNOSIS AND THERAPY
Artículo2011 Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing PLOS ONE
Artículo2011 Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease JOURNAL OF MOLECULAR MEDICINE-JMM
Artículo2011 Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male BRAIN & DEVELOPMENT
Artículo2010 A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients EXPERIMENTAL AND THERAPEUTIC MEDICINE
Artículo2010 Diagnosis and management of fetal intrapericardial Morgagni diaphragmatic hernia with massive pericardial effussion JOURNAL OF PEDIATRIC SURGERY
Artículo2010 Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability AMERICAN JOURNAL OF HUMAN GENETICS
Artículo2010 EYS Is a Major Gene for Rod-cone Dystrophies in France HUMAN MUTATION
Artículo2010 Identification of Novel Mutations in the Ortholog of Drosophila Eyes Shut Gene (EYS) Causing Autosomal Recessive Retinitis Pigmentosa INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Artículo2010 Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient JOURNAL OF MOLECULAR MEDICINE-JMM
Artículo2010 Microarray-Based Mutation Analysis of 183 Spanish Families with Usher Syndrome INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Artículo2010 Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa HUMAN MUTATION
Artículo2010 New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease GENETICS IN MEDICINE
Artículo2010 Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region BMC MEDICAL GENETICS
Artículo2010 Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease BMC MEDICAL GENETICS
Artículo2010 One-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease FERTILITY AND STERILITY
Artículo2010 Utilidad del diagnóstico genético preimplantatorio en enfermedades raras y otras enfermedades genéticas: [Conferencia] Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria
Artículo2009 A Novel Point Variant in NTRK3, R645C, Suggests a Role of this Gene in the Pathogenesis of Hirschsprung Disease ANNALS OF HUMAN GENETICS
Artículo2009 A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique BMC MEDICAL GENETICS
Artículo2009 Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family JOURNAL OF MEDICAL GENETICS
Artículo2009 Diagnosis and management of a large oropharyngeal teratoma (epignathus) in a twin pregnancy INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
Capítulo2009 Diagnóstico genético preimplantatorio Actualizaciones en trasplantes 2009
Artículo2009 Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B? MOLECULAR MEDICINE REPORTS
Artículo2009 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
Letter2009 The RET Functional Variant c*587T > C Is Not Associated with Susceptibility to Sporadic Medullary Thyroid Cancer THYROID
Artículo2008 EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa NATURE GENETICS
Artículo2008 Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: Characterisation of novel VNTRs ANNALS OF HUMAN GENETICS
Revisión2008 Hirschsprung disease, associated syndromes and genetics: a review JOURNAL OF MEDICAL GENETICS
Artículo2008 Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: Major refinement of the RP25 interval ANNALS OF HUMAN GENETICS
Artículo2008 Linkage validation of RP25 using the 10K GeneChip array and further refinement of the locus by new linked families ANNALS OF HUMAN GENETICS
Artículo2008 NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease JOURNAL OF PEDIATRIC SURGERY
Ponencia2008 Ntrk3, a gene involved in the enteric nervous system development, is related to hirschsprung disease European Journal of Human Genetics
Artículo2008 Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease JOURNAL OF PEDIATRIC SURGERY
Artículo2008 Principales enfermedades raras de causa genética Jano: Medicina y Humanidades
Artículo2008 Provision and quality assurance of preimplantation genetic diagnosis in Europe European Journal of Human Genetics
Artículo2007 A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa ANNALS OF HUMAN GENETICS
Letter2007 Analysis of the -844C > T polymorphism in the promoter region of FASL gene in a cohort of Spanish HCV patients JOURNAL OF VIRAL HEPATITIS
Artículo2007 IVF-ICSI register. Unidad Clínica de Genética y Reproduccón, HH.UU. Virgen del Rocío. Sevilla. 1998-2005 Revista Iberoamericana de Fertilidad y Reproducción Humana
Letter2007 Spanish Stem Cell Bank Interviews Examine the Interest of Couples in Donating Surplus Human IVF Embryos for Stem Cell Research Cell Stem Cell
Artículo2007 Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Artículo2007 Two sets of monozygotic twins after intracytoplasmic sperm injection and transfer of two embryos on day 2 FERTILITY AND STERILITY
Artículo2006 A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes GENETICS IN MEDICINE
