Literature DB >> 18409203

The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.

Cecilia Giunta1, Céline Chambaz, Marina Pedemonte, Sara Scapolan, Beat Steinmann.   

Abstract

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Year:  2008        PMID： 18409203     DOI： 10.1002/ajmg.a.32213

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  8 in total

Review 1.  The collagenopathies: review of clinical phenotypes and molecular correlations.

Authors:  Rebekah Jobling; Rohan D'Souza; Naomi Baker; Irene Lara-Corrales; Roberto Mendoza-Londono; Lucie Dupuis; Ravi Savarirayan; L Ala-Kokko; Peter Kannu
Journal:  Curr Rheumatol Rep       Date:  2014-01       Impact factor: 4.592

2.  COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

Authors:  Katarina Lindahl; Aileen M Barnes; Nadja Fratzl-Zelman; Michael P Whyte; Theresa E Hefferan; Elena Makareeva; Marina Brusel; Michael J Yaszemski; Carl-Johan Rubin; Andreas Kindmark; Paul Roschger; Klaus Klaushofer; William H McAlister; Steven Mumm; Sergey Leikin; Efrat Kessler; Adele L Boskey; Osten Ljunggren; Joan C Marini
Journal:  Hum Mutat       Date:  2011-04-07       Impact factor: 4.878

3.  Metalloproteases meprin α and meprin β are C- and N-procollagen proteinases important for collagen assembly and tensile strength.

Authors:  Claudia Broder; Philipp Arnold; Sandrine Vadon-Le Goff; Moritz A Konerding; Kerstin Bahr; Stefan Müller; Christopher M Overall; Judith S Bond; Tomas Koudelka; Andreas Tholey; David J S Hulmes; Catherine Moali; Christoph Becker-Pauly
Journal:  Proc Natl Acad Sci U S A       Date:  2013-08-12       Impact factor: 11.205

Review 4.  The Ehlers-Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism.

Authors:  Tim Van Damme; Marlies Colman; Delfien Syx; Fransiska Malfait
Journal:  Genes (Basel)       Date:  2022-01-29       Impact factor: 4.096

Review 5.  Ehlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.

Authors:  Marta Martín-Martín; Jonathan Cortés-Martín; Maria Isabel Tovar-Gálvez; Juan Carlos Sánchez-García; Lourdes Díaz-Rodríguez; Raquel Rodríguez-Blanque
Journal:  Int J Environ Res Public Health       Date:  2022-02-07       Impact factor: 3.390

6.  Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.

Authors:  Tim Van Damme; Alain Colige; Delfien Syx; Cecilia Giunta; Uschi Lindert; Marianne Rohrbach; Omid Aryani; Yasemin Alanay; Pelin Özlem Simsek-Kiper; Hester Y Kroes; Koen Devriendt; Marc Thiry; Sofie Symoens; Anne De Paepe; Fransiska Malfait
Journal:  Genet Med       Date:  2016-01-14       Impact factor: 8.822

7.  Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.

Authors:  Fransiska Malfait; Sofie Symoens; Nathalie Goemans; Yolanda Gyftodimou; Eva Holmberg; Vanesa López-González; Geert Mortier; Sheela Nampoothiri; Michael Bjorn Petersen; Anne De Paepe
Journal:  Orphanet J Rare Dis       Date:  2013-05-21       Impact factor: 4.123

Review 8.  The quest for substrates and binding partners: A critical barrier for understanding the role of ADAMTS proteases in musculoskeletal development and disease.

Authors:  Brandon Satz-Jacobowitz; Dirk Hubmacher
Journal:  Dev Dyn       Date:  2020-09-17       Impact factor: 3.780
  8 in total

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