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Results: 1 to 20 of 114

1.

[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. Portuguese.

PMID:
21468520
[PubMed - indexed for MEDLINE]
Free Article
2.

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. doi: 10.1210/jc.2009-1824. Epub 2010 Jan 22.

PMID:
20097706
[PubMed - indexed for MEDLINE]
3.

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. doi: 10.1016/j.biochi.2009.01.011. Epub 2009 Feb 6.

PMID:
19278620
[PubMed - indexed for MEDLINE]
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. doi: 10.1111/j.1365-2265.2009.03532.x. Epub 2009 Feb 18.

PMID:
19226263
[PubMed - indexed for MEDLINE]
5.

Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy.

Beltrand J, Beregszaszi M, Chevenne D, Sebag G, De Kerdanet M, Huet F, Polak M, Tubiana-Rufi N, Lacombe D, De Paoli AM, Levy-Marchal C.

Pediatrics. 2007 Aug;120(2):e291-6.

PMID:
17671040
[PubMed - indexed for MEDLINE]
Free Article
6.

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. doi: 10.1016/j.ando.2012.11.008. Epub 2013 Jan 18.

PMID:
23337016
[PubMed - indexed for MEDLINE]
7.

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

Kim CA, Delépine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M, Bridel E, Leite CC, Bertola DR, Semple RK, O'Rahilly S, Dugail I, Capeau J, Lathrop M, Magré J.

J Clin Endocrinol Metab. 2008 Apr;93(4):1129-34. doi: 10.1210/jc.2007-1328. Epub 2008 Jan 22.

PMID:
18211975
[PubMed - indexed for MEDLINE]
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. doi: 10.1111/j.1442-200X.2009.02863.x. Epub 2009 Mar 31.

PMID:
19438831
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
18057387
[PubMed - indexed for MEDLINE]
Free Article
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 15;146A(18):2318-26. doi: 10.1002/ajmg.a.32457.

PMID:
18698612
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Berardinelli-Seip syndrome: highlight of treatment challenge.

Ferraria N, Pedrosa C, Amaral D, Lopes L.

BMJ Case Rep. 2013 Jan 28;2013. pii: bcr2012007734. doi: 10.1136/bcr-2012-007734.

PMID:
23362058
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
16435205
[PubMed - indexed for MEDLINE]
13.

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. doi: 10.1016/j.cca.2008.12.032. Epub 2009 Jan 9. Review.

PMID:
19167372
[PubMed - indexed for MEDLINE]
14.

[Therapy resistant diabetes mellitus and lipodystrophy: leptin therapy leads to improvement].

Jazet IM, Jonker JT, Wijngaarden MA, Lamb H, Smelt AH.

Ned Tijdschr Geneeskd. 2013;157(4):A5482. Review. Dutch.

PMID:
23343738
[PubMed - indexed for MEDLINE]
15.

Talon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndrome.

Solanki M, Patil SS, Baweja DK, Noorani H, Pk S.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Jan;105(1):e41-7.

PMID:
18155601
[PubMed - indexed for MEDLINE]
16.

[Difficult to manage diabetes mellitus associated with generalized congenital lipodystrophy. Report of two cases].

Cardona-Hernández R, Suárez-Ortega L, Torres M.

An Pediatr (Barc). 2011 Feb;74(2):126-30. doi: 10.1016/j.anpedi.2010.09.020. Epub 2010 Dec 17. Spanish.

PMID:
21168376
[PubMed - indexed for MEDLINE]
Free Article
17.

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.

PMID:
12765973
[PubMed - indexed for MEDLINE]
Free Article
18.

Pathology of congenital generalized lipodystrophy in Agpat2-/- mice.

Vogel P, Read R, Hansen G, Wingert J, Dacosta CM, Buhring LM, Shadoan M.

Vet Pathol. 2011 May;48(3):642-54. doi: 10.1177/0300985810383870. Epub 2010 Nov 4.

PMID:
21051554
[PubMed - indexed for MEDLINE]
Free Article
19.

Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin.

Beltrand J, Lahlou N, Le Charpentier T, Sebag G, Leka S, Polak M, Tubiana-Rufi N, Lacombe D, de Kerdanet M, Huet F, Robert JJ, Chevenne D, Gressens P, Lévy-Marchal C.

Eur J Endocrinol. 2010 Jun;162(6):1083-91. doi: 10.1530/EJE-09-1027. Epub 2010 Mar 17.

PMID:
20236991
[PubMed - indexed for MEDLINE]
Free Article
20.

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. doi: 10.1007/s00592-011-0308-7. Epub 2011 Jul 9.

PMID:
21744063
[PubMed - indexed for MEDLINE]

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