相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Diagnosis and treatment of lipodystrophy: a step-by-step approach
D. Araujo-Vilar et al.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2019)
Phenotypic diversity and glucocorticoid sensitivity in patients with familial partial lipodystrophy type 2
Ana Teresa Prata Resende et al.
CLINICAL ENDOCRINOLOGY (2019)
Altered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue browning
Camilla Pellegrini et al.
EXPERIMENTAL AND MOLECULAR MEDICINE (2019)
Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype-genotype correlation
M. Kwapich et al.
DIABETES & METABOLISM (2019)
Application of non-HDL cholesterol for population-based cardiovascular risk stratification: results from the Multinational Cardiovascular Risk Consortium
Fabian J. Brunner et al.
LANCET (2019)
Lipodystrophic laminopathies: Diagnostic clues
Cristina Guillin-Amarelle et al.
NUCLEUS (2018)
Determinants of Achieved LDL Cholesterol and Non-HDL Cholesterol in the Management of Dyslipidemias
Chris J. Packard
CURRENT CARDIOLOGY REPORTS (2018)
Lipodystrophic laminopathies: Diagnostic clues
Cristina Guillin-Amarelle et al.
NUCLEUS (2018)
Bone mineral density in familial partial lipodystrophy
Antia Fernandez-Pombo et al.
CLINICAL ENDOCRINOLOGY (2018)
Genetics of Lipodystrophy
Marissa Lightbourne et al.
ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA (2017)
Lipodystrophic laminopathy: Lamin A mutation relaxes chromatin architecture to impair adipogenesis
Eman Elzeneini et al.
JOURNAL OF CELL BIOLOGY (2017)
A lipodystrophy-causing lamin A mutant alters conformation and epigenetic regulation of the anti-adipogenic MIR335 locus
Anja Oldenburg et al.
JOURNAL OF CELL BIOLOGY (2017)
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy
Baris Akinci et al.
METABOLISM-CLINICAL AND EXPERIMENTAL (2017)
Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges
Elaine Chiquette et al.
Diabetes Metabolic Syndrome and Obesity-Targets and Therapy (2017)
Familial partial lipodystrophy presenting as metabolic syndrome
Darwin Chan et al.
JOURNAL OF CLINICAL LIPIDOLOGY (2016)
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations
D. Araujo-Vilar et al.
CLINICAL ENDOCRINOLOGY (2012)
Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations
Patricia B. Mory et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2012)
Nestor-Guillermo Progeria Syndrome: A Novel Premature Aging Condition With Early Onset and Chronic Development Caused by BANF1 Mutations
Ruben Cabanillas et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy
D. Araujo-Vilar et al.
JOURNAL OF MEDICAL GENETICS (2009)
A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy
David Araujo-Vilar et al.
CLINICAL ENDOCRINOLOGY (2008)
New metabolic phenotypes in laminopathies:: LMNA mutations in patients with severe metabolic syndrome
Aurélie Decaudain et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Nuclear lamins: Laminopathies and their role in premature ageing
J. L. V. Broers et al.
PHYSIOLOGICAL REVIEWS (2006)
Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene
DB Savage et al.
DIABETOLOGIA (2004)
Medical progress - Acquired and inherited lipodystrophies
A Garg
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Patients with familial partial lipodystrophy of the dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities
MC Vantyghem et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety
WA Haque et al.
DIABETES CARE (2003)
Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation
D Araujo-Vilar et al.
HORMONE AND METABOLIC RESEARCH (2003)
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene
A Garg et al.
AMERICAN JOURNAL OF MEDICINE (2002)
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
RA Speckman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
S Shackleton et al.
NATURE GENETICS (2000)