156 related articles for article (PubMed ID: 30563316)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
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. Prevalence of mutations in AGPAT2 among human lipodystrophies.
Magré J; Delépine M; Van Maldergem L; Robert JJ; Maassen JA; Meier M; Panz VR; Kim CA; Tubiana-Rufi N; Czernichow P; Seemanova E; Buchanan CR; Lacombe D; Vigouroux C; Lascols O; Kahn CR; Capeau J; Lathrop M
Diabetes; 2003 Jun; 52(6):1573-8. PubMed ID: 12765973
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
