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Items: 1 to 20 of 63

1.

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, De Paepe A.

Am J Hum Genet. 2000 Apr;66(4):1398-402. Epub 2000 Mar 17.

2.

The Ehlers-Danlos syndromes.

Yeowell HN, Pinnell SR.

Semin Dermatol. 1993 Sep;12(3):229-40. Review.

PMID:
8217561
3.

Molecular genetics in classic Ehlers-Danlos syndrome.

Malfait F, De Paepe A.

Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):17-23. Review.

PMID:
16278879
5.

Ehlers-Danlos syndromes and Marfan syndrome.

Callewaert B, Malfait F, Loeys B, De Paepe A.

Best Pract Res Clin Rheumatol. 2008 Mar;22(1):165-89. doi: 10.1016/j.berh.2007.12.005. Review.

PMID:
18328988
6.
7.

[Ehlers-Danlos syndrome--diagnosis and subclassification].

Rand-Hendriksen S, Wekre LL, Paus B.

Tidsskr Nor Laegeforen. 2006 Aug 10;126(15):1903-7. Review. Norwegian.

8.

Inherited disorders of collagen gene structure and expression.

Byers PH.

Am J Med Genet. 1989 Sep;34(1):72-80. Review.

PMID:
2683783
9.

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

Malfait F, Wenstrup RJ, De Paepe A.

Genet Med. 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. Review.

PMID:
20847697
10.

Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome.

Bristow J, Carey W, Egging D, Schalkwijk J.

Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):24-30. Review.

PMID:
16278880
11.
12.

[Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects].

Germain D.

Ann Dermatol Venereol. 1995;122(4):187-204. Review. French.

PMID:
8526413
13.

[Ehlers-Danlos syndrome].

Brinckmann J, Behrens P, Brenner R, Bätge B, Tronnier M, Wolff HH.

Hautarzt. 1999 Apr;50(4):257-65. Review. German.

PMID:
10354917
14.

Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.

Prockop DJ.

Am J Hum Genet. 1984 May;36(3):499-505. Review. No abstract available.

15.

[The Ehlers-Danlos syndrome: the extracellular matrix scaffold in question].

Fichard A, Chanut-Delalande H, Ruggiero F.

Med Sci (Paris). 2003 Apr;19(4):443-52. Review. French.

16.

The Ehlers-Danlos syndrome, a disorder with many faces.

De Paepe A, Malfait F.

Clin Genet. 2012 Jul;82(1):1-11. doi: 10.1111/j.1399-0004.2012.01858.x. Epub 2012 Mar 15. Review.

PMID:
22353005
17.

Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.

Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B.

Am J Med Genet A. 2004 Jan 1;124A(1):28-34. Review.

PMID:
14679583
18.

Heritable collagen disorders: from phenotype to genotype.

De Paepe A.

Verh K Acad Geneeskd Belg. 1998;60(5):463-82; discussion 482-4. Review.

PMID:
9989335
19.

Etiology and pathogenesis of heritable connective tissue diseases.

Cole WG.

J Pediatr Orthop. 1993 May-Jun;13(3):392-403. Review.

PMID:
8496379
20.

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.

Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Lê T, De Paepe A, Malfait F.

Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6. Review.

PMID:
25703627

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