141 related articles for article (PubMed ID: 21744063)
1. 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]
2. 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]
3. A Patient with Berardinelli-Seip Syndrome, Novel
Oswiecimska J; Dawidziuk M; Gambin T; Ziora K; Marek M; Rzonca S; Guilbride DL; Jhangiani SN; Obuchowicz A; Sikora A; Lupski JR; Wiszniewski W; Gawlinski P
J Clin Res Pediatr Endocrinol; 2019 Sep; 11(3):319-326. PubMed ID: 30563316
[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. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
Agarwal AK; Simha V; Oral EA; Moran SA; Gorden P; O'Rahilly S; Zaidi Z; Gurakan F; Arslanian SA; Klar A; Ricker A; White NH; Bindl L; Herbst K; Kennel K; Patel SB; Al-Gazali L; Garg A
J Clin Endocrinol Metab; 2003 Oct; 88(10):4840-7. PubMed ID: 14557463
[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. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
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. 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]
17. 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]
18. 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]
19. The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.
Craveiro Sarmento AS; Ferreira LC; Lima JG; de Azevedo Medeiros LB; Barbosa Cunha PT; Agnez-Lima LF; Galvão Ururahy MA; de Melo Campos JTA
Mutat Res Rev Mutat Res; 2019; 781():30-52. PubMed ID: 31416577
[TBL] [Abstract][Full Text] [Related]
20. Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.
Su X; Lin R; Huang Y; Sheng H; Li X; Ting TH; Liu L; Li X
J Clin Res Pediatr Endocrinol; 2017 Mar; 9(1):52-57. PubMed ID: 27612026
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
