Wilroy RS - Search Results

1

Trigeminal nerve agenesis with absence of foramina rotunda in Gómez-López-Hernández syndrome.

Choudhri AF, Patel RM, Wilroy RS, Pivnick EK, Whitehead MT. Choudhri AF, et al. Among authors: wilroy rs. Am J Med Genet A. 2015 Jan;167A(1):238-42. doi: 10.1002/ajmg.a.36830. Epub 2014 Oct 22. Am J Med Genet A. 2015. PMID: 25339626

2

Jervell and Lange-Nielsen syndrome in a father and daughter from a large highly inbred family: a 16-year follow-up of 59 living members.

Sanyal SK, Kaul KK, Hussein A, Wilroy RS, Agarwal K, Sohel S. Sanyal SK, et al. Among authors: wilroy rs. Cardiol Young. 2013 Aug;23(4):530-9. doi: 10.1017/S1047951113000164. Epub 2013 May 13. Cardiol Young. 2013. PMID: 23668803

3

ABCA12 is the major harlequin ichthyosis gene.

Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP. Thomas AC, et al. Among authors: wilroy rs. J Invest Dermatol. 2006 Nov;126(11):2408-13. doi: 10.1038/sj.jid.5700455. Epub 2006 Aug 10. J Invest Dermatol. 2006. PMID: 16902423 Free article.

4

Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS).

Tharapel AT, Kadandale JS, Martens PR, Wachtel SS, Wilroy RS Jr. Tharapel AT, et al. Among authors: wilroy rs jr. Am J Med Genet. 2002 Jan 15;107(2):119-22. doi: 10.1002/ajmg.10106. Am J Med Genet. 2002. PMID: 11807885

5

Deletion of RBM and DAZ in azoospermia: evaluation by PRINS.

Kadandale JS, Wachtel SS, Tunca Y, Martens PR, Wilroy RS, Tharapel AT. Kadandale JS, et al. Among authors: wilroy rs. Am J Med Genet. 2002 Jan 15;107(2):105-8. doi: 10.1002/ajmg.10107. Am J Med Genet. 2002. PMID: 11807882

6

Localization of SRY by primed in situ labeling in XX and XY sex reversal.

Kadandale JS, Wachtel SS, Tunca Y, Wilroy RS Jr, Martens PR, Tharapel AT. Kadandale JS, et al. Among authors: wilroy rs jr. Am J Med Genet. 2000 Nov 6;95(1):71-4. doi: 10.1002/1096-8628(20001106)95:1<71::aid-ajmg14>3.0.co;2-y. Am J Med Genet. 2000. PMID: 11074498

7

Hypomelanosis of ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism.

Tunca Y, Wilroy RS, Kadandale JS, Martens PR, Gunther WM, Tharapel AT. Tunca Y, et al. Among authors: wilroy rs. Ann Genet. 2000 Jan-Mar;43(1):39-43. doi: 10.1016/s0003-3995(00)00012-5. Ann Genet. 2000. PMID: 10818220

8

Robert Layman Summitt, M.D. 1932-1998.

Wilroy RS, Opitz JM. Wilroy RS, et al. Am J Med Genet. 1999 Oct 29;86(5):403-4. doi: 10.1002/(sici)1096-8628(19991029)86:5<403::aid-ajmg1>3.0.co;2-6. Am J Med Genet. 1999. PMID: 10508978 No abstract available.

9

Chromosome duplications and deletions and their mechanisms of origin.

Tharapel AT, Michaelis RC, Velagaleti GV, Laundon CH, Martens PR, Buchanan PD, Teague KE, Tharapel SA, Wilroy RS Jr. Tharapel AT, et al. Among authors: wilroy rs jr. Cytogenet Cell Genet. 1999;85(3-4):285-90. doi: 10.1159/000015314. Cytogenet Cell Genet. 1999. PMID: 10449919

10

Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B.

Michaelis RC, Velagaleti GV, Jones C, Pivnick EK, Phelan MC, Boyd E, Tarleton J, Wilroy RS, Tunnacliffe A, Tharapel AT. Michaelis RC, et al. Among authors: wilroy rs. Am J Med Genet. 1998 Mar 19;76(3):222-8. Am J Med Genet. 1998. PMID: 9508241

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