Results 181 to 190 of about 22,553 (288)

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease [PDF]

, 2008
Dimitri Renard, G. Fourcade, Didier Milhaud, D. Bessis, Vera Esteves‐Vieira, Amandine Boyer, Patrice Roll, Patrice Bourgeois, Nicolas Lévy, Annachiara De Sandre‐Giovannoli   +9 more
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遺伝子変異による先天性筋線維タイプ不均等症に関する検討 [PDF]

, 2013
博士（医学） 甲第566号（主論文の要旨、要約）博士（医学 ...
梶野 幸子
core   +1 more source

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations

, 2003
Pascale Sébillon
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Novel LMNA Gene Mutation in a Patient With Atypical Werner's Syndrome [PDF]

, 2009
Yun Jeong Doh, Hee Kyoung Kim, Eui Dal Jung, Seung Hee Choi, Jung Guk Kim, Bo Wan Kim, In Kyu Lee   +6 more
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Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations [PDF]

, 2009
Abhimanyu Garg, Lalitha Subramanyam, Anil K. Agarwal, Vinaya Simha, Benjamin D. Levine, Maria Rosaria D’Apice, Giuseppe Novelli, Yanick J. Crow   +7 more
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Analysis of Genetic Variations of Lamin A/C Gene (LMNA) by Denaturing High-Performance Liquid Chromatography

, 2004
Matthew R. Taylor, Misi L. Robinson, Luisa Mestroni   +2 more
openalex   +1 more source

A conserved splicing mechanism of the LMNA gene controls premature aging [PDF]

, 2011
Isabel C. López‐Mejía, Valentin Vautrot, Marion de Toledo, Isabelle Behm‐Ansmant, Cyril F. Bourgeois, Claire Navarro, Fernando G. Osorio, José M.P. Freije, James Stévenin, Annachiara De Sandre‐Giovannoli, Carlos López-Otı́n, Nicolas Lévy, Christiane Branlant, Jamal Tazi   +13 more
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LMNA Mutations Induce a Non-Inflammatory Fibrosis and a Brown Fat-Like Dystrophy of Enlarged Cervical Adipose Tissue [PDF]

, 2011
Véronique Béréziat, Pascale Cervera, Caroline Le Dour, Marie‐Christine Verpont, Sylvie Dumont, Marie‐Christine Vantyghem, Jacqueline Capeau, Corinne Vigouroux   +7 more
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Complex phenotype linked to a mutation in exon 11 of the lamin A/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes

Revista Portuguesa de Cardiologia, 2017
The lamin A/C (LMNA) gene encodes lamins A and C, which have an important role in nuclear cohesion and chromatin organization. Mutations in this gene usually lead to the so-called laminopathies, the primary cardiac manifestations of which are dilated ...
Ana Rita G. Francisco, Inês Santos Gonçalves, Fátima Veiga, Mónica Mendes Pedro, Fausto J. Pinto, Dulce Brito   +5 more
doaj  

A homozygousZMPSTE24null mutation in combination with a heterozygous mutation in theLMNAgene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS

, 2006
Jonas Denecke, Thomas Brune, Tobias Feldhaus, Horst Robenek, Christian Kranz, Richard J. Auchus, Anil K. Agarwal, Thorsten Marquardt   +7 more
openalex   +1 more source