Results 101 to 110 of about 8,751 (233)

Statistical Test of Expression Pattern (STEPath): a new strategy to integrate gene expression data with genomic information in individual and meta-analysis studies [PDF]

, 2011
Background In the last decades, microarray technology has spread, leading to a dramatic increase of publicly available datasets. The first statistical tools developed were focused on the identification of significant differentially expressed genes. Later,
Paolo Martini, Davide Risso, Gabriele Sales, Chiara Romualdi, Gerolamo Lanfranchi, Stefano Cagnin   +5 more
core   +1 more source

Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies.

International Heart Journal, 2019
Emery-Dreifuss muscular dystrophy (EDMD) is a group of hereditary muscular dystrophy syndrome caused by deficiency of genes encoding nuclear envelope proteins.
Shuai Wang, Daoquan Peng
semanticscholar   +1 more source

Motor function evaluation in merosin-deficient congenital muscular dystrophy children [PDF]

, 2005
Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Almost 50% of the cases are caused by primary deficiency of a protein named merosin (MD), and present a homogenous phenotype
Beteta, Javier Toledano, Fernandes, Antônio Carlos, Luz, Fernanda H. Gianini, Oliveira, Acary Souza Bulle, Rocco, Fernanda M., Rossato, Alexsander Junquera, Zanoteli, Edmar   +6 more
core   +3 more sources

Evaluation of Genetic Causes of Cardiomyopathy in Childhood [PDF]

, 2015
Cardiomyopathy frequently has a genetic basis. In adults, mutations in genes encoding components of the sarcomere, cytoskeleton, or desmosome are frequent genetic causes of cardiomyopathy.
Ware, Stephanie M.
core   +1 more source

The empowerment of translational research: lessons from laminopathies

Orphanet Journal of Rare Diseases, 2012
The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009.
Benedetti Sara, Bernasconi Pia, Bertini Enrico, Biagini Elena, Boriani Giuseppe, Capanni Cristina, Carboni Nicola, Cenacchi Giovanna, Columbaro Marta, D'Adamo Monica, D’Amico Adele, D’Apice Maria, Fontana Marianna, Gambineri Alessandra, Lattanzi Giovanna, Liguori Rocco, Maraldi Nadir M, Mazzanti Laura, Mercuri Eugenio, Mongini Tiziana, Morandi Lucia O, Neri Iria, Nigro Giovanni, Novelli Giuseppe, Ortolani Michela, Pasquali Renato, Pini Antonella, Petrini Stefania, Politano Luisa, Previtali Stefano, Pucci Lisa, Rapezzi Claudio, Ricci Giulia, Rodolico Carmelo, Sbraccia Paolo, Scarano Emanuela, Siciliano Gabriele, Squarzoni Stefano, Toscano Antonio, Vercelli Liliana, Ziacchi Matteo   +40 more
doaj   +1 more source

Sleep hypoventilation [PDF]

, 2010
Sleep hypoventilation is seen in patients with neuromuscular disease, as well as in those with obesity hypoventilation syndrome (OHS), which is defined as the combination of obesity, chronic hypercapnia, and hypoxemia during wakefulness that is ...
Fontes, Francisco Hora, Togeiro, Sonia Maria [UNIFESP]   +1 more
core   +2 more sources

Report of 3 Cases of Emery-Dreifuss Muscular Dystrophy in a Family

پزشکی بالینی ابن سینا, 2004
Emery-Dreifuss muscular dystrophy (EDMD)can be seen in the middle childhood and the genetic patterns of them are X-linked recessive, autosomal dominant or recessive.
Parviz Yazdanpanah, Abdolrasool Javan, Behdad Nadimi, Mehrdad Rezaei, Behrouz Yazdanpanah, Hamdollah Delaviz   +5 more
doaj  

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

Annals of the Child Neurology Society
Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities ...
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes   +7 more
doaj   +1 more source

Loss-of-function genetic diseases and the concept of pharmaceutical targets [PDF]

, 2007
The biomedical world relies heavily on the definition of pharmaceutical targets as an essential step in the drug design process. It is therefore tempting to apply this model to genetic diseases as well.
Laurent Ségalat, MA Lindsay, RR Brinkman, F Sams-Dood, F Sams-Dood, M Ceccarelli, V Dubowitz, TA Rando, G Meister, C Eggert, P Rustin   +10 more
core   +5 more sources

Emery-Dreifuss Muscular Dystrophy

Clinical characteristics Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest ...
Bonne, Gisèle, Leturcq, France, Yaou, Rabah   +2 more
openaire   +2 more sources