Literature DB >> 20010974

De Barsy syndrome and ATP6V0A2-CDG.

Elisa Leao-Teles, Dulce Quelhas, Laura Vilarinho, Jaak Jaeken.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 20010974      PMCID： PMC2987315          DOI： 10.1038/ejhg.2009.218

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


× No keyword cloud information.
  6 in total

1.  On the nomenclature of congenital disorders of glycosylation (CDG).

Authors:  J Jaeken; T Hennet; H H Freeze; G Matthijs
Journal:  J Inherit Metab Dis       Date:  2008-10-24       Impact factor: 4.982

Review 2.  De Barsy syndrome: a review of the phenotype.

Authors:  Emma C Kivuva; Michael J Parker; Marta C Cohen; Bart E Wagner; Glenda Sobey
Journal:  Clin Dysmorphol       Date:  2008-04       Impact factor: 0.816

3.  Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Authors:  Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; Dirk Lefeber; Zsolt Urban; Stephanie Gruenewald; Wim Annaert; Han G Brunner; Hans van Bokhoven; Ron Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos
Journal:  Nat Genet       Date:  2007-12-23       Impact factor: 38.330

4.  CDG nomenclature: time for a change!

Authors:  Jaak Jaeken; Thierry Hennet; Gert Matthijs; Hudson H Freeze
Journal:  Biochim Biophys Acta       Date:  2009-09

Review 5.  Autosomal recessive cutis laxa syndrome revisited.

Authors:  Eva Morava; Maïlys Guillard; Dirk J Lefeber; Ron A Wevers
Journal:  Eur J Hum Genet       Date:  2009-04-29       Impact factor: 4.246

6.  Mutations in PYCR1 cause cutis laxa with progeroid features.

Authors:  Bruno Reversade; Nathalie Escande-Beillard; Aikaterini Dimopoulou; Björn Fischer; Serene C Chng; Yun Li; Mohammad Shboul; Puay-Yoke Tham; Hülya Kayserili; Lihadh Al-Gazali; Monzer Shahwan; Francesco Brancati; Hane Lee; Brian D O'Connor; Mareen Schmidt-von Kegler; Barry Merriman; Stanley F Nelson; Amira Masri; Fawaz Alkazaleh; Deanna Guerra; Paola Ferrari; Arti Nanda; Anna Rajab; David Markie; Mary Gray; John Nelson; Arthur Grix; Annemarie Sommer; Ravi Savarirayan; Andreas R Janecke; Elisabeth Steichen; David Sillence; Ingrid Hausser; Birgit Budde; Gudrun Nürnberg; Peter Nürnberg; Petra Seemann; Désirée Kunkel; Giovanna Zambruno; Bruno Dallapiccola; Markus Schuelke; Stephen Robertson; Hanan Hamamy; Bernd Wollnik; Lionel Van Maldergem; Stefan Mundlos; Uwe Kornak
Journal:  Nat Genet       Date:  2009-08-02       Impact factor: 38.330
  6 in total
  4 in total

1.  Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.

Authors:  Bert Callewaert; Chi-Ting Su; Tim Van Damme; Philip Vlummens; Fransiska Malfait; Olivier Vanakker; Bianca Schulz; Meghan Mac Neal; Elaine C Davis; Joseph G H Lee; Aicha Salhi; Sheila Unger; Ketil Heimdal; Salome De Almeida; Uwe Kornak; Harald Gaspar; Jean-Luc Bresson; Katrina Prescott; Maria E Gosendi; Sahar Mansour; Gérald E Piérard; Suneeta Madan-Khetarpal; Frank C Sciurba; Sofie Symoens; Paul J Coucke; Lionel Van Maldergem; Zsolt Urban; Anne De Paepe
Journal:  Hum Mutat       Date:  2012-08-13       Impact factor: 4.878

Review 2.  Metabolic cutis laxa syndromes.

Authors:  Miski Mohamed; Dorus Kouwenberg; Thatjana Gardeitchik; Uwe Kornak; Ron A Wevers; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2011-03-23       Impact factor: 4.982

Review 3.  Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.

Authors:  Marco Ritelli; Francisco Cammarata-Scalisi; Valeria Cinquina; Marina Colombi
Journal:  Mol Genet Genomic Med       Date:  2019-05-21       Impact factor: 2.183

4.  A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited.

Authors:  Abhijit Dutta; Sudip Kumar Ghosh; Arghyaprasun Ghosh; Sutirtha Roy
Journal:  Indian J Dermatol       Date:  2016 Jan-Feb       Impact factor: 1.494
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.