224 related articles for article (PubMed ID: 23337016)
1. 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]
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. 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]
4. Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy.
Debray FG; Baguette C; Colinet S; Van Maldergem L; Verellen-Dumouin C
Mol Genet Metab; 2013 Jun; 109(2):227-9. PubMed ID: 23647707
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. Berardinelli-Seip syndrome: highlight of treatment challenge.
Ferraria N; Pedrosa C; Amaral D; Lopes L
BMJ Case Rep; 2013 Jan; 2013():. PubMed ID: 23362058
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. [Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].
Barra CB; Savoldelli RD; Manna TD; Kim CA; Magre J; Porta G; Setian N; Damiani D
Arq Bras Endocrinol Metabol; 2011 Feb; 55(1):54-9. PubMed ID: 21468520
[TBL] [Abstract][Full Text] [Related]
12. A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
Schrauwen I; Szelinger S; Siniard AL; Kurdoglu A; Corneveaux JJ; Malenica I; Richholt R; Van Camp G; De Both M; Swaminathan S; Turk M; Ramsey K; Craig DW; Narayanan V; Huentelman MJ
PLoS One; 2015; 10(7):e0131797. PubMed ID: 26176221
[TBL] [Abstract][Full Text] [Related]
13. A case of Berardinelli-Seip syndrome presenting with cirrhosis.
Wimalaratna H; Nandasiri AS
J R Coll Physicians Edinb; 2013; 43(4):309-11. PubMed ID: 24350312
[TBL] [Abstract][Full Text] [Related]
14. Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps.
Agrawala RK; Choudhury AK; Mohanty BK; Baliarsinha AK
J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):989-91. PubMed ID: 24825083
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
