PubMed (OMIM) for id: 7148

Year	Number of Results
1987	1
1989	1
1990	1
1992	2
1993	1
1994	1
1995	1
1996	1
1997	3
1998	1
2001	2
2002	2
2003	1
2005	3
2007	1
2009	2
2013	3
2014	1
2024	0

1

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Voermans NC, Gerrits K, van Engelen BG, de Haan A. Voermans NC, et al. Neuromuscul Disord. 2014 Jan;24(1):88-9. doi: 10.1016/j.nmd.2013.10.007. Epub 2013 Nov 5. Neuromuscul Disord. 2014. PMID: 24300784 No abstract available.

2

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Pénisson-Besnier I, Allamand V, Beurrier P, Martin L, Schalkwijk J, van Vlijmen-Willems I, Gartioux C, Malfait F, Syx D, Macchi L, Marcorelles P, Arbeille B, Croué A, De Paepe A, Dubas F. Pénisson-Besnier I, et al. Neuromuscul Disord. 2013 Aug;23(8):664-9. doi: 10.1016/j.nmd.2013.04.009. Epub 2013 Jun 12. Neuromuscul Disord. 2013. PMID: 23768946

3

TNXB mutations can cause vesicoureteral reflux.

Gbadegesin RA, Brophy PD, Adeyemo A, Hall G, Gupta IR, Hains D, Bartkowiak B, Rabinovich CE, Chandrasekharappa S, Homstad A, Westreich K, Wu G, Liu Y, Holanda D, Clarke J, Lavin P, Selim A, Miller S, Wiener JS, Ross SS, Foreman J, Rotimi C, Winn MP. Gbadegesin RA, et al. J Am Soc Nephrol. 2013 Jul;24(8):1313-22. doi: 10.1681/ASN.2012121148. Epub 2013 Apr 25. J Am Soc Nephrol. 2013. PMID: 23620400 Free PMC article.

4

The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.

Chen W, Kim MS, Shanbhag S, Arai A, VanRyzin C, McDonnell NB, Merke DP. Chen W, et al. Am J Med Genet A. 2009 Dec;149A(12):2803-8. doi: 10.1002/ajmg.a.33092. Am J Med Genet A. 2009. PMID: 19921645 Free PMC article.

5

Neuromuscular involvement in various types of Ehlers-Danlos syndrome.

Voermans NC, van Alfen N, Pillen S, Lammens M, Schalkwijk J, Zwarts MJ, van Rooij IA, Hamel BC, van Engelen BG. Voermans NC, et al. Ann Neurol. 2009 Jun;65(6):687-97. doi: 10.1002/ana.21643. Ann Neurol. 2009. PMID: 19557868

6

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. Voermans NC, et al. Am J Med Genet A. 2007 Sep 15;143A(18):2215-9. doi: 10.1002/ajmg.a.31899. Am J Med Genet A. 2007. PMID: 17702048 No abstract available.

7

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

Lindor NM, Bristow J. Lindor NM, et al. Am J Med Genet A. 2005 May 15;135(1):75-80. doi: 10.1002/ajmg.a.30671. Am J Med Genet A. 2005. PMID: 15793839

8

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. Zweers MC, et al. Clin Genet. 2005 Apr;67(4):330-4. doi: 10.1111/j.1399-0004.2005.00401.x. Clin Genet. 2005. PMID: 15733269

9

Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes.

Kirschner J, Hausser I, Zou Y, Schreiber G, Christen HJ, Brown SC, Anton-Lamprecht I, Muntoni F, Hanefeld F, Bönnemann CG. Kirschner J, et al. Am J Med Genet A. 2005 Jan 30;132A(3):296-301. doi: 10.1002/ajmg.a.30443. Am J Med Genet A. 2005. PMID: 15690374

10

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. Zweers MC, et al. Am J Hum Genet. 2003 Jul;73(1):214-7. doi: 10.1086/376564. Am J Hum Genet. 2003. PMID: 12865992 Free PMC article. No abstract available.

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