Literature DB >> 22892533

Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012.

Karin Mayer1, Ingo Kennerknecht, Beat Steinmann.   

Abstract

Entities:  

Mesh：

Year:  2012        PMID： 22892533      PMCID： PMC3533317          DOI： 10.1038/ejhg.2012.162

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


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  13 in total

Review 1.  Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature.

Authors:  M O'Connell; N P Burrows; M J J van Vlijmen-Willems; S M Clark; J Schalkwijk
Journal:  Br J Dermatol       Date:  2010-12       Impact factor: 9.302

2.  Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

Authors:  P Beighton; A De Paepe; B Steinmann; P Tsipouras; R J Wenstrup
Journal:  Am J Med Genet       Date:  1998-04-28

3.  Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

Authors:  Emma M M Burkitt Wright; Helen L Spencer; Sarah B Daly; Forbes D C Manson; Leo A H Zeef; Jill Urquhart; Nicoletta Zoppi; Richard Bonshek; Ioannis Tosounidis; Meyyammai Mohan; Colm Madden; Annabel Dodds; Kate E Chandler; Siddharth Banka; Leon Au; Jill Clayton-Smith; Naz Khan; Leslie G Biesecker; Meredith Wilson; Marianne Rohrbach; Marina Colombi; Cecilia Giunta; Graeme C M Black
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

4.  Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.

Authors:  Fransiska Malfait; Delfien Syx; Philip Vlummens; Sofie Symoens; Sheela Nampoothiri; Trinh Hermanns-Lê; Lut Van Laer; Anne De Paepe
Journal:  Hum Mutat       Date:  2010-11       Impact factor: 4.878

5.  Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

Authors:  Kim-Thanh Ong; Jérôme Perdu; Julie De Backer; Erwan Bozec; Patrick Collignon; Joseph Emmerich; Anne-Laure Fauret; Jean-Noël Fiessinger; Dominique P Germain; Gabriella Georgesco; Jean-Sebastien Hulot; Anne De Paepe; Henri Plauchu; Xavier Jeunemaitre; Stéphane Laurent; Pierre Boutouyrie
Journal:  Lancet       Date:  2010-09-07       Impact factor: 79.321

6.  Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.

Authors:  Alain Colige; Lieve Nuytinck; Ingrid Hausser; Anthonie J van Essen; Marc Thiry; Christian Herens; Lesley C Adès; Fransiska Malfait; Anne De Paepe; Peter Franck; Gerhard Wolff; Jan C Oosterwijk; J H Sillevis Smitt; Charles M Lapière; Betty V Nusgens
Journal:  J Invest Dermatol       Date:  2004-10       Impact factor: 8.551

7.  Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.

Authors:  Cecilia Giunta; Nursel H Elçioglu; Beate Albrecht; Georg Eich; Céline Chambaz; Andreas R Janecke; Heather Yeowell; MaryAnn Weis; David R Eyre; Marius Kraenzlin; Beat Steinmann
Journal:  Am J Hum Genet       Date:  2008-06       Impact factor: 11.025

8.  Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.

Authors:  Marianne Rohrbach; Anthony Vandersteen; Uluç Yiş; Gul Serdaroglu; Esra Ataman; Maya Chopra; Sixto Garcia; Kristi Jones; Ariana Kariminejad; Marius Kraenzlin; Carlo Marcelis; Matthias Baumgartner; Cecilia Giunta
Journal:  Orphanet J Rare Dis       Date:  2011-06-23       Impact factor: 4.123

Review 9.  Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.

Authors:  Fransiska Malfait; Richard J Wenstrup; Anne De Paepe
Journal:  Genet Med       Date:  2010-10       Impact factor: 8.822

Review 10.  Ehlers-Danlos syndrome type IV.

Authors:  Dominique P Germain
Journal:  Orphanet J Rare Dis       Date:  2007-07-19       Impact factor: 4.123
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  12 in total

1.  Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Authors:  Filippo Camerota; Marco Castori; Claudia Celletti; Marco Colotto; Silvia Amato; Alessandra Colella; Mario Curione; Chiara Danese
Journal:  Clin Rheumatol       Date:  2014-04-22       Impact factor: 2.980

2.  Unexpected association between joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type and obsessive-compulsive personality disorder.

Authors:  Massimo Pasquini; Claudia Celletti; Isabella Berardelli; Valentina Roselli; Simona Mastroeni; Marco Castori; Massimo Biondi; Filippo Camerota
Journal:  Rheumatol Int       Date:  2013-11-23       Impact factor: 2.631

3.  Clinical management of benign joint hypermobility syndrome: a case series.

Authors:  Patricia Adele Boudreau; Igor Steiman; Silvano Mior
Journal:  J Can Chiropr Assoc       Date:  2020-04

Review 4.  Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Authors:  Marco Castori; Nicol C Voermans
Journal:  Iran J Neurol       Date:  2014-10-06

5.  Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.

Authors:  Akshatha Desai; John J Connolly; Michael March; Cuiping Hou; Rosetta Chiavacci; Cecilia Kim; Gholson Lyon; Dexter Hadley; Hakon Hakonarson
Journal:  BMC Musculoskelet Disord       Date:  2016-02-16       Impact factor: 2.362

6.  Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey.

Authors:  Susanne Blöß; Christian Klemann; Ann-Katrin Rother; Sandra Mehmecke; Ulrike Schumacher; Urs Mücke; Martin Mücke; Christiane Stieber; Frank Klawonn; Xiaowei Kortum; Werner Lechner; Lorenz Grigull
Journal:  PLoS One       Date:  2017-02-24       Impact factor: 3.240

7.  Multiple fractures in infants who have Ehlers-Danlos/hypermobility syndrome and or vitamin D deficiency: A case series of 72 infants whose parents were accused of child abuse and neglect.

Authors:  M F Holick; A Hossein-Nezhad; F Tabatabaei
Journal:  Dermatoendocrinol       Date:  2017-02-16

8.  Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1.

Authors:  Zejia Lin; Jican Zeng; Xinjia Wang
Journal:  Biosci Rep       Date:  2019-07-25       Impact factor: 3.840

9.  Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

Authors:  Marco Ritelli; Chiara Dordoni; Marina Venturini; Nicola Chiarelli; Stefano Quinzani; Michele Traversa; Nicoletta Zoppi; Annalisa Vascellaro; Anita Wischmeijer; Emanuela Manfredini; Livia Garavelli; Piergiacomo Calzavara-Pinton; Marina Colombi
Journal:  Orphanet J Rare Dis       Date:  2013-04-12       Impact factor: 4.123

10.  Living with joint hypermobility syndrome: patient experiences of diagnosis, referral and self-care.

Authors:  Rohini H Terry; Shea T Palmer; Katharine A Rimes; Carol J Clark; Jane V Simmonds; Jeremy P Horwood
Journal:  Fam Pract       Date:  2015-04-24       Impact factor: 2.267
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