المؤلفون: Maria Tarilonte, Marta Corton, M.A. Moreno-Pelayo, M. Villamar, Alejandra Tamayo, Fiona Blanco-Kelly, Carmen Ayuso, Alejandra Damian

المصدر: Archivos de la Sociedad Española de Oftalmología. 96:4-14

مصطلحات موضوعية: Ophthalmology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::91fb13a2676481746b1cf2d770b89582
https://doi.org/10.1016/j.oftal.2021.02.002

المؤلفون: Guilermo Fernandez-Sanz, Patrick Calvas, Marta Corton, Carmen Ayuso, Patricia Ramos, Raquel Romero, Maria Tarilonte, Alejandra Tamayo, Fiona Blanco-Kelly, Blanca Gener, Saoud Tahsin Swafiri, Jennifer Moya, Cristina Villaverde

المصدر: Journal of Medical Genetics. 59:428-437

مصطلحات موضوعية: 0301 basic medicine, Genetics, Alternative splicing, 030105 genetics & heredity, Biology, medicine.disease, eye diseases, Exon skipping, 03 medical and health sciences, Exon, 030104 developmental biology, Aniridia, RNA splicing, medicine, sense organs, PAX6, Gene, Genetics (clinical), Minigene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::feb11b792783273668def8eeca63eaf3
https://doi.org/10.1136/jmedgenet-2020-106932

المؤلفون: Marta Corton, Carmen Ayuso, Fiona Blanco-Kelly, Alejandra Tamayo, M.A. Moreno-Pelayo, Maria Tarilonte, M. Villamar, Alejandra Damian

المصدر: Archivos de la Sociedad Espanola de Oftalmologia. 96

مصطلحات موضوعية: Genetics, medicine.diagnostic_test, Cerebellar Ataxia, PAX6 Transcription Factor, business.industry, WAGR syndrome, General Medicine, medicine.disease, Gillespie syndrome, eye diseases, Stop codon, Dysgenesis, WAGR Syndrome, Aniridia, Mutation, medicine, Humans, sense organs, PAX6, business, Haploinsufficiency, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e34162d2de98b24afa5b4ac4857798fd
https://pubmed.ncbi.nlm.nih.gov/34836588

المؤلفون: Maria, Tarilonte, Patricia, Ramos, Jennifer, Moya, Guilermo, Fernandez-Sanz, Fiona, Blanco-Kelly, Saoud Tahsin, Swafiri, Cristina, Villaverde, Raquel, Romero, Alejandra, Tamayo, Blanca, Gener, Patrick, Calvas, Carmen, Ayuso, Marta, Corton

المصدر: Journal of medical genetics. 59(5)

مصطلحات موضوعية: Homeodomain Proteins, PAX6 Transcription Factor, Mutation, Humans, Eye Abnormalities, RNA Splice Sites, Eye Proteins, Aniridia, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1da0dd4783ee7f208e6729f20625145f
https://pubmed.ncbi.nlm.nih.gov/33782094

المؤلفون: Patricia Ramos, María José Sánchez-Soler, Alison Stewart, Nicolas Chassaing, Jonathan Bruty, Patrick Calvas, Domingo Aguilera-Garcia, Helen Stewart, Dominic J. McMullan, Dorine Bax, Yvonne Wallis, Alan Fryer, Anand Saggar, Carmen Ayuso, Cristina Villaverde, Fabiola Ceroni, Marta Corton, Luciana Rodrigues Jacy da Silva, Lisa Cooper-Charles, Michael J. Griffiths, Victoria McKay, Jonathan Hoffman, Maria Tarilonte, David J. Bunyan, María Juliana Ballesta-Martínez, Nicola K. Ragge, Richard J. Holt, Katherine Lachlan, Fiona Blanco-Kelly, Joelle Roume, Pascal Dureau

