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224 results

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Page 1
An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.
Pearson T, Curtis F, Al-Eyadhy A, Al-Tamemi S, Mazer B, Dror Y, Abish S, Bale S, Compton J, Ray R, Scott P, Der Kaloustian VM. Pearson T, et al. Among authors: dror y. Am J Med Genet A. 2008 Aug 15;146A(16):2159-61. doi: 10.1002/ajmg.a.32412. Am J Med Genet A. 2008. PMID: 18627054 No abstract available.
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.
Hashmi SK, Allen C, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Beyene J, Dror Y. Hashmi SK, et al. Among authors: dror y. Clin Genet. 2011 May;79(5):448-58. doi: 10.1111/j.1399-0004.2010.01468.x. Clin Genet. 2011. PMID: 20569259
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Odame I, Canning P, Allen C, Carcao M, Beyene J, Roifman CM, Dror Y. Tsangaris E, et al. Among authors: dror y. J Med Genet. 2011 Sep;48(9):618-28. doi: 10.1136/jmg.2011.089821. Epub 2011 Jun 9. J Med Genet. 2011. PMID: 21659346
The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes.
Cada M, Segbefia CI, Klaassen R, Fernandez CV, Yanofsky RA, Wu J, Pastore Y, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti M, Breakey V, Jardine L, Goodyear L, Sung L, Shago M, Beyene J, Sharma P, Zlateska B, Dror Y. Cada M, et al. Among authors: dror y. Haematologica. 2015 May;100(5):633-42. doi: 10.3324/haematol.2014.117457. Epub 2015 Feb 14. Haematologica. 2015. PMID: 25682607 Free PMC article.
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.
Ghemlas I, Li H, Zlateska B, Klaassen R, Fernandez CV, Yanofsky RA, Wu J, Pastore Y, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti M, Breakey VR, Jardine L, Goodyear L, Sung L, Dhanraj S, Reble E, Wagner A, Beyene J, Ray P, Meyn S, Cada M, Dror Y. Ghemlas I, et al. Among authors: dror y. J Med Genet. 2015 Sep;52(9):575-84. doi: 10.1136/jmedgenet-2015-103270. Epub 2015 Jul 1. J Med Genet. 2015. PMID: 26136524
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
Arbiv OA, Cuvelier G, Klaassen RJ, Fernandez CV, Robitaille N, Steele M, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton JH, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror Y. Arbiv OA, et al. Among authors: dror y. Clin Genet. 2018 Feb;93(2):320-328. doi: 10.1111/cge.13158. Epub 2017 Dec 27. Clin Genet. 2018. PMID: 29044489
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S, Cuvelier GD, Klaassen RJ, Fernandez CV, Pastore YD, Abish S, Rayar M, Steele M, Jardine L, Breakey VR, Brossard J, Sinha R, Silva M, Goodyear L, Lipton JH, Michon B, Corriveau-Bourque C, Sung L, Shabanova I, Li H, Zlateska B, Dhanraj S, Cada M, Scherer SW, Dror Y. Lauhasurayotin S, et al. Among authors: dror y. NPJ Genom Med. 2019 Dec 9;4:30. doi: 10.1038/s41525-019-0104-9. eCollection 2019. NPJ Genom Med. 2019. PMID: 31839986 Free PMC article.
Androgen therapy in inherited bone marrow failure syndromes: analysis from the Canadian Inherited Marrow Failure Registry.
Català A, Ali SS, Cuvelier GDE, Steele M, Klaassen RJ, Fernandez CV, Pastore YD, Abish S, Rayar M, Jardine L, Breakey VR, Brossard J, Sinha R, Silva M, Goodyear L, Lipton JH, Michon B, Corriveau-Bourque C, Sung L, Lauhasurayotin S, Zlateska B, Cada M, Dror Y. Català A, et al. Among authors: dror y. Br J Haematol. 2020 Jun;189(5):976-981. doi: 10.1111/bjh.16445. Epub 2020 Mar 3. Br J Haematol. 2020. PMID: 32128787 Free article.
Poor outcome after hematopoietic stem cell transplantation of patients with unclassified inherited bone marrow failure syndromes.
Lim YJ, Arbiv OA, Kalbfleisch ME, Klaassen RJ, Fernandez C, Rayar M, Steele M, Lipton JH, Cuvelier G, Pastore YD, Silva M, Brossard J, Michon B, Abish S, Sinha R, Corriveau-Bourque C, Breakey VR, Tole S, Goodyear L, Sung L, Zlateska B, Cada M, Dror Y. Lim YJ, et al. Among authors: dror y. Eur J Haematol. 2022 Apr;108(4):278-287. doi: 10.1111/ejh.13733. Epub 2022 Jan 13. Eur J Haematol. 2022. PMID: 34897809
224 results