Artículo2006 Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma THYROID
Artículo2006 Evaluation 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 INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
Artículo2006 Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa OPHTHALMIC RESEARCH
Artículo2006 Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II JOURNAL OF MEDICAL GENETICS
Artículo2006 Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. HUMAN MUTATION
Artículo2006 MUTATIONS IN THE DNA MISMATCH REPAIR GENE MLH1 ASSOCIATED WITH EARLY-ONSET COLON CANCER JOURNAL OF PEDIATRICS
Corrección2006 Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle (vol 14, pg 3865, 2005) HUMAN MOLECULAR GENETICS
Artículo2006 Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population BMC MEDICAL GENETICS
Artículo2005 Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at-1249 JOURNAL OF MEDICAL GENETICS
Artículo2005 Diagnóstico prenatal de estenosis aórtica crítica y fibroelastosis endocárdica Progresos de Obstetricia y Ginecología
Artículo2005 Molecular analysis of RIM1 in autosomal recessive retinitis pigmentosa OPHTHALMIC RESEARCH
Artículo2005 Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus CURRENT EYE RESEARCH
Artículo2005 Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa. INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
Artículo2005 Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis. INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
Artículo2005 Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle HUMAN MOLECULAR GENETICS
Artículo2005 Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration MOLECULAR VISION
Artículo2005 Spanish family with myalgia and cramps syndrome JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Artículo2005 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 JOURNAL OF VIRAL HEPATITIS
Artículo2005 Utilidad de la genética para el obstetra Progresos en Diagnostico y Tratamiento Prenatal
Artículo2004 ANÁLISIS DE 18 PACIENTES DIAGNOSTICADOS DE DISTROFIA MUSCULAR TIPO BECKER REVISTA DE NEUROLOGIA
Artículo2004 Analysis of 18 cases of Becker muscular dystrophy REVISTA DE NEUROLOGIA
Artículo2004 Analysis 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 JOURNAL OF VIRAL HEPATITIS
Artículo2004 Analysis of the involvement of CCR5-Delta 32 and CCR2-V64I variants in the development of endometriosis MOLECULAR HUMAN REPRODUCTION
Ponencia2004 Developments in ultrasound serum markers for chromosomal abnormalities Ciencia Ginecologika
Artículo2004 Diagnóstico prenatal de estenosis aórtica crítica y fibroelastosis endocárdica Progresos en Diagnostico y Tratamiento Prenatal
Artículo2004 Labor induction with dinoprostone or oxytocine and postpartum disseminated intravascular coagulation: A hospital-based case-control study AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
Letter2004 The RET IVS1-126G > T variant is strongly associated with the development of sporadic medullary thyroid cancer THYROID
Artículo2003 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 AMERICAN JOURNAL OF HUMAN GENETICS
Artículo2003 DIAGNÓSTICO PRENATAL DE ANEURISMA SUBVALVULAR DE VENTRÍCULO IZQUIERDO Progresos de Obstetricia y Ginecología
Artículo2003 Diagnóstico prenatal temprano de síndrome de regresión caudal asociado con diabetes mellitus Progresos de Obstetricia y Ginecología
Artículo2003 Evaluation of germline sequence variants within the promoter region of RANTES gene in a cohort of women with endometriosis from Spain MOLECULAR HUMAN REPRODUCTION
Artículo2003 Fluorescence 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 AIDS RESEARCH AND HUMAN RETROVIRUSES
Letter2003 Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease. JOURNAL OF MEDICAL GENETICS
Artículo2003 Molecular cloning and characterization of human RAB23, a member of the group of Rab GTPases INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
Artículo2003 Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Artículo2003 Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. JOURNAL OF MEDICAL GENETICS
Letter2003 The RET C620S mutation causes multiple endocrine neoplaslia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes HUMAN MUTATION
Letter2002 A novel germline point mutation, c.2304 G -> T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma AMERICAN JOURNAL OF MEDICAL GENETICS
Artículo2002 Cloning, characterization and chromosome mapping of the human SMAP1 gene GENE
Artículo2002 Cloning, characterization, and chromosome mapping of the human GlcAT-S gene JOURNAL OF HUMAN GENETICS
Artículo2002 Desde la dismorfología hacia la genética REVISTA DE NEUROLOGIA
Artículo2002 Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer THYROID
