Literature DB >> 7307320

Third case of a distinct variant of the Ehlers-Danlos Syndrome (EDS).

A Hernández, M G Aguirre-Negrete, J C Liparoli, J M Cantú.   

Abstract

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Year:  1981        PMID： 7307320     DOI： 10.1111/j.1399-0004.1981.tb01833.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

Review 1.  The Ehlers-Danlos syndromes.

Authors:  Fransiska Malfait; Marco Castori; Clair A Francomano; Cecilia Giunta; Tomoki Kosho; Peter H Byers
Journal:  Nat Rev Dis Primers       Date:  2020-07-30       Impact factor: 52.329

Review 2.  Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.

Authors:  Michael H Guo; Joan Stoler; Julian Lui; Ola Nilsson; Diana W Bianchi; Joel N Hirschhorn; Andrew Dauber
Journal:  Am J Med Genet A       Date:  2013-08-16       Impact factor: 2.802

Review 3.  Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.

Authors:  N C Voermans; C G Bonnemann; B C J Hamel; H Jungbluth; B G van Engelen
Journal:  J Neurol       Date:  2009-02-09       Impact factor: 4.849

4.  Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

Authors:  Marco Ritelli; Chiara Dordoni; Valeria Cinquina; Marina Venturini; Piergiacomo Calzavara-Pinton; Marina Colombi
Journal:  Orphanet J Rare Dis       Date:  2017-09-07       Impact factor: 4.123

5.  Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Authors:  Stefano Giuseppe Caraffi; Ilenia Maini; Ivan Ivanovski; Marzia Pollazzon; Sara Giangiobbe; Maurizia Valli; Antonio Rossi; Silvia Sassi; Silvia Faccioli; Maja Di Rocco; Cinzia Magnani; Belinda Campos-Xavier; Sheila Unger; Andrea Superti-Furga; Livia Garavelli
Journal:  Genes (Basel)       Date:  2019-10-12       Impact factor: 4.096

Review 6.  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

7.  Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.

Authors:  Delia Lorenz; Wolfram Kress; Ann-Kathrin Zaum; Christian P Speer; Helge Hebestreit
Journal:  BMC Pediatr       Date:  2021-06-30       Impact factor: 2.125
  7 in total

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