المؤلفون: Juan Luque, Ingrid Mendes, Beatriz Gómez, Beatriz Morte, Miguel López de Heredia, Enrique Herreras, Virginia Corrochano, Juan Bueren, Pía Gallano, Rafael Artuch, Cristina Fillat, Luis A. Pérez-Jurado, Lluis Montoliu, Ángel Carracedo, José M. Millán, Susan M. Webb, Francesc Palau, The CIBERER Network, Pablo Lapunzina

المصدر: Juan Luque Ingrid Mendes Beatriz Gómez Beatriz Morte Miguel López de Heredia Enrique Herreras Virginia Corrochano Juan Bueren Pía Gallano Rafael Artuch Cristina Fillat Luis A. Pérez-Jurado Lluis Montoliu Ángel Carracedo José M. Millán Susan M. Webb Francesc Palau The CIBERER Network Pablo Lapunzina 2022 CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative Clinical Genetics May;101(5-6):48 48

وصف الملف: application/pdf

Relation: Clinical Genetics, 2022, vol. May;101(5-6):48, p. 48; https://hdl.handle.net/10550/95631; 153373

الاتاحة: https://hdl.handle.net/10550/95631
https://doi.org/10.1111/cge.14113

المؤلفون: Anna Esteve-Garcia, Estefania Cobos, Cristina Sau, Ariadna Padró-Miquel, Jaume Català-Mora, Pilar Barberán-Martínez, José M. Millán, Gema García-García, Cinthia Aguilera

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: TULP1, inherited retinal dystrophy, atypical phenotype, whole-exome sequencing, minigene splice assay, Genetics, QH426-470

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1352063/full; https://doaj.org/toc/1664-8021; https://doaj.org/article/7498f0855a6149f8b650b1741e4a7da2

الاتاحة: https://doi.org/10.3389/fgene.2024.1352063
https://doaj.org/article/7498f0855a6149f8b650b1741e4a7da2

المؤلفون: Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis

المصدر: JCI Insight, Vol 8, Iss 21 (2023)

مصطلحات موضوعية: Genetics, Ophthalmology, Medicine

Relation: https://doi.org/10.1172/jci.insight.169426; https://doaj.org/toc/2379-3708; https://doaj.org/article/95febfe0764a45129e5a016236db8fd5

الاتاحة: https://doaj.org/article/95febfe0764a45129e5a016236db8fd5

المؤلفون: Brian D. Perkins, Glenn P. Lobo, Altaf A. Kondkar, Jose M. Millan

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: retinal dystrophy, inherited retinal degeneration (IRD), gene therapy, retinal regeneration, genetic testing, photoreceptor degeneration, Biology (General), QH301-705.5

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1301279/full; https://doaj.org/toc/2296-634X; https://doaj.org/article/b3fd9fe8782f4b1bb9aea201f5bf318e

الاتاحة: https://doi.org/10.3389/fcell.2023.1301279
https://doaj.org/article/b3fd9fe8782f4b1bb9aea201f5bf318e

المؤلفون: Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina-Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José M. Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cuscó, Eduardo F. Tizzano

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 15; Pages: 8289

مصطلحات موضوعية: spinal muscular atrophy, SMN2 copies, phenotype–genotype correlations, positive modifiers, next-generation sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23158289

الاتاحة: https://doi.org/10.3390/ijms23158289

المؤلفون: José M. Millán, Gema García-García

المصدر: Diagnostics; Volume 12; Issue 4; Pages: 809

مصطلحات موضوعية: n/a

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics12040809

الاتاحة: https://doi.org/10.3390/diagnostics12040809

المؤلفون: Ana Rodriguez-Muñoz, Alessandro Liquori, Belén García-Bohorquez, Teresa Jaijo, Elena Aller, José M. Millán, Gema García-García

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: Medicine, Science

Relation: https://doi.org/10.1038/s41598-021-03925-1; https://doaj.org/toc/2045-2322; https://doaj.org/article/013ec3b6a26547d8b1bd848274d6933b

الاتاحة: https://doi.org/10.1038/s41598-021-03925-1
https://doaj.org/article/013ec3b6a26547d8b1bd848274d6933b

المؤلفون: Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, José M. Millán, Gema García-García

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 13; Pages: 6723

مصطلحات موضوعية: deafblindness, inherited retinal dystrophy, retinitis pigmentosa, sensorineural hearing loss, inner ear, photoreceptor, variant curation, pathogenic variant

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22136723

الاتاحة: https://doi.org/10.3390/ijms22136723

المؤلفون: Jorge Raga-Cervera, Jose M. Bolarin, Jose M. Millan, Jose J. Garcia-Medina, Laia Pedrola, Javier Abellán-Abenza, Mar Valero-Vello, Silvia M. Sanz-González, José E. O’Connor, David Galarreta-Mira, Elena Bendala-Tufanisco, Aloma Mayordomo-Febrer, Maria D. Pinazo-Durán, Vicente Zanón-Moreno

المصدر: Journal of Clinical Medicine; Volume 10; Issue 11; Pages: 2227

مصطلحات موضوعية: ocular hypertension, glaucoma, tears, miRNAs, next generation sequencing, biomarkers, genes, signaling pathways, oxidative stress, inflammation, apoptosis, neurodegeneration

وصف الملف: application/pdf

Relation: Ophthalmology; https://dx.doi.org/10.3390/jcm10112227

الاتاحة: https://doi.org/10.3390/jcm10112227

المؤلفون: Brais Bea-Mascato, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José M. Millán, Carmen Ayuso, Diana Valverde

المصدر: Genes; Volume 12; Issue 2; Pages: 282

مصطلحات موضوعية: ciliopathies, Alström syndrome, metabolic disease, novel mutations, founder effect