Resumen congreso2002 Role of CCR2-V64I and CCR5 Delta 32 polymorphisms in the histological damage and progression rate of hepatitis C virus infection. HEPATOLOGY
Artículo2001 Análisis molecular del gen RPE65 en 72 familias españolas con retinitis pigmentaria autosómica recesiva MEDICINA CLINICA
Letter2001 Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus JOURNAL OF MEDICAL GENETICS
Artículo2001 Fluorescence resonance energy transfer analysis of CCR2-V64I and SDF1-3 ' A polymorphisms: Prevalence in southern Spain HIV type 1(+) cohort and noninfected population AIDS RESEARCH AND HUMAN RETROVIRUSES
Artículo2001 Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population CLINICAL ENDOCRINOLOGY
Artículo2001 Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene. HUMAN MUTATION
Artículo2001 Identification of two highly informative STRs (GT15-25) and (GT9-21) within the critical region of RP25 HUMAN MUTATION
Artículo2001 Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa HUMAN MUTATION
Artículo2001 Novel technique for scanning of codon 634 of the RET protooncogene with fluorescence resonance energy transfer and real-time PCR in patients with medullary thyroid carcinoma CLINICAL CHEMISTRY
Letter2001 Spectrofluorimetric analysis of CCR5-Delta 32 allele using real-time polymerase chain reaction: Prevalence in southern Spanish HIV+ patients and noninfected population AIDS RESEARCH AND HUMAN RETROVIRUSES
Artículo2000 A new germline mutation, R600Q, within the coding region of RET proto-oncogene: a rare polymorphism or a MEN 2 causing mutation? HUMAN MUTATION
Letter2000 Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP12) and mutation analysis of the candidate gene RGS16 (RGS-r) JOURNAL OF MEDICAL GENETICS
Letter2000 Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa (RP25) JOURNAL OF MEDICAL GENETICS
Artículo2000 Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2) Ophthalmic Genetics
Artículo2000 RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease JOURNAL OF MEDICAL GENETICS
Resumen congreso2000 Unique RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. AMERICAN JOURNAL OF HUMAN GENETICS
Artículo1999 Arachnoid cyst of the posterior fossa as an echographic marker of Edwards' syndrome Progresos de Obstetricia y Ginecología
Artículo1999 High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain JOURNAL OF MEDICAL GENETICS
Artículo1999 Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa European Journal of Human Genetics
Artículo1999 Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression JOURNAL OF MEDICAL GENETICS
Resumen congreso1999 Specific sequence polymorphisms in the RET proto-oncogene are over-represented in individuals with Hirschsprung disease and may represent loci modifying phenotypic expression. AMERICAN JOURNAL OF HUMAN GENETICS
Artículo1999 The multiple synostoses syndrome: case report and literature review FOOT AND ANKLE SURGERY
Artículo1998 A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid receptor clusters AMERICAN JOURNAL OF HUMAN GENETICS
Artículo1998 Bases moleculares de la heterogeneidad clínica de la fibrosis quística Neumosur
Artículo1998 Cys 634 mutations in the RET proto oncogene in spanish families affected by MEN 2A HUMAN MUTATION
Artículo1998 Localización de un nuevo gen para retinosis pigmentaria autosómica recesiva no sindrómica de alta prevalencia en España en el brazo largo del cromosoma 6. Vision
Artículo1998 Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Artículo1997 Bases moleculares de la heterogeneidad clínica de la fibrosis quística Neumosur
Artículo1997 Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W JOURNAL OF MEDICAL GENETICS
Artículo1997 PCR mutagenesis-based method for generation of positive controls for SSCP analysis BIOTECHNIQUES
Artículo1996 A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa HUMAN MUTATION
Artículo1996 G106R rhodopsin mutation is also present in Spanish ADRP patients Ophthalmic paediatrics and genetics
Artículo1996 Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa. HUMAN MUTATION
Artículo1996 Mortality by congenital anomalies in Spain Progresos de Obstetricia y Ginecología
Letter1996 Reverse mutation in fragile X syndrome [1] AMERICAN JOURNAL OF HUMAN GENETICS
Artículo1996 Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: A pancreatic sufficiency/insufficiency mutation with variable clinical presentation JOURNAL OF MEDICAL GENETICS
Letter1996 Two additional ANLL cases with chromosome 3 rearrangements involving bands q21 and q26 CANCER GENETICS AND CYTOGENETICS
Artículo1995 Retinitis pigmentosa in Spain CLINICAL GENETICS
Artículo1994 Estudio de la variabilidad clínica y la heterogeneidad genética en la retinitis pigmentosa Archivos de la Sociedad Española de Oftalmología
