173 related articles for article (PubMed ID: 31416577)
21. 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]
22. 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]
23. 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]
24. Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome.
Pelosini C; Martinelli S; Bagattini B; Pucci E; Fierabracci P; Scartabelli G; Salvetti G; Vitti P; Maffei M; Pinchera A; Santini F
Acta Diabetol; 2011 Sep; 48(3):243-6. PubMed ID: 21744063
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Case report: Dental management of Berardinelli-Seip congenital lipodystrophy.
Bhujel N; Clark H
Eur Arch Paediatr Dent; 2016 Apr; 17(2):137-40. PubMed ID: 26573975
[TBL] [Abstract][Full Text] [Related]
27. Berardinelli-Seip Congenital Lipodystrophy Discovered Following a STEMI Event.
Beires F; Greenfield H; Brito da Silva J; Gil J; Moreno N
Eur J Case Rep Intern Med; 2022; 9(12):003658. PubMed ID: 36632537
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Ferranti S; Lo Rizzo C; Renieri A; Galluzzi P; Grosso S
Neurol Sci; 2020 Nov; 41(11):3345-3348. PubMed ID: 32440981
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
Purizaca-Rosillo N; Mori T; Benites-Cóndor Y; Hisama FM; Martin GM; Oshima J
Am J Med Genet A; 2017 Feb; 173(2):471-478. PubMed ID: 27868354
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.
Shastry S; Delgado MR; Dirik E; Turkmen M; Agarwal AK; Garg A
Am J Med Genet A; 2010 Sep; 152A(9):2245-53. PubMed ID: 20684003
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.
Jelani M; Ahmed S; Almramhi MM; Mohamoud HS; Bakur K; Anshasi W; Wang J; Al-Aama JY
Eur J Med Genet; 2015 Apr; 58(4):216-21. PubMed ID: 25721873
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. 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]
39. 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]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
