McDonnell NB - Search Results

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. Merke DP, et al. Among authors: mcdonnell nb. 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.

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. Chen W, et al. Among authors: mcdonnell nb. 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.

3

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: mcdonnell nb. 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.

4

Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families.

Nandagopal R, Sinaii N, Avila NA, Van Ryzin C, Chen W, Finkielstain GP, Mehta SP, McDonnell NB, Merke DP. Nandagopal R, et al. Among authors: mcdonnell nb. Eur J Endocrinol. 2011 Jun;164(6):977-84. doi: 10.1530/EJE-11-0019. Epub 2011 Mar 28. Eur J Endocrinol. 2011. PMID: 21444649 Free PMC article.

5

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: mcdonnell nb. 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.

6

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

Morissette R, Merke DP, McDonnell NB. Morissette R, et al. Among authors: 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. Eur J Med Genet. 2014. PMID: 24380766 Free PMC article.

7

Tenascin-X gene defects and cardiovascular disease.

Morissette R, McDonnell NB, Merke DP. Morissette R, et al. Among authors: mcdonnell nb. Med Hypotheses. 2014 Dec;83(6):844. doi: 10.1016/j.mehy.2014.01.027. Epub 2014 Mar 22. Med Hypotheses. 2014. PMID: 24709065 No abstract available.

8

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: mcdonnell nb. 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.

9

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. Among authors: mcdonnell nb. 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.

10

Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.

Chen W, Xu Z, Sullivan A, Finkielstain GP, Van Ryzin C, Merke DP, McDonnell NB. Chen W, et al. Among authors: mcdonnell nb. Clin Chem. 2012 Feb;58(2):421-30. doi: 10.1373/clinchem.2011.174037. Epub 2011 Dec 7. Clin Chem. 2012. PMID: 22156666 Free PMC article.

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