Áreas de trabajo
Distrofias hereditarias de retina
Degeneración progresiva de fotorreceptores; apoptosis;
hetereogeneidad clínica y genética; retinosis pigmentaria
autosómica recesiva; locus RP25; estudio molecular y funcional;
ligamiento genético.
Medicina y terapia fetal
Anomalías congénitas, Cirugía fetal, EXIT (Ex utero intrapartum
surgery).
Terapia celular
Derivación de líneas de células madres embrionarias humanas de
preembriones afectos de enfermedades genéticas obtenidos tras
diagnóstico genético preimplantacional. PGD; células madre; cultivo
celular.
Cáncer de mama y/u ovario
Cáncer hereditario; estudio epidemiológico; BRCA1; BRCA2; estudios
familiares.
Chimenea, A; Garcia-Diaz, L; Moreno-De las Heras, M; Coserria, F; Antinolo, G
Giant right atrial aneurysm. Prenatal diagnosis and outcome of a rare congenital abnormality
JOURNAL OF OBSTETRICS AND GYNAECOLOGY
Oprescu, AM; Miro-Amarante, G; Garcia-Diaz, L; Beltran, LM; Rey, VE; Romero-Ternero, M
Artificial Intelligence in Pregnancy: A Scoping Review
IEEE ACCESS
Garcia-Diaz, L; Chimenea, A; de Agustin, JC; Pavon, A; Antinolo, G
Ex-Utero Intrapartum Treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal masses
BMC PREGNANCY AND CHILDBIRTH
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
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
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
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Garcia-Lozano, JC; Lozano-Arana, MD
Prenatal diagnostic techniques and IVF in patients with coagulopathies
BLOOD COAGULATION & FIBRINOLYSIS
Mavillard F, Madruga-Garrido M, Rivas E, Servián-Morilla E, Ávila-Polo R, Marcos I, Morón FJ, Paradas C, Cabrera-Serrano M
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Ann Clin Transl Neurol.
Torroglosa A, Villalba-Benito L, Luzón-Toro B, Fernández RM, Antiñolo G, Borrego S
Epigenetic Mechanisms in Hirschsprung Disease.
Int J Mol Sci.
Luzón-Toro B, Fernández RM, Martos-Martínez JM, Rubio-Manzanares-Dorado M, Antiñolo G, Borrego S
LncRNA LUCAT1 as a novel prognostic biomarker for patients with papillary thyroid cancer.
Sci Rep.
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
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
Sci Rep
Luzón-Toro B, Fernández RM, Villalba-Benito L, Torroglosa A, Antiñolo G, Borrego S .
Influencers on Thyroid Cancer Onset: Molecular Genetic Basis.
Genes (Basel)
Bravo-Gil N, Marcos I, González-Meneses A, Antiñolo G, Borrego S
Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report.
Medicine (Baltimore).
Morillo Sánchez MJ, Llavero Valero P, González-Del Pozo M, Ponte Zuñiga B, Antiñolo G, Ramos Jiménez M, Rodríguez De La Rúa Franch E
Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.
Ophthalmic Genet.
Chimenea Á, García-Díaz L, Moreno-De Las Heras M, Coserria F, Antiñolo G
Giant right atrial aneurysm. Prenatal diagnosis and outcome of a rare congenital abnormality.
J Obstet Gynaecol.
Luzón Toro B, Fernández García RM, Torroglosa A, Villalba Benito L, Antiñolo G, Borrego S
What are Telling us Genetics, Epigenetics and Environment of an Individual with Thyroid Cancer?
Annals of Thyroid Research.
Luzón Toro B, Fernández García RM, Martos Martínez JM, Antiñolo G, Borrego S
Identification of new long non-coding RNAs associated with medullary thyroid cancer.
Oral Health and Care
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.
MLL-rearranged acute myeloid leukemia: Influence of the genetic partner in allo-HSCT response and prognostic factor of MLL 3' region mRNA expression.
Eur J Haematol.
Chimenea A, García-Díaz L, Calderón AM, Heras MML, Antiñolo G.
Resolution of maternal Mirror syndrome after succesful fetal intrauterine therapy: a case series.
BMC PregnancyChildbirth.
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.
Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation.
Arch Bronconeumol.
. González-Del Pozo M, Martín-Sánchez M, Bravo-Gil N, Méndez-Vidal C, Chimenea Á, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
Sci Rep.
