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Page 1
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. Among authors: de bie i. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
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. 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.
Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.
Saskin A, Alfares A, Bernard C, Blumenkrantz M, Braverman N, Gupta I, Brosnihan KB, Antignac C, Gubler MC, Morinière V, De Bie I, Bitzan M. Saskin A, et al. Among authors: de bie i. Eur J Med Genet. 2019 Apr;62(4):254-258. doi: 10.1016/j.ejmg.2018.07.024. Epub 2018 Jul 31. Eur J Med Genet. 2019. PMID: 30071301
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
Wilson RD, De Bie I, Armour CM, Brown RN, Campagnolo C, Carroll JC, Okun N, Nelson T, Zwingerman R, Audibert F, Brock JA, Brown RN, Campagnolo C, Carroll JC, De Bie I, Johnson JA, Okun N, Pastruck M, Vallée-Pouliot K, Wilson RD, Zwingerman R, Armour C, Chitayat D, De Bie I, Fernandez S, Kim R, Lavoie J, Leonard N, Nelson T, Taylor S, Van Allen M, Van Karnebeek C. Wilson RD, et al. Among authors: de bie i. J Obstet Gynaecol Can. 2016 Aug;38(8):742-762.e3. doi: 10.1016/j.jogc.2016.06.008. J Obstet Gynaecol Can. 2016. PMID: 27638987
Validation of articles was completed by primary authors RD Wilson and I De Bie. BENEFITS, HARMS, AND COST: Benefits are to provide an evidenced based reproductive genetic carrier screening update consensus based on international opinions and publications for …
Validation of articles was completed by primary authors RD Wilson and I De Bie. BENEFITS, HARMS, AND COST: Benefits are …
Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en procréation, à l'ère des tests offerts directement aux consommateurs.
Wilson RD, De Bie I, Armour CM, Brown RN, Campagnolo C, Carroll JC, Okun N, Nelson T, Zwingerman R. Wilson RD, et al. Among authors: de bie i. J Obstet Gynaecol Can. 2016 Aug;38(8):763-787.e4. doi: 10.1016/j.jogc.2016.07.008. J Obstet Gynaecol Can. 2016. PMID: 27638988 No abstract available.
36 results