Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 142

1.

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.

PMID:
23284009
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

Am J Med Genet A. 2009 Dec;149A(12):2803-8. doi: 10.1002/ajmg.a.33092.

PMID:
19921645
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome.

Morissette R, Merke DP, McDonnell NB.

Eur J Med Genet. 2014 Feb;57(2-3):95-102. doi: 10.1016/j.ejmg.2013.12.004. Epub 2013 Dec 28.

PMID:
24380766
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
23830591
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Chen W, Xu Z, Nishitani M, Van Ryzin C, McDonnell NB, Merke DP.

Hum Genet. 2012 Dec;131(12):1889-94. doi: 10.1007/s00439-012-1217-8. Epub 2012 Aug 12.

PMID:
22886582
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module.

Lee HH.

Mol Genet Metab. 2005 Jan;84(1):4-8. Epub 2004 Nov 11. Review.

PMID:
15639189
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
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.

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

PMID:
15733269
[PubMed - indexed for MEDLINE]
9.

PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module.

Lee HH, Lee YJ, Lin CY.

Genomics. 2004 May;83(5):944-50.

PMID:
15081125
[PubMed - indexed for MEDLINE]
10.

A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Coeli-Lacchini FB, Turatti W, Elias PC, Elias LL, Martinelli CE Jr, Moreira AC, Antonini SR, de Castro M.

Gene. 2013 Sep 10;526(2):239-45. doi: 10.1016/j.gene.2013.03.082. Epub 2013 Apr 6.

PMID:
23570880
[PubMed - indexed for MEDLINE]
Free Article
11.

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.

PMID:
11642233
[PubMed - indexed for MEDLINE]
Free Article
12.

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.

PMID:
12865992
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.

Balraj P, Lim PG, Sidek H, Wu LL, Khoo AS.

J Endocrinol Invest. 2013 Jun;36(6):366-74. doi: 10.3275/8648. Epub 2012 Oct 1.

PMID:
23027774
[PubMed - indexed for MEDLINE]
14.

Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases.

Hendriks AG, Voermans NC, Schalkwijk J, Hamel BC, van Rossum MM.

Clin Dysmorphol. 2012 Jan;21(1):15-8. doi: 10.1097/MCD.0b013e32834c4bb7.

PMID:
21959861
[PubMed - indexed for MEDLINE]
15.

Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions.

Koppens PF, Hoogenboezem T, Degenhart HJ.

Hum Mol Genet. 2002 Oct 1;11(21):2581-90.

PMID:
12354783
[PubMed - indexed for MEDLINE]
Free Article
16.

Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP.

J Clin Endocrinol Metab. 2011 Jan;96(1):E161-72. doi: 10.1210/jc.2010-0319. Epub 2010 Oct 6.

PMID:
20926536
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Comparing the Southern blot method and polymerase chain reaction product analysis for chimeric RCCX detection in CYP21A2 deficiency.

Lee HH, Lee YJ, Chao MC.

Anal Biochem. 2010 Apr 15;399(2):293-8. doi: 10.1016/j.ab.2009.11.037. Epub 2009 Dec 2.

PMID:
19961824
[PubMed - indexed for MEDLINE]
18.

Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.

Lee HH, Lee YJ, Wang YM, Chao HT, Niu DM, Chao MC, Tsai FJ, Lo FS, Lin SJ.

Mol Genet Metab. 2008 Apr;93(4):450-7. Epub 2007 Nov 26.

PMID:
18039588
[PubMed - indexed for MEDLINE]
19.

Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.

Baradaran-Heravi A, Vakili R, Robins T, Carlsson J, Ghaemi N, A'rabi A, Abbaszadegan MR.

Clin Endocrinol (Oxf). 2007 Sep;67(3):335-41. Epub 2007 Jun 15.

PMID:
17573904
[PubMed - indexed for MEDLINE]
20.

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.

Ann Neurol. 2009 Jun;65(6):687-97. doi: 10.1002/ana.21643.

PMID:
19557868
[PubMed - indexed for MEDLINE]
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk