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Items: 1 to 20 of 113

1.

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. doi: 10.1016/j.ejmg.2014.06.006. Epub 2014 Jun 28.

PMID:
24980513
2.

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
3.

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 9;8:78. doi: 10.1186/1746-1596-8-78.

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
5.

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.

6.

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
7.

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
8.

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.

PMID:
14557463
9.

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
10.

Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene.

Shirwalkar HU, Patel ZM, Magre J, Hilbert P, Van Maldergem L, Mukhopadhyay RR, Maitra A.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S317-22. doi: 10.1007/s10545-008-0899-5. Epub 2008 Aug 12.

PMID:
18690553
11.

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.

12.

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 24;15:71. doi: 10.1186/1471-2350-15-71.

13.

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 Jan-Feb;52(1):14-6. doi: 10.1016/j.ejmg.2008.10.006. Epub 2008 Nov 12.

PMID:
19041432
14.

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.

15.

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. doi: 10.1016/j.ejmg.2012.07.011. Epub 2012 Aug 1.

16.

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
17.

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. doi: 10.1016/j.ymgme.2013.04.011. Epub 2013 Apr 23.

PMID:
23647707
18.

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. doi: 10.1002/ajmg.a.33578.

19.

A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene.

Huang HH, Chen TH, Hsiao HP, Huang CT, Wang CC, Shiau YH, Chao MC.

Kaohsiung J Med Sci. 2010 Nov;26(11):615-20. doi: 10.1016/S1607-551X(10)70094-2.

20.

Lipodystrophies: disorders of adipose tissue biology.

Garg A, Agarwal AK.

Biochim Biophys Acta. 2009 Jun;1791(6):507-13. doi: 10.1016/j.bbalip.2008.12.014. Epub 2009 Jan 7. Review.

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