230 related articles for article (PubMed ID: 19026526)
1. [Congenital generalized lipodystrophy: a case report with neurological involvement].
Ben Turkia H; Tebib N; Azzouz H; Abdelmoula MS; Ben Chehida A; Hubert P; Douira W; Ben Dridi MF
Arch Pediatr; 2009 Jan; 16(1):27-31. PubMed ID: 19026526
[TBL] [Abstract][Full Text] [Related]
2. A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene.
Huang HH; Chen TH; Hsiao HP; Huang CT; Wang CC; Shiau YH; Chao MC
Kaohsiung J Med Sci; 2010 Nov; 26(11):615-20. PubMed ID: 21126715
[TBL] [Abstract][Full Text] [Related]
3. Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.
Friguls B; Coroleu W; del Alcazar R; Hilbert P; Van Maldergem L; Pintos-Morell G
Eur J Med Genet; 2009; 52(1):14-6. PubMed ID: 19041432
[TBL] [Abstract][Full Text] [Related]
4. Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.
Miranda DM; Wajchenberg BL; Calsolari MR; Aguiar MJ; Silva JM; Ribeiro MG; Fonseca C; Amaral D; Boson WL; Resende BA; De Marco L
Clin Endocrinol (Oxf); 2009 Oct; 71(4):512-7. PubMed ID: 19226263
[TBL] [Abstract][Full Text] [Related]
5. Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.
Boutet E; El Mourabit H; Prot M; Nemani M; Khallouf E; Colard O; Maurice M; Durand-Schneider AM; Chrétien Y; Grès S; Wolf C; Saulnier-Blache JS; Capeau J; Magré J
Biochimie; 2009 Jun; 91(6):796-803. PubMed ID: 19278620
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19167372
[TBL] [Abstract][Full Text] [Related]
7. Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.
Nishiyama A; Yagi M; Awano H; Okizuka Y; Maeda T; Yoshida S; Takeshima Y; Matsuo M
Pediatr Int; 2009 Dec; 51(6):775-9. PubMed ID: 19438831
[TBL] [Abstract][Full Text] [Related]
8. Congenital generalized lipodystrophy in a 4 year old Chinese girl.
Dong G; Liang L; Zou C
Indian Pediatr; 2005 Oct; 42(10):1036-8. PubMed ID: 16269843
[TBL] [Abstract][Full Text] [Related]
9. Early course of Berardinelli-Seip congenital lipodystrophy (BSCL).
Eltermann T; Menendez-Castro C; Kienzle HP; Wössner R; Thomas W
Klin Padiatr; 2010 Sep; 222(5):308-9. PubMed ID: 20301053
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes.
Simha V; Garg A
J Clin Endocrinol Metab; 2003 Nov; 88(11):5433-7. PubMed ID: 14602785
[TBL] [Abstract][Full Text] [Related]
11. Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy.
Victoria B; Cabezas-Agrícola JM; González-Méndez B; Lattanzi G; Del Coco R; Loidi L; Barreiro F; Calvo C; Lado-Abeal J; Araújo-Vilar D
Diabet Med; 2010 Oct; 27(10):1178-87. PubMed ID: 20854387
[TBL] [Abstract][Full Text] [Related]
12. Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
Akinci B; Onay H; Demir T; Ozen S; Kayserili H; Akinci G; Nur B; Tuysuz B; Nuri Ozbek M; Gungor A; Yildirim Simsir I; Altay C; Demir L; Simsek E; Atmaca M; Topaloglu H; Bilen H; Atmaca H; Atik T; Cavdar U; Altunoglu U; Aslanger A; Mihci E; Secil M; Saygili F; Comlekci A; Garg A
J Clin Endocrinol Metab; 2016 Jul; 101(7):2759-67. PubMed ID: 27144933
[TBL] [Abstract][Full Text] [Related]
13. Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil.
Gomes KB; Pardini VC; Ferreira AC; Fonseca CG; Fernandes AP
Ann Hum Genet; 2007 Nov; 71(Pt 6):729-34. PubMed ID: 17535271
[TBL] [Abstract][Full Text] [Related]
14. AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.
Rostami P; Nakhaeimoghadam M; Bijani FM; Sotoudeh A; Rabbani A; Hilbert P; Rezaei N
Ann Endocrinol (Paris); 2013 Feb; 74(1):59-61. PubMed ID: 23337016
[TBL] [Abstract][Full Text] [Related]
15. Genetic basis of congenital generalized lipodystrophy.
Agarwal AK; Barnes RI; Garg A
Int J Obes Relat Metab Disord; 2004 Feb; 28(2):336-9. PubMed ID: 14557833
[TBL] [Abstract][Full Text] [Related]
16. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
Agarwal AK; Arioglu E; De Almeida S; Akkoc N; Taylor SI; Bowcock AM; Barnes RI; Garg A
Nat Genet; 2002 May; 31(1):21-3. PubMed ID: 11967537
[TBL] [Abstract][Full Text] [Related]
17. Seipin ablation in mice results in severe generalized lipodystrophy.
Cui X; Wang Y; Tang Y; Liu Y; Zhao L; Deng J; Xu G; Peng X; Ju S; Liu G; Yang H
Hum Mol Genet; 2011 Aug; 20(15):3022-30. PubMed ID: 21551454
[TBL] [Abstract][Full Text] [Related]
18. Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.
Ebihara K; Kusakabe T; Masuzaki H; Kobayashi N; Tanaka T; Chusho H; Miyanaga F; Miyazawa T; Hayashi T; Hosoda K; Ogawa Y; Nakao K
J Clin Endocrinol Metab; 2004 May; 89(5):2360-4. PubMed ID: 15126564
[TBL] [Abstract][Full Text] [Related]
19. Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy.
Haque W; Garg A; Agarwal AK
Biochem Biophys Res Commun; 2005 Feb; 327(2):446-53. PubMed ID: 15629135
[TBL] [Abstract][Full Text] [Related]
20. Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
Ito D; Suzuki N
Brain; 2009 Jan; 132(Pt 1):8-15. PubMed ID: 18790819
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
