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Items: 1 to 20 of 49

1.

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group.

Nat Genet. 2001 Aug;28(4):365-70.

PMID:
11479539
2.

Genetic basis of congenital generalized lipodystrophy.

Agarwal AK, Barnes RI, Garg A.

Int J Obes Relat Metab Disord. 2004 Feb;28(2):336-9. Review.

PMID:
14557833
3.

[Major insulin resistance syndromes: clinical and physiopathological aspects].

Vigouroux C, Magré J, Desbois-Mouthon C, Lascols O, Cherqui G, Caron M, Capeau J.

J Soc Biol. 2001;195(3):249-57. Review. French.

PMID:
11833462
4.

Function of seipin: new insights from Bscl2/seipin knockout mouse models.

Dollet L, Magré J, Cariou B, Prieur X.

Biochimie. 2014 Jan;96:166-72. doi: 10.1016/j.biochi.2013.06.022. Epub 2013 Jul 2. Review.

PMID:
23831461
5.

Diseases of adipose tissue: genetic and acquired lipodystrophies.

Capeau J, Magré J, Lascols O, Caron M, Béréziat V, Vigouroux C, Bastard JP.

Biochem Soc Trans. 2005 Nov;33(Pt 5):1073-7. Review.

PMID:
16246048
6.

Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).

Gomes KB, Pardini VC, Fernandes AP.

Clin Chim Acta. 2009 Apr;402(1-2):1-6. doi: 10.1016/j.cca.2008.12.032. Epub 2009 Jan 9. Review.

PMID:
19167372
7.

Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways.

Agarwal AK, Garg A.

Trends Endocrinol Metab. 2003 Jul;14(5):214-21. Review.

PMID:
12826327
8.

Seipinopathy: a novel endoplasmic reticulum stress-associated disease.

Ito D, Suzuki N.

Brain. 2009 Jan;132(Pt 1):8-15. doi: 10.1093/brain/awn216. Epub 2008 Sep 12. Review.

PMID:
18790819
9.

A-type lamin-linked lipodystrophies.

Vigouroux C, Capeau J.

Novartis Found Symp. 2005;264:166-77; discussion 177-82, 227-30. Review.

PMID:
15773753
10.
11.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
12.

The molecular basis of genetic lipodystrophies.

Bhayana S, Hegele RA.

Clin Biochem. 2002 May;35(3):171-7. Review.

PMID:
12074822
13.

Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome.

Hegele RA.

Trends Endocrinol Metab. 2003 Oct;14(8):371-7. Review.

PMID:
14516935
14.

Lipodystrophies.

Garg A.

Am J Med. 2000 Feb;108(2):143-52. Review.

PMID:
11126308
15.

Genetic basis of lipodystrophies and management of metabolic complications.

Agarwal AK, Garg A.

Annu Rev Med. 2006;57:297-311. Review.

PMID:
16409151
16.

Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome.

Hegele RA.

Mol Genet Metab. 2000 Dec;71(4):539-44. Review.

PMID:
11136544
17.

Towards a mechanistic understanding of lipodystrophy and seipin functions.

Wee K, Yang W, Sugii S, Han W.

Biosci Rep. 2014 Oct 2;34(5). pii: e00141. doi: 10.1042/BSR20140114. Review.

18.

Insulin resistance in human partial lipodystrophy.

Hegele RA.

Curr Atheroscler Rep. 2000 Sep;2(5):397-404. Review.

PMID:
11122771
19.

Molecular basis of partial lipodystrophy and prospects for therapy.

Hegele RA.

Trends Mol Med. 2001 Mar;7(3):121-6. Review.

PMID:
11286783
20.

Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.

Garg A.

J Clin Endocrinol Metab. 2011 Nov;96(11):3313-25. doi: 10.1210/jc.2011-1159. Epub 2011 Aug 24. Review.

PMID:
21865368

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