Stockley T - Search Results

1

Functional disomy of Xp: prenatal findings and postnatal outcome.

Kolomietz E, Godbole K, Winsor EJ, Stockley T, Seaward G, Chitayat D. Kolomietz E, et al. Among authors: stockley t. Am J Med Genet A. 2005 May 1;134(4):393-8. doi: 10.1002/ajmg.a.30652. Am J Med Genet A. 2005. PMID: 15793841

2

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J. Weksberg R, et al. Hum Mol Genet. 2002 May 15;11(11):1317-25. doi: 10.1093/hmg/11.11.1317. Hum Mol Genet. 2002. PMID: 12019213

3

Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.

Feigenbaum A, Moore R, Clarke J, Hewson S, Chitayat D, Ray PN, Stockley TL. Feigenbaum A, et al. Am J Med Genet A. 2004 Jan 15;124A(2):142-7. doi: 10.1002/ajmg.a.20334. Am J Med Genet A. 2004. PMID: 14699612

4

Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis.

Wang JC, Steinraths M, Dang L, Lomax B, Eydoux P, Stockley T, Yong SL, Van Allen MI. Wang JC, et al. Among authors: stockley t. Am J Med Genet A. 2007 Dec 15;143A(24):2931-6. doi: 10.1002/ajmg.a.31946. Am J Med Genet A. 2007. PMID: 17955513

5

The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis.

Winsor EJ, Akoury H, Chitayat D, Steele L, Stockley TL. Winsor EJ, et al. Among authors: stockley tl. Prenat Diagn. 2010 Aug;30(8):746-52. doi: 10.1002/pd.2530. Prenat Diagn. 2010. PMID: 20661888

6

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R. Butcher DT, et al. Among authors: stockley tl. Am J Hum Genet. 2017 May 4;100(5):773-788. doi: 10.1016/j.ajhg.2017.04.004. Am J Hum Genet. 2017. PMID: 28475860 Free PMC article.

7

A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.

Stockley TL, Mendoza-Londono R, Propst EJ, Sodhi S, Dupuis L, Papsin BC. Stockley TL, et al. Am J Med Genet A. 2009 Mar;149A(3):322-7. doi: 10.1002/ajmg.a.32679. Am J Med Genet A. 2009. PMID: 19206155

8

Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.

So J, Stockley T, Stavropoulos DJ. So J, et al. Among authors: stockley t. Am J Med Genet A. 2014 Feb;164A(2):511-5. doi: 10.1002/ajmg.a.36292. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311471

9

CCMG practice guideline: laboratory guidelines for next-generation sequencing.

Hume S, Nelson TN, Speevak M, McCready E, Agatep R, Feilotter H, Parboosingh J, Stavropoulos DJ, Taylor S, Stockley TL; Canadian College of Medical Geneticists (CCMG). Hume S, et al. J Med Genet. 2019 Dec;56(12):792-800. doi: 10.1136/jmedgenet-2019-106152. Epub 2019 Jul 12. J Med Genet. 2019. PMID: 31300550 Free PMC article.

10

Development of a comprehensive approach to adult hereditary cancer testing in Ontario.

Bell KA, Kim R, Aronson M, Gillies B, Ali Awan A, Chun K, Hart J, Healey R, Kim L, Klaric G, Panabaker K, Sabatini PJB, Sadikovic B, Selvarajah S, Smith AC, Stockley TL, Vaags AK, Eisen A, Pollett A, Feilotter H. Bell KA, et al. J Med Genet. 2023 Aug;60(8):769-775. doi: 10.1136/jmg-2022-108945. Epub 2022 Dec 23. J Med Genet. 2023. PMID: 36564171

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

140 results

Search Page