Inherited Retinal Dystrophies in Spain: three decades of epidemiological, clinical, and genetic study

Autor: I. Perea-Romero, L. Fernández-Caballero, I.F. Iancu, C. Rodilla, I. Martín-Mérida, A. Ávila-Fernández, B. Almoguera, R. Riveiro-Álvarez, M.J. Trujillo-Tiebas, I. Lorda-Sánchez, S. Tahsin-Swafiri, F. López-Grondona, A.I. Sánchez, F. Blanco-Kelly, M. Pozo-Valero, P. Mínguez, J.M. Millán, P. Martín-Gutiérrez, B. Jiménez-Rolando, E. Carreño, B. García-Sandoval, M. Cortón, C. Ayuso

Publikováno v: ANALES RANM. 139:274-284

Inherited Retinal Dystrophies (IRDs) are a group of rare diseases with a prevalence of 1:3000-4000 people. They are genetic, primarily affecting retinal photoreceptors and epithelial pigmentary cells, and lead to neurodegeneration and finally apoptos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0df55ea6eee3a877ab7679c8602d1221
https://doi.org/10.32440/ar.2022.139.03.rev08

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Autor: Beatriz Olivia Camarena Gómez, Angel Carracedo, Beatriz Morte, María Palomares-Bralo, Patricia Arias, Carmen Ayuso, Marta Pacio-Míguez, Fernando Santos-Simarro, Jair Tenorio-Castaño, Alma Kuechler, Pedro Arias, Feliciano J. Ramos, Eduardo F Tizzano, Sergio Ramos, Fermina López-Grondona, Luis A. Pérez-Jurado, María Pilar Méndez Perez, Julián Nevado, Berta Almoguera, Francisco Barros, Enrique Galán-Gómez, Sixto García-Miñaur, Alba Alcochea, Irene Valenzuela, Victor Martinez-Glez, Frank J. Kaiser, Ivon Cuscó, I. Lorda-Sánchez, Juan Pié, Pablo Lapunzina, Juan Carrión

Publikováno v: Genes, Vol 12, Iss 738, p 738 (2021)
Genes
Volume 12
Issue 5
Biblos-e Archivo. Repositorio Institucional de la UAM
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Scientia

Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bf6a6c2c7cd1876f586026d787166a
https://www.mdpi.com/2073-4425/12/5/738

Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants

Autor: Marta Del Pozo-Valero, I. Lorda-Sánchez, Rosa Riveiro-Alvarez, Marta Corton, Fiona Blanco-Kelly, María José Trujillo-Tiebas, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Almudena Avila-Fernandez, Inmaculada Martin-Merida, Carmen Ayuso, Carlo Rivolta, Elvira Rodriguez-Pinilla, Jana Aguirre-Lamban, Ester Carreño, Ionut-Florin Iancu, Ignacio Mahillo-Fernández, Saoud Tahsin Swafiri

Publikováno v: American journal of ophthalmology. 219

Purpose To define genotype–phenotype correlations in the largest cohort study worldwide of patients with biallelic ABCA4 variants, including 434 patients with Stargardt disease (STGD1) and 72 with cone-rod dystrophy (CRD). Design Cohort study. Meth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29f47a275720547891fb4a84afe1dfdb
https://pubmed.ncbi.nlm.nih.gov/32619608

56. A NEW AGE IN PGT-M: A DECADE´S EXPERIENCE AND NEW CHALLENGES TO DEAL WITH

Autor: C. Velez-Monsalve, I. Galan, C. Hernandez-Rodriguez, A. Arteche-Lopez, M. Trujillo–Tiebas, M. Rodriguez de Alba, Laura Rodríguez, C. Linares, Jesus Gallego-Merlo, I. Lorda-Sánchez, Carmen Ayuso, M. Gago, Ana Bustamante-Aragones, Almudena Avila-Fernandez, B. Acebedo-Martin

Publikováno v: Reproductive BioMedicine Online. 39:e60-e61

Introduction Genetic diagnosis has evolved dramatically mainly due to application of NGS approaches. Identification of mutations in different genes related with the disease and interpretation of pathogenicity of the new genetic variants found are som

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5de031a733e9d4235031f3dc0885ffa0
https://doi.org/10.1016/j.rbmo.2019.04.109

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Autor: Smriti A. Agrawal, Chris F. Inglehearn, Huajin Li, Rachel Gillespie, Nikolas Pontikos, Mingchu Xu, Michel Michaelides, Liliana F. Azevedo, Susan M. Downes, Johannes von Lintig, Gavin Arno, Georgina Hall, Darwin Babino, Carmel Toomes, Rui Chen, Hana Abouzeid, Patrick Nitschké, Yajing Xie, Jeanne Amiel, Li Zhao, Rando Allikmets, Valeria Kheir, Andrew R. Webster, Martin McKibbin, Christopher T. Gordon, Hervé Le Hir, Zachry T. Soens, Forbes Manson, Ruifang Sui, Carmen Ayuso, Laurence Hubert, Graeme C.M. Black, Virginia Busetto, Emma C. Lord, Aiden Eblimit, Christine Bole-Feysot, Daniel F. Schorderet, Gaëtan Pinton, Yumei Li, Simon C Ramsden, Lizhu Yang, Zhisheng Yuan, Nathalie Allaman-Pillet, I. Lorda-Sánchez, James A. Poulter, Vincent Plagnol, Panagiotis Sergouniotis, Zixi Sun, Hui Li, Claude Besmond, Myriam Oufadem, Michael E. Cheetham, Alessia Fiorentino, Rolph Pfundt, Rachayata Dharmat, Rosa Riveiro-Alvarez, Manir Ali, Stephanie Halford, Jing Yu, Linda Bapst-Wicht, Alison J. Hardcastle, Stanislas Lyonnet, Miguel A. Lopez-Martinez, Ihab S. Osman, Peter Stoilov, Andrea H. Németh, Anna Lehman

Publikováno v: American Journal of Human Genetics, 100, 592-604
American Journal of Human Genetics, 100, 4, pp. 592-604

Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f70d9a145970538bb2658e73e55e27df
https://doi.org/10.1016/j.ajhg.2017.02.008