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Items: 1 to 20 of 91

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.

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
4.

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.

5.

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.

6.

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC.

Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4.

PMID:
27582382
7.

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.

8.

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
9.

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
10.

An exception to the rule.

Byers PH.

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

PMID:
11642238
11.

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.

12.

Ehlers-Danlos syndrome-molecular genetics beyond the collagens.

Uitto J, Ringpfeil F.

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

13.

Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency.

Sakiyama T, Kubo A, Sasaki T, Yamada T, Yabe N, Matsumoto K, Futei Y.

J Dermatol. 2015 May;42(5):511-4. doi: 10.1111/1346-8138.12829. Epub 2015 Mar 13.

PMID:
25772043
14.

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
15.

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.

PMID:
16418200
16.

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
17.

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.

18.

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
19.

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
20.

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients.

Nielsen RH, Couppé C, Jensen JK, Olsen MR, Heinemeier KM, Malfait F, Symoens S, De Paepe A, Schjerling P, Magnusson SP, Remvig L, Kjaer M.

FASEB J. 2014 Nov;28(11):4668-76. doi: 10.1096/fj.14-249656. Epub 2014 Aug 13.

PMID:
25122555

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