Chen W - Search Results

1

Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.

Chen W, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, Xu Z, Quezado M, Merke DP. Chen W, et al. Hum Mutat. 2016 Sep;37(9):893-7. doi: 10.1002/humu.23028. Epub 2016 Jul 8. Hum Mutat. 2016. PMID: 27297501 Free PMC article. Clinical Trial.

2

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. Chen W, et al. Hum Genet. 2012 Dec;131(12):1889-94. doi: 10.1007/s00439-012-1217-8. Epub 2012 Aug 12. Hum Genet. 2012. PMID: 22886582 Free PMC article.

3

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. Merke DP, et al. Among authors: chen w. J Clin Endocrinol Metab. 2013 Feb;98(2):E379-87. doi: 10.1210/jc.2012-3148. Epub 2013 Jan 2. J Clin Endocrinol Metab. 2013. PMID: 23284009 Free PMC article.

4

Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia.

Xu Z, Chen W, Merke DP, McDonnell NB. Xu Z, et al. Among authors: chen w. J Mol Diagn. 2013 Nov;15(6):745-53. doi: 10.1016/j.jmoldx.2013.06.001. Epub 2013 Sep 23. J Mol Diagn. 2013. PMID: 24071710 Free PMC article.

5

Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia.

Morissette R, Chen W, Perritt AF, Dreiling JL, Arai AE, Sachdev V, Hannoush H, Mallappa A, Xu Z, McDonnell NB, Quezado M, Merke DP. Morissette R, et al. Among authors: chen w. J Clin Endocrinol Metab. 2015 Aug;100(8):E1143-52. doi: 10.1210/jc.2015-2232. Epub 2015 Jun 15. J Clin Endocrinol Metab. 2015. PMID: 26075496 Free PMC article.

6

Genetics of Congenital Adrenal Hyperplasia.

Hannah-Shmouni F, Chen W, Merke DP. Hannah-Shmouni F, et al. Among authors: chen w. Endocrinol Metab Clin North Am. 2017 Jun;46(2):435-458. doi: 10.1016/j.ecl.2017.01.008. Epub 2017 Mar 1. Endocrinol Metab Clin North Am. 2017. PMID: 28476231 Review.

7

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians.

Hannah-Shmouni F, Morissette R, Sinaii N, Elman M, Prezant TR, Chen W, Pulver A, Merke DP. Hannah-Shmouni F, et al. Among authors: chen w. Genet Med. 2017 Nov;19(11):1276-1279. doi: 10.1038/gim.2017.46. Epub 2017 May 25. Genet Med. 2017. PMID: 28541281 Free PMC article.

8

A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.

Lao Q, Mallappa A, Rueda Faucz F, Joyal E, Veeraraghavan P, Chen W, Merke DP. Lao Q, et al. Among authors: chen w. Mol Genet Genomic Med. 2021 Feb;9(2):e1556. doi: 10.1002/mgg3.1556. Epub 2020 Dec 17. Mol Genet Genomic Med. 2021. PMID: 33332743 Free PMC article.

9

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.

10

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. Finkielstain GP, et al. Among authors: chen w. J Clin Endocrinol Metab. 2011 Jan;96(1):E161-72. doi: 10.1210/jc.2010-0319. Epub 2010 Oct 6. J Clin Endocrinol Metab. 2011. PMID: 20926536 Free PMC article.

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