Detalhe da pesquisa
1.
Novel genes and sex differences in COVID-19 severity.
Hum Mol Genet
; 31(22): 3789-3806, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35708486
2.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
J Med Genet
; 60(6): 557-567, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270769
3.
Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans.
Liver Int
; 43(8): 1822-1836, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37312667
4.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35232796
5.
Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1.
Int J Mol Sci
; 24(2)2023 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36674476
6.
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.
J Med Genet
; 57(10): 677-682, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32170005
7.
Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia.
Hum Mutat
; 40(8): 1181-1190, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31106925
8.
[Genomic newborn screening. Perspective from the Ethics commission of the Spanish Society for Human Genetics. Part I. Next generation sequencing technologies applied to newborn screening. Challenges and opportunities.] / Cribado neonatal genómico. Perspectiva de la Comisión de ética de la Asociación Española de Genética Humana. Parte I. Las tecnologías de secuenciación masiva (NGS) y su aplicación al cribado neonatal. Desafíos y oportunidades.
Rev Esp Salud Publica
; 962022 Feb 04.
Artigo
em Espanhol
| MEDLINE | ID: mdl-35115483
9.
[Genomic newborn screening. Perspective from the Ethics Commission of the Spanish Society for Human Genetics. Part II: Ethical, legal and social issues (ELSIs) of the introduction of next generation sequencing technologies in a public health newborn screening program.] / Cribado neonatal genómico. Perspectiva de la Comisión de ética de la Asociación Española de Genética Humana. Parte II: Aspectos Éticos, Legales y Sociales (AELS) de la Introducción de las Tecnologías de Secuenciación Masiva (NGS) en un programa de cribado neonatal de Salud Pública.
Rev Esp Salud Publica
; 962022 Mar 14.
Artigo
em Espanhol
| MEDLINE | ID: mdl-35283479
10.
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
Front Genet
; 13: 993064, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36246631
11.
[Half a century of newborn screening in Spain: Evolution of ethical, legal and social issues (ELSIs). Part III, social issues.] / Medio siglo de cribado neonatal en España: evolución de los aspectos éticos, legales y sociales (AELS). Parte III, aspectos sociales.
Rev Esp Salud Publica
; 952021 Jan 26.
Artigo
em Espanhol
| MEDLINE | ID: mdl-33496273
12.
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.
Cancers (Basel)
; 13(4)2021 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33672345
13.
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing.
Clin Transl Gastroenterol
; 10(10): e00100, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31663907
14.
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.
Eur J Hum Genet
; 26(7): 1014-1025, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29511324
15.
Tetraploidy acute myeloid leukaemia after chromosome 16 inversion.
BMJ Case Rep
; 20172017 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28331025
16.
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
PLoS One
; 12(8): e0181465, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771489
17.
Directed to consumer genetic testing. Perspective from the Ethics commission of the Spanish Society for Human Genetics. / Pruebas genéticas de venta directa a los consumidores. Perspectiva de la Comisión de Ética de la Asociación Española de Genética Humana.
Med Clin (Barc)
; 153(1): 35-40, 2019 07 05.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-30898448
18.
Phenotypic variability in Marfan syndrome in a family with a novel nonsense FBN1 gene mutation.
Rev Esp Cardiol (Engl Ed)
; 65(4): 380-1, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21840105