المساهمون: Oxford Brookes University, Universidad Autónoma de Madrid (UAM), CIBER de Enfermedades Raras (CIBERER), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Oxford University Hospitals NHS Trust, University of Oxford, University College of London [London] (UCL), University Hospital Murcia, Partenaires INRAE, Birmingham Women's and Children's NHS Foundation Trust, Salisbury District Hospital, Sheffield Children's NHS Foundation Trust, University Hospital Southampton NHS Foundation Trust, University of Southampton, Liverpool Women's NHS Foundation Trust, CHI Poissy-Saint-Germain, Fondation Ophtalmologique Adolphe de Rothschild [Paris], St George's, University of London, The Wellcome Trust Sanger Institute [Cambridge], CP12/03256/Spanish Institute of Health Carlos III SAF2013-46943-R/Spanish Ministry of Economy and CompetitivenessHICF-1009-003/Health Innovation Challenge Fund, Pistre, Karine, Ceroni F., Aguilera-Garcia D., Chassaing N., Bax D.A., Blanco-Kelly F., Ramos P., Tarilonte M., Villaverde C., da Silva L.R.J., Ballesta-Martinez M.J., Sanchez-Soler M.J., Holt R.J., Cooper-Charles L., Bruty J., Wallis Y., McMullan D., Hoffman J., Bunyan D., Stewart A., Stewart H., Lachlan K., Fryer A., McKay V., Roume J., Dureau P., Saggar A., Griffiths M., Calvas P., Ayuso C., Corton M., Ragge N.K.

المصدر: Human Genetics
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩

مصطلحات موضوعية: Male, MESH: Mutation, Missense / genetics, Human eye development, genetic structures, MESH: Lens, Crystalline / pathology, medicine.disease_cause, Microphthalmia, Connexins, Cohort Studies, Missense mutation, Eye Abnormalities, MESH: Cohort Studies, Genetics (clinical), MESH: Heterozygote, Genetics, 0303 health sciences, Coloboma, Mutation, 030305 genetics & heredity, Gap Junctions, MESH: Gap Junctions / genetics, Pedigree, GJA8, Phenotype, MESH: Connexins / genetics, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Gap Junction, Heterozygote, [SDV.IMM] Life Sciences [q-bio]/Immunology, MESH: Pedigree, MESH: Eye Proteins / genetics, Mutation, Missense, Biology, Connexin, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Phenotype, Cataract, 03 medical and health sciences, Cataracts, MESH: Genetic Association Studies / methods, Lens, Crystalline, medicine, Humans, Sclerocornea, Eye Proteins, Genetic Association Studies, 030304 developmental biology, Anophthalmia, MESH: Humans, aphakia, Len, medicine.disease, eye diseases, MESH: Male, MESH: Cataract / genetics, microphthalmia, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Eye Abnormalities / genetics, Eye development, sense organs, MESH: Female

وصف الملف: application/pdf; STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::122f27747b3dc12ebac73973e54e0086
https://ut3-toulouseinp.hal.science/hal-03542896

المؤلفون: C. Jeanton-Scaramouche, Carmen Ayuso, Marta Corton, Lucas Fares-Taie, Patricia Ramos, I. Arroyo, Alice Goldenberg, D. Aguilera, Nicolas Chassaing, Jean-Michel Rozet, V. Gaston, Patrick Calvas, Julie Plaisancié, Fiona Blanco-Kelly, H. Dollfus, Christine Francannet, Cristina Villaverde, Maria Tarilonte, J. C. Kaplan

المساهمون: Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], IIS‑Fundación Jiménez Diaz‑Autonoma University [Madrid, Spain], CIBER de Enfermedades Raras (CIBERER), Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Department of Genetics, Hospital of Caceres

المصدر: Human Genetics
Human Genetics, Springer Verlag, 2018, 137 (10), pp.831-846. ⟨10.1007/s00439-018-1940-x⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Untranslated region, PAX6 Transcription Factor, Genome, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Child, Coding region, Child, 3' Untranslated Regions, Aniridia, Genetics (clinical), MESH: Middle Aged, Non-coding mutation, MESH: 3' Untranslated Regions, Middle Aged, Enhancer Elements, Genetic, Child, Preschool, Female, Adult, MESH: Mutation, Adolescent, Locus (genetics), Computational biology, Biology, MESH: Genetic Loci, 03 medical and health sciences, 5′UTR, MESH: Aniridia / genetics, Genetics, medicine, Humans, Minigene assay, MESH: Adolescent, MESH: Humans, MESH: PAX6 Transcription Factor / genetics, Eye development, MESH: Child, Preschool, Cis-regulatory region, MESH: Adult, medicine.disease, Human genetics, eye diseases, MESH: Male, PAX6, 030104 developmental biology, Genetic Loci, Mutation, sense organs, MESH: Enhancer Elements, Genetic, MESH: Female, Minigene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a47ea9a42d72e3fff4855cdd9188f7
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03174772

المؤلفون: María Tarilonte, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J. Muñoz-Negrete, Saoud Tahsin-Swafiri, Blanca Gener, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Manuela Villamar, Marta Corton

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: parental mosaicism, PAX6, aniridia, variable expressivity, microphthalmia, post-zygotic variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2018.00479/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/801dfb1417c14445be3ac489617f1f8a