Genetic variants identified by target next-generation sequencing in heart transplant patients with dilated cardiomyopathy

Autor: Alexandra Sousa, Brenda Moura, Roberto Pinto, José Silva Cardoso, José Carlos Machado, Manuel Campelo, José Manuel Lopes, Sérgio Carvalho Leite, Elisabete Martins, Paulo Canedo, Sandra Amorim

Publikováno v: Revista Portuguesa de Cardiologia, Vol 38, Iss 6, Pp 441-447 (2019)
Revista Portuguesa de Cardiologia (English Edition), Vol 38, Iss 6, Pp 441-447 (2019)

Introduction and Objectives: Dilated cardiomyopathy (DCM) is a myocardial disease that can progress to a terminal stage, requiring heart transplantation. In this work we aim to contribute to knowledge of genetic variants in adult patients undergoing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a9bb647852e193a57702007f8400419
https://hdl.handle.net/10216/136215

A conserved splicing mechanism of the LMNA gene controls premature aging

Autor: Jamal Tazi, Isabelle Behm-Ansmant, José M.P. Freije, Claire Navarro, James Stévenin, Annachiara De Sandre-Giovannoli, Fernando G. Osorio, Isabel C. Lopez-Mejia, Cyril F. Bourgeois, Christiane Branlant, Nicolas Lévy, Carlos López-Otín, Valentin Vautrot, Marion de Toledo

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (23), pp.4540-4555. ⟨10.1093/hmg/ddr385⟩
Human Molecular Genetics, 2011, 20 (23), pp.4540-4555. ⟨10.1093/hmg/ddr385⟩
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (23), pp.4540--55. ⟨10.1093/hmg/ddr385⟩

International audience; Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder phenotypically characterized by many features of premature aging. Most cases of HGPS are due to a heterozygous silent mutation (c.1824C\textgreaterT; p.Gly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07d814b0799cc4a5ebd703c809c3ce67
https://doi.org/10.1093/hmg/ddr385

A Case of Familial Partial Lipodystrophy: From Clinical Phenotype to Genetics

Autor: Julien Vouillarmet, Martine Laville

Publikováno v: Canadian Journal of Diabetes
Canadian Journal of Diabetes, Canadian Diabetes Association, 2016, 40 (5), pp.376-378. ⟨10.1016/j.jcjd.2015.12.007⟩

International audience; We discuss the case of a 56-year-old woman who presented with diabetes from the age of 24. The diagnosis of familial partial lipodystrophy was made after the discovery of the lamin A/C gene 20 years later. The diagnosis enable

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfd7a38f06ffc8edbce3c00719205b1b
https://hal.archives-ouvertes.fr/hal-01850034

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Autor: Denise Ferrera, Daniele Imperiale, Alessandro Brussino, Claudio Canale, Stylianos E. Antonarakis, Daniel Robyr, Enza Ferrero, Cristiana Atzori, Laura Gasparini, Eleonora Di Gregorio, Alfredo Brusco, Len A. Pennacchio, Malte Spielmann, Elisa Giorgio, Federico Santoni, Georgios Stamoulis, Giovanna Vaula, Michel Guipponi

Publikováno v: Hum Mol Genet, vol. 24, no. 11, pp. 3143-54
Human Molecular Genetics, Vol. 24, No 11 (2015) pp. 3143-3154
HUMAN MOLECULAR GENETICS
Human Molecular Genetics

Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous sys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35794163a10af9647c00b5781d9b50d6
https://serval.unil.ch/notice/serval:BIB_683F5A0EB797

Estudo clínico, histológico e molecular de crianças com distrofia muscular congênita por deficiência de lamina A/C

Autor: Livia Meirelles de Araujo Pasqualin

Publikováno v: Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.

Introdução: As Distrofias Musculares Congênitas (DMCs) são um grupo clínica e geneticamente heterogêneo de doenças musculares que se manifestam ao nascimento ou no primeiro ano de vida, sendo caracterizadas por hipotonia, fraqueza muscular, re

Externí odkaz: http://www.teses.usp.br/teses/disponiveis/5/5138/tde-14102013-123033/