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Refining the phenotype associated with biallelic DNAJC21 mutations.
D'Amours G, Lopes F, Gauthier J, Saillour V, Nassif C, Wynn R, Alos N, Leblanc T, Capri Y, Nizard S, Lemyre E, Michaud JL, Pelletier VA, Pastore YD, Soucy JF. D'Amours G, et al. Among authors: pastore yd. Clin Genet. 2018 Aug;94(2):252-258. doi: 10.1111/cge.13370. Epub 2018 Jun 7. Clin Genet. 2018. PMID: 29700810
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. 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
Sickle cell bone disease and response to intravenous bisphosphonates in children.
Grimbly C, Escagedo PD, Jaremko JL, Bruce A, Alos N, Robinson ME, Konji VN, Page M, Scharke M, Simpson E, Pastore YD, Girgis R, Alexander RT, Ward LM. Grimbly C, et al. Among authors: pastore yd. Osteoporos Int. 2022 Nov;33(11):2397-2408. doi: 10.1007/s00198-022-06455-2. Epub 2022 Jul 29. Osteoporos Int. 2022. PMID: 35904681 Free PMC article.
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. Haematologica. 2015 May;100(5):633-42. doi: 10.3324/haematol.2014.117457. Epub 2015 Feb 14. Haematologica. 2015. PMID: 25682607 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: pastore yd. 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.
Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.
Myers KC, Furutani E, Weller E, Siegele B, Galvin A, Arsenault V, Alter BP, Boulad F, Bueso-Ramos C, Burroughs L, Castillo P, Connelly J, Davies SM, DiNardo CD, Hanif I, Ho RH, Karras N, Manalang M, McReynolds LJ, Nakano TA, Nalepa G, Norkin M, Oberley MJ, Orgel E, Pastore YD, Rosenthal J, Walkovich K, Larson J, Malsch M, Elghetany MT, Fleming MD, Shimamura A. Myers KC, et al. Among authors: pastore yd. Lancet Haematol. 2020 Mar;7(3):e238-e246. doi: 10.1016/S2352-3026(19)30206-6. Epub 2019 Dec 23. Lancet Haematol. 2020. PMID: 31879230 Free PMC article.
The clinical impact of copy number variants in inherited bone marrow failure syndromes.
Waespe N, Dhanraj S, Wahala M, Tsangaris E, Enbar T, Zlateska B, Li H, Klaassen RJ, Fernandez CV, Cuvelier GDE, Wu JK, Pastore YD, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti MJ, Breakey VR, Jardine L, Goodyear L, Kofler L, Cada M, Sung L, Shago M, Scherer SW, Dror Y. Waespe N, et al. Among authors: pastore yd. NPJ Genom Med. 2017 May 10;2:18. doi: 10.1038/s41525-017-0019-2. NPJ Genom Med. 2017. PMID: 28690869 Free PMC article.
61 results