Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 129

1.

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.

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.

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.

4.

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. Epub 2015 Feb 23.

PMID:
25721873
5.

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
6.

High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.

Purizaca-Rosillo N, Mori T, Benites-Cóndor Y, Hisama FM, Martin GM, Oshima J.

Am J Med Genet A. 2017 Feb;173(2):471-478. doi: 10.1002/ajmg.a.38053. Epub 2016 Nov 21.

7.

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.

8.

Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.

Su X, Lin R, Huang Y, Sheng H, Li X, Ting TH, Liu L, Li X.

J Clin Res Pediatr Endocrinol. 2017 Mar 1;9(1):52-57. doi: 10.4274/jcrpe.3556. Epub 2016 Sep 9.

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.

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.

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.

12.

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.

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.

14.

Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil.

Gomes KB, Pardini VC, Ferreira AC, Fonseca CG, Fernandes AP.

Ann Hum Genet. 2007 Nov;71(Pt 6):729-34. Epub 2007 May 29.

15.

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.

16.

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group.

Nat Genet. 2001 Aug;28(4):365-70.

PMID:
11479539
17.

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
18.

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. doi: 10.1210/jc.2016-1005. Epub 2016 May 4.

PMID:
27144933
19.

Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.

Chen R, Yuan X, Wang J, Zhang Y.

Gene. 2017 Dec 30;637:57-62. doi: 10.1016/j.gene.2017.09.023. Epub 2017 Sep 12.

PMID:
28916377
20.

Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations.

Mori E, Fujikura J, Noguchi M, Nakao K, Matsubara M, Sone M, Taura D, Kusakabe T, Ebihara K, Tanaka T, Hosoda K, Takahashi K, Asaka I, Inagaki N, Nakao K.

Metabolism. 2016 Apr;65(4):543-56. doi: 10.1016/j.metabol.2015.12.015. Epub 2016 Jan 7.

PMID:
26975546

Supplemental Content

Support Center