Literature DB >> 27189019

Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy.

Isabelle Jéru1,2,3, Camille Vatier2,3,4, David Araujo-Vilar5, Corinne Vigouroux1,2,3,4, Olivier Lascols1,2,3.   

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Year:  2016        PMID： 27189019      PMCID： PMC5110052          DOI： 10.1038/ejhg.2016.53

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  15 in total

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

Authors:  Musharraf Jelani; Saleem Ahmed; Mona Mohammad Almramhi; Hussein Sheikh Ali Mohamoud; Khadijah Bakur; Waseem Anshasi; Jun Wang; Jumana Yousuf Al-Aama
Journal:  Eur J Med Genet       Date:  2015-02-23       Impact factor: 2.708

Review 2.  The genetics of lipid storage and human lipodystrophies.

Authors:  Ann L Robbins; David B Savage
Journal:  Trends Mol Med       Date:  2015-05-12       Impact factor: 11.951

3.  Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.

Authors:  Eric D Austin; Lijiang Ma; Charles LeDuc; Erika Berman Rosenzweig; Alain Borczuk; John A Phillips; Teresa Palomero; Pavel Sumazin; Hyunjae R Kim; Megha H Talati; James West; James E Loyd; Wendy K Chung
Journal:  Circ Cardiovasc Genet       Date:  2012-04-02

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

Authors:  J Magré; M Delépine; E Khallouf; T Gedde-Dahl; L Van Maldergem; E Sobel; J Papp; M Meier; A Mégarbané; A Bachy; A Verloes; F H d'Abronzo; E Seemanova; R Assan; N Baudic; C Bourut; P Czernichow; F Huet; F Grigorescu; M de Kerdanet; D Lacombe; P Labrune; M Lanza; H Loret; F Matsuda; J Navarro; A Nivelon-Chevalier; M Polak; J J Robert; P Tric; N Tubiana-Rufi; C Vigouroux; J Weissenbach; S Savasta; J A Maassen; O Trygstad; P Bogalho; P Freitas; J L Medina; F Bonnicci; B I Joffe; G Loyson; V R Panz; F J Raal; S O'Rahilly; T Stephenson; C R Kahn; M Lathrop; J Capeau
Journal:  Nat Genet       Date:  2001-08       Impact factor: 38.330

5.  Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

Authors:  Abhimanyu Garg; Martin Kircher; Miguel Del Campo; R Stephen Amato; Anil K Agarwal
Journal:  Am J Med Genet A       Date:  2015-04-21       Impact factor: 2.802

6.  Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy.

Authors:  Wasim Haque; Abhimanyu Garg; Anil K Agarwal
Journal:  Biochem Biophys Res Commun       Date:  2005-02-11       Impact factor: 3.575

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

Authors:  C A Kim; Marc Delépine; Emilie Boutet; Haquima El Mourabit; Soazig Le Lay; Muriel Meier; Mona Nemani; Etienne Bridel; Claudia C Leite; Debora R Bertola; Robert K Semple; Stephen O'Rahilly; Isabelle Dugail; Jacqueline Capeau; Mark Lathrop; Jocelyne Magré
Journal:  J Clin Endocrinol Metab       Date:  2008-01-22       Impact factor: 5.958

8.  Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.

Authors:  Debora M Miranda; Bernardo L Wajchenberg; Maria R Calsolari; Marcos J Aguiar; José M C L Silva; Marcia G Ribeiro; Cristina Fonseca; Daniela Amaral; Wolfanga L Boson; Bruna A Resende; Luiz De Marco
Journal:  Clin Endocrinol (Oxf)       Date:  2009-02-18       Impact factor: 3.478

9.  A new seipin-associated neurodegenerative syndrome.

Authors:  Encarna Guillén-Navarro; Sofía Sánchez-Iglesias; Rosario Domingo-Jiménez; Berta Victoria; Alejandro Ruiz-Riquelme; Alberto Rábano; Lourdes Loidi; Andrés Beiras; Blanca González-Méndez; Adriana Ramos; Vanesa López-González; María Juliana Ballesta-Martínez; Miguel Garrido-Pumar; Pablo Aguiar; Alvaro Ruibal; Jesús R Requena; David Araújo-Vilar
Journal:  J Med Genet       Date:  2013-04-06       Impact factor: 6.318

10.  A mutation in the c-fos gene associated with congenital generalized lipodystrophy.

Authors:  Birgit Knebel; Jorg Kotzka; Stefan Lehr; Sonja Hartwig; Haluk Avci; Sylvia Jacob; Ulrike Nitzgen; Martina Schiller; Winfried März; Michael M Hoffmann; Eva Seemanova; Jutta Haas; Dirk Muller-Wieland
Journal:  Orphanet J Rare Dis       Date:  2013-08-07       Impact factor: 4.123
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  2 in total

1.  Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort.

Authors:  Nevin Ajluni; Rasimcan Meral; Adam H Neidert; Graham F Brady; Eric Buras; Barbara McKenna; Frank DiPaola; Thomas L Chenevert; Jeffrey F Horowitz; Colleen Buggs-Saxton; Amit R Rupani; Peedikayil E Thomas; Marwan K Tayeh; Jeffrey W Innis; M Bishr Omary; Hari Conjeevaram; Elif A Oral
Journal:  Clin Endocrinol (Oxf)       Date:  2017-03-27       Impact factor: 3.478

2.  Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy.

Authors:  Verônica Kristina Cândido Dantas; Joice da Silva Soares; Lázaro Batista de Azevedo Medeiros; Aquiles Sales Craveiro Sarmento; Thaiza Teixeira Xavier Nobre; Fábia Barbosa de Andrade; Josivan Gomes de Lima; Julliane Tamara Araújo de Melo Campos
Journal:  PLoS One       Date:  2018-06-04       Impact factor: 3.240
  2 in total

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