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12020282

الاتاحة: https://doi.org/10.3390/genes12020282

المؤلفون: Belén García Bohórquez, Elena Aller, Ana Rodríguez Muñoz, Teresa Jaijo, Gema García García, José M. Millán

المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

مصطلحات موضوعية: inherited retinal dystrophies, diagnosis, custom-panels, gene, pathogenic, deep-intronic, Biology (General), QH301-705.5

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.645600/full; https://doaj.org/toc/2296-634X; https://doaj.org/article/37aaab902e9d4f8ea36f8e06bd957726

الاتاحة: https://doi.org/10.3389/fcell.2021.645600
https://doaj.org/article/37aaab902e9d4f8ea36f8e06bd957726

المؤلفون: Gema García-García, Alba Berzal-Serrano, Piedad García-Díaz, Rebeca Villanova-Aparisi, Sara Juárez-Rodríguez, Carlos de Paula-Vernetta, Laura Cavallé-Garrido, Teresa Jaijo, Miguel Armengot-Carceller, José M Millán, Elena Aller

المصدر: Genes; Volume 11; Issue 12; Pages: 1467

مصطلحات موضوعية: hearing loss, next-generation sequencing, genetics, molecular analysis, clinical evaluation

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes11121467

الاتاحة: https://doi.org/10.3390/genes11121467

المؤلفون: Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, José M. Millán, Gema García-García

المصدر: Genes; Volume 11; Issue 5; Pages: 473

مصطلحات موضوعية: retinal diseases, gene editing, CRISPR, cellular models, animal models, variants of unknown significance, functional studies, variant validation

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11050473

الاتاحة: https://doi.org/10.3390/genes11050473

المؤلفون: Raquel Baviera‐Muñoz, Lidón Carretero‐Vilarroig, Nuria Muelas, Rafael Sivera, Pablo Sopena‐Novales, Begoña Martínez‐Sanchis, Isabel Sastre‐Bataller, Marina Campins‐Romeu, Irene Martínez‐Torres, Jose Manuel García‐Verdugo, Jose M. Millán, Teresa Jaijo, Elena Aller, Luis Bataller

المصدر: Movement Disorders Clinical Practice.

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ee635d34fab223c4550402872256d3ca
https://doi.org/10.1002/mdc3.13740

المؤلفون: Elayne E. Santana, Carla Fuster-García, Elena Aller, Teresa Jaijo, Belén García-Bohórquez, Gema García-García, José M. Millán, Araceli Lantigua

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: retinitis pigmentosa, sensorineural hearing loss, Usher syndrome, deaf-blindness, molecular genetics, Genetics, QH426-470

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00501/full; https://doaj.org/toc/1664-8021; https://doaj.org/article/b50ca84a61264bb4bcb1a22564902727

الاتاحة: https://doi.org/10.3389/fgene.2019.00501
https://doaj.org/article/b50ca84a61264bb4bcb1a22564902727

المؤلفون: Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V Cervera, Jose M Millan, Laia Pedrola

المصدر: PLoS ONE, Vol 13, Iss 12, p e0207296 (2018)

مصطلحات موضوعية: Medicine, Science

Relation: https://doi.org/10.1371/journal.pone.0207296; https://doaj.org/toc/1932-6203; https://doaj.org/article/4521699476574d809db35ed2954977bd

الاتاحة: https://doi.org/10.1371/journal.pone.0207296
https://doaj.org/article/4521699476574d809db35ed2954977bd

المؤلفون: Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso

المصدر: PLoS ONE, Vol 13, Iss 6, p e0199048 (2018)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC6005481?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/a9a6c6670c604daeaafc89447b5fa6dc

الاتاحة: https://doi.org/10.1371/journal.pone.0199048
https://doaj.org/article/a9a6c6670c604daeaafc89447b5fa6dc

المؤلفون: Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D. Sequedo, Carmen Ayuso, Rafael P. Vázquez-Manrique, José M. Millán, Elena Aller

المصدر: Molecular Therapy: Nucleic Acids, Vol 8, Iss , Pp 529-541 (2017)

مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950

Relation: http://www.sciencedirect.com/science/article/pii/S2162253117302299; https://doaj.org/toc/2162-2531; https://doaj.org/article/f43fca243fef4f4a9973a953b7c526c3

الاتاحة: https://doi.org/10.1016/j.omtn.2017.08.003
https://doaj.org/article/f43fca243fef4f4a9973a953b7c526c3

المؤلفون: Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, Carlos Morata-Martínez, Marina Campins-Romeu, Nuria Muelas, Isabel Sastre-Bataller, Irene Martínez-Torres, Julia Pérez-García, Rafael Sivera, Teresa Sevilla, Juan J. Vilchez, Teresa Jaijo, Carmen Espinós, Jose M. Millán, Luis Bataller, Elena Aller

المصدر: Neurology. Genetics. 8(6)

مصطلحات موضوعية: Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1195d4c0d80c5e8e15a487923001d21a
https://pubmed.ncbi.nlm.nih.gov/36530930

المؤلفون: Fiona Blanco-Kelly, María García Hoyos, Miguel Angel Lopez Martinez, Maria Isabel Lopez-Molina, Rosa Riveiro-Alvarez, Patricia Fernandez-San Jose, Almudena Avila-Fernandez, Marta Corton, Jose M Millan, Blanca García Sandoval, Carmen Ayuso

المصدر: PLoS ONE, Vol 11, Iss 2, p e0149473 (2016)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC4766102?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/6b6ba66396004b248dfbf8abb38988cf

الاتاحة: https://doi.org/10.1371/journal.pone.0149473
https://doaj.org/article/6b6ba66396004b248dfbf8abb38988cf