Literature DB >> 1609825

Molecular nosology of heritable disorders of connective tissue.

P Beighton1, A De Paepe, J G Hall, D W Hollister, F M Pope, R E Pyeritz, B Steinmann, P Tsipouras.   

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Year:  1992        PMID： 1609825     DOI： 10.1002/ajmg.1320420406

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  16 in total

1.  Proprioceptive sensitivity in Ehlers-Danlos syndrome patients.

Authors:  Holly A Clayton; Erin K Cressman; Denise Y P Henriques
Journal:  Exp Brain Res       Date:  2013-08-03       Impact factor: 1.972

2.  Multiple spontaneous coronary artery ruptures and cardiac tamponade in vascular Ehlers-Danlos syndrome.

Authors:  Yoshiaki Ohyama; Tatsuya Iso; Adriana Carolina Vargas Niño; Masaru Obokata; Rieko Takahashi; Wataru Okumura; Akihiko Nakano; Masao Amano; Isao Naito; Masamitsu Takatama; Masahiko Kurabayashi
Journal:  J Cardiol Cases       Date:  2010-11-12

Review 3.  Ehlers-Danlos syndrome has varied molecular mechanisms.

Authors:  F M Pope; N P Burrows
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

4.  Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.

Authors:  P Gómez-Garre; M Seijo; E Gutiérrez-Delicado; M Castro del Río; C de la Torre; C Gómez-Abad; J Morales-Corraliza; M Puig; J M Serratosa
Journal:  J Med Genet       Date:  2005-07-01       Impact factor: 6.318

5.  A group of patients with Marfan's syndrome, who have finger and toe contractures, displays tendons' alterations upon an ultrasound examination: are these features common among classical Marfan patients?

Authors:  Daniela Melchiorre; Elisa Pratelli; Elena Torricelli; Francesco Sofi; Rosanna Abbate; Marco Matucci-Cerinic; GianFranco Gensini; Guglielmina Pepe
Journal:  Intern Emerg Med       Date:  2016-02-22       Impact factor: 3.397

6.  Analysis of mutations in the sqt-1 and rol-6 collagen genes of Caenorhabditis elegans.

Authors:  J M Kramer; J J Johnson
Journal:  Genetics       Date:  1993-12       Impact factor: 4.562

7.  Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type).

Authors:  Lies Rombaut; Anne De Paepe; Fransiska Malfait; Ann Cools; Patrick Calders
Journal:  Clin Rheumatol       Date:  2009-11-25       Impact factor: 2.980

8.  Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19.

Authors:  R Oehlmann; G P Summerville; G Yeh; E J Weaver; S A Jimenez; R G Knowlton
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

9.  Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification.

Authors:  I Hausser; I Anton-Lamprecht
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

10.  Differential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilage.

Authors:  J Loughlin; C Irven; N Athanasou; A Carr; B Sykes
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025
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