315 related articles for article (PubMed ID: 19041432)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Berardinelli-Seip congenital lipodystrophy.
Mandal K; Aneja S; Seth A; Khan A
Indian Pediatr; 2006 May; 43(5):440-5. PubMed ID: 16735770
[TBL] [Abstract][Full Text] [Related]
8. Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings.
Raygada M; Rennert O
Clin Genet; 2005 Jan; 67(1):98-101. PubMed ID: 15617555
[TBL] [Abstract][Full Text] [Related]
9. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Magré J; Delépine M; Khallouf E; Gedde-Dahl T; 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;
Nat Genet; 2001 Aug; 28(4):365-70. PubMed ID: 11479539
[TBL] [Abstract][Full Text] [Related]
10. Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus.
Jin J; Cao L; Zhao Z; Shen S; Kiess W; Zhi D; Ye R; Cheng R; Chen L; Yang Y; Luo F
Eur J Endocrinol; 2007 Dec; 157(6):783-7. PubMed ID: 18057387
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.
Liu Y; Li D; Ding Y; Kang L; Jin Y; Song J; Li H; Yang Y
Eur J Med Genet; 2019 Sep; 62(9):103542. PubMed ID: 30266686
[TBL] [Abstract][Full Text] [Related]
13. Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.
Ren M; Shi J; Jia J; Guo Y; Ni X; Shi T
Orphanet J Rare Dis; 2020 Apr; 15(1):108. PubMed ID: 32349771
[TBL] [Abstract][Full Text] [Related]
14. Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy.
Zhou H; Lei X; Yan Y; Lydic T; Li J; Weintraub NL; Su H; Chen W
JCI Insight; 2019 Jun; 5(14):. PubMed ID: 31185001
[TBL] [Abstract][Full Text] [Related]
15. Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency.
Antuna-Puente B; Boutet E; Vigouroux C; Lascols O; Slama L; Caron-Debarle M; Khallouf E; Lévy-Marchal C; Capeau J; Bastard JP; Magré J
J Clin Endocrinol Metab; 2010 Mar; 95(3):1463-8. PubMed ID: 20097706
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.
Rahman OU; Khawar N; Khan MA; Ahmed J; Khattak K; Al-Aama JY; Naeem M; Jelani M
Diagn Pathol; 2013 May; 8():78. PubMed ID: 23659685
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.
Gomes KB; Fernandes AP; Ferreira AC; Pardini H; Garg A; Magré J; Pardini VC
J Clin Endocrinol Metab; 2004 Jan; 89(1):357-61. PubMed ID: 14715872
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
