Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Patricia Muñoz-Cabello"'
Autor:
Eulàlia Rovira-Moreno, Anna Abulí, Patricia Muñoz-Cabello, Marta Codina-Solà, Eva Baillès, Mencía de Lemus, Basil T. Darras, Eduardo F. Tizzano
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100825- (2023)
Spinal muscular atrophy (SMA) is a prevalent severe genetic condition that follows an autosomal recessive inheritance pattern. Over the last decade, advances in innovative therapies have improved the course of the disease for many patients. There is
Externí odkaz:
https://doaj.org/article/f8742aa22bde4db0a7bae2b364dd1ee9
Autor:
Juan Luis Restrepo-Vera, Patricia Muñoz-Cabello, Jordi Pérez-Rodon, Eulàlia Rovira-Moreno, Marta Codina-Solà, Arnau Llauradó, Maria Salvadó, Daniel Sánchez-Tejerina, Javier Sotoca, Elena Martínez-Sáez, Elena García-Arumí, Raul Juntas-Morales
Publikováno v:
Neuromuscular Disorders. 33:463-467
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::343f08cb3be815379cbca4ff2405e04e
https://doi.org/10.1016/j.nmd.2023.02.010
https://doi.org/10.1016/j.nmd.2023.02.010
Autor:
Marta Codina-Solà, Laura Trujillano, Anna Abulí, Eulàlia Rovira-Moreno, Patricia Muñoz-Cabello, Berta Campos, Paula Fernández-Álvarez, Dolors Palau, Estela Carrasco, Irene Valenzuela, Anna Maria. Cueto-González, Amaia Lasa-Aranzasti, Javier Limeres, Jordi Leno-Colorado, Mar Costa-Roger, Alejandro Moles-Fernández, Judith Balmaña, Orland Díez, Ivon Cuscó, Elena Garcia-Arumí, Eduardo Fidel Tizzano
Publikováno v:
European Journal of Human Genetics. 31:223-230
Clinical exome sequencing has the potential to identify pathogenic variants unrelated to the purpose of the study (secondary findings, SFs). Data describing actual choices of SFs in participants in a clinical setting and factors influencing their dec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd06709fa3180f7d1f259fd866df2a46
https://doi.org/10.1038/s41431-022-01240-5
https://doi.org/10.1038/s41431-022-01240-5
Autor:
Anne Guimier, Loïc de Pontual, Stephen R Braddock, Erin Torti, Luis A Pérez-Jurado, Patricia Muñoz-Cabello, Montserrat Arumí, Kristin G Monaghan, Hane Lee, Lee-kai Wang, Ilina D Pluym, Sally Ann Lynch, Karen Stals, Sian Ellard, Cécile Muller, Lucile Houyel, Laurence Cohen, Stanislas Lyonnet, Fanny Bajolle, Jeanne Amiel, Christopher T Gordon
Publikováno v:
Human Molecular Genetics. 32:353-356
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::877008e6ce5744ec1c1ceaee829ea0d9
https://doi.org/10.1093/hmg/ddac084
https://doi.org/10.1093/hmg/ddac084
Autor:
Eduardo Ortega Castelló, Lorenzo Fernández Franco, Roser Lleuger-Pujol, Patricia Muñoz Cabello, Manuel Espinel Vallejo, Sixto García-Miñaur, Fernando Santos Simarro, Marion McAllister
Publikováno v:
Journal of genetic counselingREFERENCES. 31(1)
Evaluation of clinical genetic services is challenging due to the nature of their interventions. The Genetic Counseling Outcome Scale (GCOS-24), a patient-reported outcome measure, was developed to measure empowerment, an important patient-reported o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49dfed3ec905dff04539e9a7cac3d267
https://pubmed.ncbi.nlm.nih.gov/34218491
https://pubmed.ncbi.nlm.nih.gov/34218491
Autor:
Elena Vallespín, Ana Belén Enguita Valls, Pablo Lapunzina, Marta Ortega, Luis García-Guereta, Laura Casamayor Polo, Elena Ruiz-Bravo, Sixto García-Miñaúr, Patricia Muñoz-Cabello, María Bravo García-Morato, Lara Rodriguez-Laguna, Luis Fernández, María Palomares-Bralo, Rubén Martín-Arenas, Kristina Ibáñez, Angela del Pozo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7fb174461530e9b0eaa76afa30c01ef3
https://doi.org/10.1111/cge.13884/v2/response1
https://doi.org/10.1111/cge.13884/v2/response1
Autor:
Elena Vallespín, Luis García-Guereta, Lara Rodriguez-Laguna, Luis Fernández, María Bravo García-Morato, Kristina Ibáñez, Laura Casamayor Polo, Pablo Lapunzina, Elena Ruiz-Bravo, Sixto García-Miñaur, Marta Ortega, Patricia Muñoz-Cabello, Angela del Pozo, Ana Belén Enguita Valls, Rubén Martín-Arenas, María Palomares-Bralo
Publikováno v:
Clinical geneticsREFERENCES. 99(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940046055e508f6b5def7177b7b9cfcc
https://pubmed.ncbi.nlm.nih.gov/33226119
https://pubmed.ncbi.nlm.nih.gov/33226119
Autor:
Marion McAllister, Lorenzo Fernández-Franco, Pablo Lapunzina-Badía, Fernando Santos-Simarro, Alexandra Stephens, Patricia Muñoz-Cabello, Sixto García-Miñaur, Manuel Eliecer Espinel-Vallejo
The aim in this study was to translate and cross-culturally adapt the Genetic Counseling Outcome Scale (GCOS-24) for use in Spain and to carry out a preliminary psychometric validation in a sample of Spanish patients. With oversight by an expert pane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::132153e75f08f87d2cd6f52576d03a8e
https://orca.cardiff.ac.uk/id/eprint/105568/1/FinalSubmittedManuscript.pdf
https://orca.cardiff.ac.uk/id/eprint/105568/1/FinalSubmittedManuscript.pdf