Found: 22
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Prevalence of mutations in AGPAT2 among human lipodystrophies.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Dominant transmission of insulin resistance in a type A family resulting from a heterozygous nonsense mutation in the insulin receptor gene and associated with decreased mRNA level and insulin binding sites.
- Published in:
- 1997
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- Publication type:
- journal article
In vitro studies of insulin resistance in patients with lipoatrophic diabetes. Evidence for heterogeneous postbinding defects.
- Published in:
- 1988
- By:
- Publication type:
- journal article
Congenital Lipodystrophies and Dyslipidemias.
- Published in:
- Current Atherosclerosis Reports, 2014, v. 16, n. 9, p. 1, doi. 10.1007/s11883-014-0437-x
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- Publication type:
- Article
The Sodium-Glucose Cotransporter 2 Inhibitor Dapagliflozin Prevents Cardiomyopathy in a Diabetic Lipodystrophic Mouse Model.
- Published in:
- 2017
- By:
- Publication type:
- journal article
FGF21 Improves the Adipocyte Dysfunction Related to Seipin Deficiency.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Seipin Deficiency as a Model of Severe Adipocyte Dysfunction: Lessons from Rodent Models and Teaching for Human Disease.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 2, p. 740, doi. 10.3390/ijms23020740
- By:
- Publication type:
- Article
Chronic O-GlcNAcylation and Diabetic Cardiomyopathy: The Bitterness of Glucose.
- Published in:
- Frontiers in Endocrinology, 2018, p. N.PAG, doi. 10.3389/fendo.2018.00642
- By:
- Publication type:
- Article
Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.
- Published in:
- European Journal of Endocrinology, 2021, v. 185, n. 6, p. 841, doi. 10.1530/EJE-21-0915
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- Publication type:
- Article
Not Enough Fat: Mouse Models of Inherited Lipodystrophy.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.785819
- By:
- Publication type:
- Article
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
- Published in:
- EMBO Molecular Medicine, 2009, v. 1, n. 5, p. 280, doi. 10.1002/emmm.200900037
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- Publication type:
- Article
Identification of the gene altered in Berardinelli?Seip congenital lipodystrophy on chromosome 11q13.
- Published in:
- Nature Genetics, 2001, v. 28, n. 4, p. 365
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- Publication type:
- Article
Higher Adiponectin Levels in Patients with Berardinelli-Seip Congenital Lipodystrophy due to Seipin as compared with 1-Acylglycerol-3-Phosphate-O-Acyltransferase-2 Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 3, p. 1463, doi. 10.1210/jc.2009-1824
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- Publication type:
- Article
Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 4, p. 1129, doi. 10.1210/jc.2007-1328
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- Publication type:
- Article
Mutations in the Seipin and AGPAT2 Genes Clustering in Consanguineous Families with Berardinelli-Seip Congenital Lipodystrophy from Two Separate Geographical Regions of Brazil.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 1, p. 357, doi. 10.1210/jc.2003-030415
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- Publication type:
- Article
Leptin therapy for partial lipodystrophy linked to a PPAR-γ mutation.
- Published in:
- Clinical Endocrinology, 2008, v. 68, n. 4, p. 547, doi. 10.1111/j.1365-2265.2007.03095.x
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- Publication type:
- Article
Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Correction to: Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
- Published in:
- European Journal of Pediatrics, 2015, v. 174, n. 7, p. 975, doi. 10.1007/s00431-015-2556-y
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- Publication type:
- Article
Detection of sequence variations in the human insulin-receptor gene by parallel denaturing gradient gel electrophoresis.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 395, doi. 10.1002/humu.1380020512
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- Publication type:
- Article
Seipin regulates ER-lipid droplet contacts and cargo delivery.
- Published in:
- EMBO Journal, 2016, v. 35, n. 24, p. 2699, doi. 10.15252/embj.201695170
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- Publication type:
- Article