المؤلفون: V.E.F. Montaño, Susana Noval, B. Jimenez-Rolando, Rubén Martín-Arenas, Carlos Ibáñez, Elena Vallespín, J.C. Silla, A. del Pozo, I. Rosa-Perez, E. Mata Diaz

المصدر: Archivos de la Sociedad Española de Oftalmología (English Edition). 93:119-125

مصطلحات موضوعية: 0301 basic medicine, Genetics, genetic structures, biology, business.industry, ABCA4, General Medicine, Disease, Macular dystrophy, Bioinformatics, eye diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mutation (genetic algorithm), 030221 ophthalmology & optometry, biology.protein, Eye disorder, Medicine, Allelic heterogeneity, business, Gene, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::02be75e675fff4d66365dbdec17804ceTest
https://doi.org/10.1016/j.oftale.2017.06.004Test

المؤلفون: Patricia Cruz, Pilar Santisteban, Darío Sanchez-Cabrero, María Palomares-Bralo, Veronica Pulido, Rocío Rosas, Alvaro García-Guede, Javier de Castro, Carmen Rodriguez, MDolores Diestro, Inmaculada Ibáñez de Cáceres, Carlos Rodriguez-Antolin, Olga Vera, Rubén Martín-Arenas, Olga Pernía, Ana Sastre-Perona

مصطلحات موضوعية: Cisplatin, molecular_biology, Tumor suppressor gene, In silico, Cell, Wnt signaling pathway, Transfection, Biology, Malignancy, medicine.disease, medicine.disease_cause, medicine.anatomical_structure, medicine, Cancer research, Carcinogenesis, medicine.drug

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71390574d6d5e4826928db3c9da80f8dTest
https://doi.org/10.1101/517169Test

المؤلفون: Lara, Rodriguez-Laguna, Noelia, Agra, Kristina, Ibañez, Gloria, Oliva-Molina, Gema, Gordo, Noor, Khurana, Devon, Hominick, María, Beato, Isabel, Colmenero, Gonzalo, Herranz, Juan M, Torres Canizalez, Rebeca, Rodríguez Pena, Elena, Vallespín, Rubén, Martín-Arenas, Ángela, Del Pozo, Cristina, Villaverde, Ana, Bustamante, Carmen, Ayuso, Pablo, Lapunzina, Juan C, Lopez-Gutierrez, Michael T, Dellinger, Victor, Martinez-Glez

المصدر: The Journal of Experimental Medicine

مصطلحات موضوعية: Adult, Male, Sirolimus, Adolescent, Class I Phosphatidylinositol 3-Kinases, TOR Serine-Threonine Kinases, Mutation, Missense, nutritional and metabolic diseases, Article, Lymphatic System, Amino Acid Substitution, Child, Preschool, Humans, lipids (amino acids, peptides, and proteins), Female, cardiovascular diseases, Lymphangioleiomyomatosis, Child, Proto-Oncogene Proteins c-akt, hormones, hormone substitutes, and hormone antagonists, Research Articles, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::eebdb58195098c0d3268744e5876ca64Test
https://pubmed.ncbi.nlm.nih.gov/30591517Test

المؤلفون: Maria V. Gomez, Kristina Ibáñez, Fernando Santos-Simarro, Hector Gonzalez-Pecellin, Lara Rodriguez-Laguna, Ana Bustamante, Juan Carlos López-Gutiérrez, Cristina Villaverde, Elena Vallespín, Gema Gordo, Noelia Agra, Angela del Pozo, Pablo Lapunzina, Victor L. Ruiz-Perez, Julián Nevado, Victoria E. Fernandez-Montano, Sixto García-Miñaur, Carmen Ayuso, Rubén Martín-Arenas, Rocío Mena, Victor Martinez-Glez, Inmaculada Rueda-Arenas

المساهمون: Asociación Ultrafondo Solidario, Villarreal FC, Corporación de Radio y Televisión Española, Fundación Isabel Gemio, Instituto de Salud Carlos III, Federación Española de Enfermedades Neuromusculares, Federación Española de Enfermedades Raras, Fundación Conchita Rábago de Jiménez Díaz, Universidad Autónoma de Madrid

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Capillary malformation, Class I Phosphatidylinositol 3-Kinases, Somatic cell, 030105 genetics & heredity, Biology, Deep sequencing, CLAPO, Overgrowth, Arteriovenous Malformations, 03 medical and health sciences, Phosphatidylinositol 3-Kinases, medicine, Humans, Child, Lymphatic Diseases, Genetics (clinical), Genetic Association Studies, Retrospective Studies, Genetics, business.industry, Vascular malformation, High-Throughput Nucleotide Sequencing, PIK3CA, medicine.disease, Phenotype, Somatic mosaicism, Natural history, 030104 developmental biology, Lymphatic system, Mutation, Cohort, Vascular Disorder, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650b41c7c89879fd045c7aa85fa20ea0Test
https://doi.org/10.1101/154591Test