Nota1994 Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa HUMAN MOLECULAR GENETICS
Artículo1994 MEGALOCORNEA-MENTAL RETARDATION SYNDROME - AN ADDITIONAL CASE AMERICAN JOURNAL OF MEDICAL GENETICS
Artículo1994 Molecular and clinical analyses of cystic fibrosis in the South of Spain CLINICAL GENETICS
Artículo1993 Neonatal manifestations of Schwartz-Jampel-Aberfeld syndrome Revista Española de Pediatría Clínica e Investigación
Artículo1993 Prenatal diagnosis. Estimations of the risk population in Andalucia and strategies for its coverage Progresos de Obstetricia y Ginecología
Letter1993 TRANSLOCATION (14 18) IN A PATIENT WITH COMMON ACUTE LYMPHOBLASTIC-LEUKEMIA (FAB-L2) CANCER GENETICS AND CYTOGENETICS
Letter1993 TRANSLOCATION (812) IN A PATIENT WITH AGNOGENIC MYELOID METAPLASIA CANCER GENETICS AND CYTOGENETICS
Artículo1992 Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes HUMAN MUTATION
Artículo1992 Familial spastic paraplegia with neuropathy and poikiloderma. A new syndrome? CLINICAL GENETICS
Letter1992 Translocation (2;9) in a patient with chronic myelogenous leukaemia Rh'-negative in blastic crisis [2] SANGRE
Artículo1989 Oro-facial-digital type II syndrome: contribution of a new case and differential diagnosis with other similar clinical pictures Anales Españoles de Pediatría
Artículo1989 Rapidly progressive congenital muscular dystrophy. Introduction to a family with two affected children Revista Española de Pediatría Clínica e Investigación
Artículo1989 Seckel's syndrome: report of one case and differential diagnosis with other types of microcephalic dwarfism Revista Española de Pediatría Clínica e Investigación
Artículo1989 Síndrome orañ-facial-digital II: Aportación de un caso y diagnóstico diferencial con cuadros clínicamente similares Anales Españoles de Pediatría
Artículo1989 Translocation T (1;15) (Q21;P13) in a male with azoospermia ACTAS UROLOGICAS ESPANOLAS
Artículo1989 Turner's syndrome and long isochromosome of the X chromosome; Report of 20 cases Revista Española de Pediatría Clínica e Investigación
Artículo1989 Turner's syndrome in 42 patients by chromosome 45-XO Revista Española de Pediatría Clínica e Investigación
Artículo1988 48,XXXX syndrome: Follow up of a girl from birth to 6 1/2 years, and a review of the literature Revista Española de Pediatría Clínica e Investigación
Artículo1988 Clinical anopthalmia: Presentation of a case in a family with two affected children Revista Española de Pediatría Clínica e Investigación
Artículo1988 Roberts syndrome S.C.-Focomelia: Cytogenetic findings om three sibs Anales Españoles de Pediatría
Artículo1988 Síndrome 49,XXXXX: aportación de un caso Acta pediátrica española
Artículo1988 Tetrasomía 18p: Aportación de un caso Anales Españoles de Pediatría
Artículo1988 Trisomy 4p in a family with t(3, 4) translocation Revista Española de Pediatría Clínica e Investigación
Artículo1987 Prenatal diagnosis of chromosomal anomalies by the culture of amniotic fluid cells Progresos de Obstetricia y Ginecología

Proyectos de Investigación

Fecha de inicio Fecha de fin Denominación Agencia financiadora Importe concedido
01/02/2020 30/04/2022 Aproximación genómica para la identificación de un perfil personalizado de la respuesta a la estimulación ovárica controlada en Reproducción Humana Asistida (US-1265415) Junta de Andalucía (Consejería de Economía y Conocimiento) (Autonómico) 70.000,00 €
01/01/2020 31/12/2022 Aproximación genómica para la identificación de un perfil personalizado de la respuesta a la estimulación ovárica controlada en Reproducción Humana Asistida (P18-RT-3638) Junta de Andalucía (Consejería de Economía y Conocimiento) (Autonómico) 119.652,00 €

Contratos

Fecha de inicio Fecha de fin Denominación Agencia financiadora Importe concedido
22/04/2019 21/04/2025 Desarrollo de aplicaciones clínicas, genómicas y bioinformáticas para el abordaje de enfermedades raras: las distrofias hereditarias de retina como modelo (3587/0642) FUNDACIÓN ISABEL GEMIO (Desconocido)
01/01/2015 31/12/2016 Contrato Auditoría y Elaboración de Proyecto de I+D+I (2550/0642) FUNDACIÓN GINEMED (Desconocido)
07/02/2014 06/02/2015 Contrato Auditoría y Elaboración de Proyecto de I+D+I (2285/0642) FUNDACIÓN GINEMED (Desconocido)
17/06/2013 16/11/2015 Asesoramiento científico-técnico a la Dirección del proyecto "Acción Multidisciplinar en Enfermedades Raras y Medicina Personalizada (AMER)" (1896/0642) Everis Spain S.L. (Desconocido)
01/01/2013 01/12/2013 Desarrollo e Implementación de una estrategia de I+D+I para Ginemed. (1765/0642) FUNDACIÓN GINEMED (Desconocido)

Patentes

Nº Solicitud Fecha Solicitud Fecha Concesión Nombre
P201030370 15/03/2010 18/01/2013 Sistema de análisis y gestión de imágenes quirúrgicas.