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Items: 1 to 20 of 118

1.

Joint hypermobility syndromes: the pathophysiologic role of tenascin-X gene defects.

Zweers MC, Hakim AJ, Grahame R, Schalkwijk J.

Arthritis Rheum. 2004 Sep;50(9):2742-9. Review. No abstract available.

2.

Tenascin-X: a candidate gene for benign joint hypermobility syndrome and hypermobility type Ehlers-Danlos syndrome?

Zweers MC, Kucharekova M, Schalkwijk J.

Ann Rheum Dis. 2005 Mar;64(3):504-5. No abstract available.

3.

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J.

N Engl J Med. 2001 Oct 18;345(16):1167-75.

4.

Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.

Zweers MC, Dean WB, van Kuppevelt TH, Bristow J, Schalkwijk J.

Clin Genet. 2005 Apr;67(4):330-4.

PMID:
15733269
5.

Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.

Mao JR, Taylor G, Dean WB, Wagner DR, Afzal V, Lotz JC, Rubin EM, Bristow J.

Nat Genet. 2002 Apr;30(4):421-5. Epub 2002 Mar 4.

PMID:
11925569
6.

Tenascin-X, collagen, and Ehlers-Danlos syndrome: tenascin-X gene defects can protect against adverse cardiovascular events.

Petersen JW, Douglas JY.

Med Hypotheses. 2013 Sep;81(3):443-7. doi: 10.1016/j.mehy.2013.06.005. Epub 2013 Jul 3.

7.

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

O'Connell M, Burrows NP, van Vlijmen-Willems MJ, Clark SM, Schalkwijk J.

Br J Dermatol. 2010 Dec;163(6):1340-5. doi: 10.1111/j.1365-2133.2010.09949.x. Review.

PMID:
20649799
8.

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
9.

An exception to the rule.

Byers PH.

N Engl J Med. 2001 Oct 18;345(16):1203-5. No abstract available.

PMID:
11642238
10.

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.

Burch GH, Gong Y, Liu W, Dettman RW, Curry CJ, Smith L, Miller WL, Bristow J.

Nat Genet. 1997 Sep;17(1):104-8.

PMID:
9288108
11.

The genetic basis of the joint hypermobility syndromes.

Malfait F, Hakim AJ, De Paepe A, Grahame R.

Rheumatology (Oxford). 2006 May;45(5):502-7. Epub 2006 Jan 17. Review. No abstract available.

12.

Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.

Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, Hannoush H, Shanbhag SM, Acevedo AT, Nishitani M, Arai AE, McDonnell NB.

J Clin Endocrinol Metab. 2013 Feb;98(2):E379-87. doi: 10.1210/jc.2012-3148. Epub 2013 Jan 2.

13.

Joint hypermobility and genetic collagen disorders: are they related?

Grahame R.

Arch Dis Child. 1999 Feb;80(2):188-91. Review.

14.

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.

Zweers MC, Bristow J, Steijlen PM, Dean WB, Hamel BC, Otero M, Kucharekova M, Boezeman JB, Schalkwijk J.

Am J Hum Genet. 2003 Jul;73(1):214-7. No abstract available.

15.

Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome.

Lindor NM, Bristow J.

Am J Med Genet A. 2005 May 15;135(1):75-80.

PMID:
15793839
16.

Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies.

Voermans NC, Jenniskens GJ, Hamel BC, Schalkwijk J, Guicheney P, van Engelen BG.

Am J Med Genet A. 2007 Sep 15;143A(18):2215-9. No abstract available.

PMID:
17702048
17.

Heritable collagen disorders: the paradigm of the Ehlers-Danlos syndrome.

Byers PH, Murray ML.

J Invest Dermatol. 2012 Nov 15;132(E1):E6-11. doi: 10.1038/skinbio.2012.3. Review. No abstract available.

18.

[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.

19.

Ehlers-Danlos syndrome hypermobility type and the excess of affected females: possible mechanisms and perspectives.

Castori M, Camerota F, Celletti C, Grammatico P, Padua L.

Am J Med Genet A. 2010 Sep;152A(9):2406-8. doi: 10.1002/ajmg.a.33585. No abstract available.

PMID:
20684008
20.

Ehlers-Danlos syndrome-molecular genetics beyond the collagens.

Uitto J, Ringpfeil F.

J Invest Dermatol. 2004 Apr;122(4):xii-xiii. No abstract available.

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