Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

Authors: Laura Alías, Jaume Crespi, Lidia González-Quereda, Jesús Téllez, Elisabeth Martínez, Sara Bernal, Ma Pia Gallano

Source: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)

Subject Terms: Microspherophakia, LTBP2 gene, NGS, Clinical exome sequencing, TruSight one sequencing panel, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0590-0; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/0ba1061a7f2143d599f17183535b4dd9

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Authors: Jonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, Edgard Verdura, Kira Lázaro, Cristina Jou, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Jaume Colomer, Soledad Monges, Fabiana Lubieniecki, Maria Eugenia Foncuberta, Samuel Ignacio Pascual-Pascual, Jesús Molano, Montserrat Baiget, Pia Gallano

Source: PLoS ONE, Vol 8, Iss 3, p e59916 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3607557?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/01f25a8e27ed4e2ab08cfcd4aa96e734

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness

Authors: Laura Alías, Miguel López de Heredia, Sabina Luna, Núria Clivillé, Lídia González-Quereda, Pía Gallano, Júlia de Juan, Albert Pujol, Santiago Diez, Susana Boronat, César Orús, Adriana Lasa, María del Prado Venegas

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: WFS1 gene, congenital hearing loss, NGS, Wolfram-like syndrome, optic atrophy, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.998898/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/07967e7b974044478f2e4457b6a25004

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DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

Authors: Jonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Manel Baena, Edgard Verdura, Andres Nascimento, Carlos Ortez, Montserrat Baiget, Pia Gallano

Source: PLoS ONE, Vol 10, Iss 8, p e0135189 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4540588?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/1b1eb347881b4fc1be05851da8e1216e

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

Authors: Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa

Source: PLoS ONE, Vol 6, Iss 12, p e29061 (2011)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22194990/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/a2790daf220b462ebf310415059896be