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Items: 1 to 20 of 112

1.

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.

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.

PMID:
19438831
3.

Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study.

Cortés VA, Smalley SV, Goldenberg D, Lagos CF, Hodgson MI, Santos JL.

PLoS One. 2014 Jan 31;9(1):e87173. doi: 10.1371/journal.pone.0087173.

4.

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.

PMID:
23337016
5.

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.

6.

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.

7.

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.

8.
9.

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
10.

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.

PMID:
15126564
11.

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.

PMID:
19226263
12.

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.

PMID:
23647707
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 15;146A(18):2318-26. doi: 10.1002/ajmg.a.32457.

15.

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

Haghighi A, Kavehmanesh Z, Haghighi A, Salehzadeh F, Santos-Simarro F, Van Maldergem L, Cimbalistiene L, Collins F, Chopra M, Al-Sinani S, Dastmalchian S, de Silva DC, Bakhti H, Garg A, Hilbert P.

Clin Genet. 2015 Jun 15. doi: 10.1111/cge.12623. [Epub ahead of print]

PMID:
26072926
16.

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.

17.

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A.

Nat Genet. 2002 May;31(1):21-3.

PMID:
11967537
18.

Genetic basis of congenital generalized lipodystrophy.

Agarwal AK, Barnes RI, Garg A.

Int J Obes Relat Metab Disord. 2004 Feb;28(2):336-9. Review.

PMID:
14557833
19.

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.

Jelani M, Ahmed S, Almramhi MM, Mohamoud HS, Bakur K, Anshasi W, Wang J, Al-Aama JY.

Eur J Med Genet. 2015 Apr;58(4):216-21. doi: 10.1016/j.ejmg.2015.02.002.

PMID:
25721873
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.

PMID:
21744063

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