359 related articles for article (PubMed ID: 19438831)
21. A study of congenital generalized lipodystrophy (CGL) caused by BSCL2 gene mutation.
Ye JY; Huang AJ; Fu ZZ; Gong YY; Yang HY; Zhou HW
Yi Chuan; 2022 Oct; 44(10):926-936. PubMed ID: 36384728
[TBL] [Abstract][Full Text] [Related]
22. Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome.
Dyment DA; Gibson WT; Huang L; Bassyouni H; Hegele RA; Innes AM
Eur J Med Genet; 2014 Sep; 57(9):524-6. PubMed ID: 24980513
[TBL] [Abstract][Full Text] [Related]
23. Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.
Chen R; Yuan X; Wang J; Zhang Y
Gene; 2017 Dec; 637():57-62. PubMed ID: 28916377
[TBL] [Abstract][Full Text] [Related]
24. Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the
Özalkak Ş; Demiral M; Ünal E; Taş FF; Onay H; Demirbilek H; Özbek MN
J Clin Res Pediatr Endocrinol; 2023 Aug; 15(3):329-333. PubMed ID: 35735786
[TBL] [Abstract][Full Text] [Related]
25. Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.
Simha V; Agarwal AK; Aronin PA; Iannaccone ST; Garg A
Am J Med Genet A; 2008 Sep; 146A(18):2318-26. PubMed ID: 18698612
[TBL] [Abstract][Full Text] [Related]
26. Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1.
Haghighi A; Razzaghy-Azar M; Talea A; Sadeghian M; Ellard S; Haghighi A
Eur J Med Genet; 2012 Nov; 55(11):620-4. PubMed ID: 22902344
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review.
Su X; Lin Y; Liu L; Mei H; Xu A; Zeng C; Sheng H; Cheng J; Shao Y; Zheng R; Ting TH; Zhang W; Li X
J Pediatr Endocrinol Metab; 2023 Jan; 36(1):74-80. PubMed ID: 36433712
[TBL] [Abstract][Full Text] [Related]
29. Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients.
Gomes KB; Pardini VC; Ferreira AC; Fernandes AP
J Inherit Metab Dis; 2005; 28(6):1123-31. PubMed ID: 16435205
[TBL] [Abstract][Full Text] [Related]
30. Heterozygous deletion of Seipin in islet beta cells of male mice has an impact on insulin synthesis and secretion through reduced PPARγ expression.
Xiong J; Sun P; Wang Y; Hua X; Song W; Wang Y; Wu J; Yu W; Liu G; Chen L
Diabetologia; 2020 Feb; 63(2):338-350. PubMed ID: 31776610
[TBL] [Abstract][Full Text] [Related]
31. Targeted massively parallel sequencing for congenital generalized lipodystrophy.
Costa-Riquetto AD; Santana LS; Caetano LA; Lerário AM; Correia-Deur JEM; Bertola DR; Kim CA; Nery M; Jorge AAL; Teles MG
Arch Endocrinol Metab; 2021 May; 64(5):559-566. PubMed ID: 34033296
[TBL] [Abstract][Full Text] [Related]
32. Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
Schuster J; Khan TN; Tariq M; Shaiq PA; Mäbert K; Baig SM; Klar J
BMC Med Genet; 2014 Jun; 15():71. PubMed ID: 24961962
[TBL] [Abstract][Full Text] [Related]
33. Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.
Fu M; Kazlauskaite R; Baracho Mde F; Santos MG; Brandão-Neto J; Villares S; Celi FS; Wajchenberg BL; Shuldiner AR
J Clin Endocrinol Metab; 2004 Jun; 89(6):2916-22. PubMed ID: 15181077
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. The neonatal onset diabetes mellitus of Chinese neonate with congenital generalized lipodystrophy 2: a case report.
Yang Y; Ma L; Sun J; Gong X; Cai C; Hong W
BMC Endocr Disord; 2022 Mar; 22(1):83. PubMed ID: 35351089
[TBL] [Abstract][Full Text] [Related]
37. Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel
Ceccarini G; Magno S; Pelosini C; Ferrari F; Sessa MR; Scabia G; Maffei M; Jéru I; Lascols O; Vigouroux C; Santini F
Front Endocrinol (Lausanne); 2020; 11():39. PubMed ID: 32117065
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophy.
Cui X; Wang Y; Meng L; Fei W; Deng J; Xu G; Peng X; Ju S; Zhang L; Liu G; Zhao L; Yang H
Am J Physiol Endocrinol Metab; 2012 Mar; 302(6):E705-13. PubMed ID: 22234369
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