المؤلفون: Maria Orera, María Ángeles Mori, Elena Vallespín, Chad R. Haldeman-Englert, Alberto Fernández-Jaén, Xia Li, Alberto Plaja, Lani Devaney, María Palomares-Bralo, Alicia Delicado, Rubén Martín-Arenas, Salmo Raskin, Stephanie E. Vallee, Esther Corbacho-Fernández, Rocío Mena, Miguel Del Campo, Jay W. Ellison, Holly Dubbs, Jill A. Rosenfeld, Fernando Santos-Simarro, Sixto García-Miñaur, Sulagna C. Saitta, Lluís Armengol, M. Carmen Crespo, Carlos A. Venegas-Vega, Inmaculada Rueda-Arenas, Jair Tenorio, Victoria E. Fernandez-Montano, Fernando Fernández-Ramírez, Karen W. Gripp, Blanca Marín Fernández, María Luisa de Torres, Pablo Lapunzina, Gordon C. Gowans, Elizabeth Denenberg, Julián Nevado, M Carmen Sanchez-Hombre, Mary Beth Dinulos, Duban B Bénédicte

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: Male, Microcephaly, Candidate gene, Developmental Disabilities, MAP Kinase Kinase 2, MAP2K2, Biology, Bioinformatics, Article, Gene duplication, Chromosome Duplication, Genetics, medicine, Humans, Megalencephaly, Child, Poly-ADP-Ribose Binding Proteins, Genetics (clinical), Macrocephaly, Infant, Syndrome, medicine.disease, Protein Inhibitors of Activated STAT, Hypotonia, DNA-Binding Proteins, Child, Preschool, Speech delay, Female, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 19, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acda0a94c6bcf36efa06bb9657b508d7Test
https://pubmed.ncbi.nlm.nih.gov/25853300Test

المؤلفون: Julián Nevado, María Palomares, Fiona Blanco-Kelly, Carmen Ayuso, Rubén Martín-Arenas, Camilo Vélez-Monsalve, María José Trujillo-Tiebas, Marta Corton, Cristina Villaverde, Pablo Lapunzina, I. Lorda-Sánchez, Elena Vallespín

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
PLoS ONE
PLoS ONE, Vol 12, Iss 2, p e0172363 (2017)

مصطلحات موضوعية: Male, 0301 basic medicine, PAX6 Transcription Factor, lcsh:Medicine, 030105 genetics & heredity, Medicine and Health Sciences, Blastomas, Deletions, lcsh:Science, Nephroblastoma, Aniridia, Oligonucleotide Array Sequence Analysis, Comparative Genomic Hybridization, Multidisciplinary, medicine.diagnostic_test, Chromosome Biology, Genomics, Chromosomal Aberrations, Oncology, Female, Chromosome Deletion, Research Article, congenital, hereditary, and neonatal diseases and abnormalities, WAGR syndrome, Computational biology, Chromosomes, Human Genomics, 03 medical and health sciences, WAGR Syndrome, Diagnostic Medicine, Genetics, medicine, Humans, Multiplex ligation-dependent probe amplification, Genetic testing, business.industry, Chromosomes, Human, Pair 11, lcsh:R, Breakpoint, Biology and Life Sciences, Computational Biology, Cancers and Neoplasms, Human Genetics, Cell Biology, Comparative Genomics, medicine.disease, eye diseases, Human genetics, 030104 developmental biology, Genetic Loci, lcsh:Q, sense organs, PAX6, business, Comparative genomic hybridization

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4421ae058487536610c5c04b40bf1d4aTest
https://doi.org/10.1371/journal.pone.0172363Test

المؤلفون: Luis Fernández, Laura Casamayor Polo, María Bravo García‐Morato, Ana Belén Enguita Valls, Elena Ruiz‐Bravo, Patricia Muñoz‐Cabello, Kristina Ibáñez, Lara Rodríguez‐Laguna, Rubén Martín‐Arenas, Marta Ortega, María Palomares‐Bralo, Ángela Pozo, Luis García‐Guereta, Sixto García‐Miñaúr, Pablo Lapunzina, Elena Vallespín

الإتاحة: https://doi.org/10.1111/cge.13884/v2/response1Test