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Publicaciones

A new seipin-associated neurodegenerative syndrome
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations.
Congenital generalized lipodystrophy versus Berardinelli-Seip syndrome
Severe localized lipoatrophy related to therapy with insulin analogs in type 1a diabetes mellitus
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy.
Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism.
Prematurely aged children: molecular alterations leading to Hutchinson-Gilford progeria and Werner syndromes.
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.
A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy
Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation
LIPODYSTROPHIES: MOLECULAR BASIS AND CLINICAL FEATURES
Direcci贸n:
David Ara煤jo-Vilar, MD PhD
UETeM, Lab 3, 2潞 andar
CIMUS-Universidade de Santiago de Compostela
Avda Barcelona s/n
15707 Santiago de Compostela
Espa帽a
mail: lipodistrofias@gmail.com
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