Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of...
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
About this item
Full title
Author / Creator
Sanchez-Navarro, Iker , R. J. da Silva, Luciana , Blanco-Kelly, Fiona , Zurita, Olga , Sanchez-Bolivar, Noelia , Villaverde, Cristina , Lopez-Molina, Maria Isabel , Garcia-Sandoval, Blanca , Tahsin-Swafiri, Saoud , Minguez, Pablo , Riveiro-Alvarez, Rosa , Lorda, Isabel , Sanchez-Alcudia, Rocío , Perez-Carro, Raquel , Valverde, Diana , Liu, Yichuan , Tian, Lifeng , Hakonarson, Hakon , Avila-Fernandez, Almudena , Corton, Marta and Ayuso, Carmen
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Inherited syndromic retinopathies are a highly heterogeneous group of diseases that involve retinal anomalies and systemic manifestations. They include retinal ciliopathies, other well-defined clinical syndromes presenting with retinal alterations and cases of non-specific multisystemic diseases. The heterogeneity of these conditions makes molecula...
Alternative Titles
Full title
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
Authors, Artists and Contributors
Author / Creator
R. J. da Silva, Luciana
Blanco-Kelly, Fiona
Zurita, Olga
Sanchez-Bolivar, Noelia
Villaverde, Cristina
Lopez-Molina, Maria Isabel
Garcia-Sandoval, Blanca
Tahsin-Swafiri, Saoud
Minguez, Pablo
Riveiro-Alvarez, Rosa
Lorda, Isabel
Sanchez-Alcudia, Rocío
Perez-Carro, Raquel
Valverde, Diana
Liu, Yichuan
Tian, Lifeng
Hakonarson, Hakon
Avila-Fernandez, Almudena
Corton, Marta
Ayuso, Carmen
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5869593
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5869593
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-018-23520-1
