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Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.
Armour CM, Dougan SD, Brock JA, Chari R, Chodirker BN, DeBie I, Evans JA, Gibson WT, Kolomietz E, Nelson TN, Tihy F, Thomas MA, Stavropoulos DJ; On-Behalf-Of the Canadian College of Medical Geneticists. Armour CM, et al. Among authors: tihy f. J Med Genet. 2018 Apr;55(4):215-221. doi: 10.1136/jmedgenet-2017-105013. Epub 2018 Mar 1. J Med Genet. 2018. PMID: 29496978 Free PMC article.
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.
Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW. Uddin M, et al. Among authors: tihy f. Sci Rep. 2016 Jul 1;6:28663. doi: 10.1038/srep28663. Sci Rep. 2016. PMID: 27363808 Free PMC article.
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ. Chénier S, et al. Among authors: tihy f. J Neurodev Disord. 2014;6(1):9. doi: 10.1186/1866-1955-6-9. Epub 2014 Apr 22. J Neurodev Disord. 2014. PMID: 24834135 Free PMC article.
Prenatal cytogenetic assessment and inv(2)(p11.2q13).
Hysert M, Bruyère H, Côté GB, Dawson AJ, Dolling JA, Fetni R, Hrynchak M, Lavoie J, McGowan-Jordan J, Tihy F, Duncan AM. Hysert M, et al. Among authors: tihy f. Prenat Diagn. 2006 Sep;26(9):810-3. doi: 10.1002/pd.1508. Prenat Diagn. 2006. PMID: 16821252
RETIRED: Prenatal screening for fetal aneuploidy.
Summers AM, Langlois S, Wyatt P, Douglas Wilson R; MEMBERS OF THE SOGC GENETICS COMMITTEE; MEMBERS OF THE CCMG COMMITTEE ON PRENATAL DIAGNOSIS; MEMBERS OF THE SOGC DIAGNOSTIC IMAGING COMMITTEE. Summers AM, et al. J Obstet Gynaecol Can. 2007 Feb;29(2):146-161. doi: 10.1016/S1701-2163(16)32379-9. J Obstet Gynaecol Can. 2007. PMID: 17346485 English, French.
27 results