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Page 1
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
Fierheller CT, Alenezi WM, Serruya C, Revil T, Amuzu S, Bedard K, Subramanian DN, Fewings E, Bruce JP, Prokopec S, Bouchard L, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Tischkowitz M, Campbell IG, Pugh TJ, Greenwood CMT, Ragoussis J, Tonin PN. Fierheller CT, et al. Among authors: bedard k. Genes (Basel). 2023 Jan 20;14(2):277. doi: 10.3390/genes14020277. Genes (Basel). 2023. PMID: 36833203 Free PMC article.
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
Fierheller CT, Guitton-Sert L, Alenezi WM, Revil T, Oros KK, Gao Y, Bedard K, Arcand SL, Serruya C, Behl S, Meunier L, Fleury H, Fewings E, Subramanian DN, Nadaf J, Bruce JP, Bell R, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Majewski J, Pugh TJ, Tischkowitz M, James PA, Campbell IG, Greenwood CMT, Ragoussis J, Masson JY, Tonin PN. Fierheller CT, et al. Among authors: bedard k. Genome Med. 2021 Dec 3;13(1):186. doi: 10.1186/s13073-021-00998-5. Genome Med. 2021. PMID: 34861889 Free PMC article.
Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time.
Parisien-La Salle S, Dumas N, Bédard K, Jolin J, Moramarco J, Lacroix A, Lévesque I, Burnichon N, Gimenez-Roqueplo AP, Bourdeau I. Parisien-La Salle S, et al. Among authors: bedard k. Clin Endocrinol (Oxf). 2022 Jun;96(6):803-811. doi: 10.1111/cen.14618. Epub 2021 Nov 8. Clin Endocrinol (Oxf). 2022. PMID: 34750850
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
Grafodatskaya D, O'Rielly DD, Bedard K, Butcher DT, Howlett CJ, Lytwyn A, McCready E, Parboosingh J, Spriggs EL, Vaags AK, Stockley TL. Grafodatskaya D, et al. Among authors: bedard k. J Med Genet. 2022 Aug;59(8):727-736. doi: 10.1136/jmedgenet-2021-108238. Epub 2022 Apr 7. J Med Genet. 2022. PMID: 35393334 Free PMC article. Review.
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kmochová T, Kidd KO, Orr A, Hnízda A, Hartmannová H, Hodaňová K, Vyleťal P, Naušová K, Brinsa V, Trešlová H, Sovová J, Barešová V, Svojšová K, Vrbacká A, Stránecký V, Robins VC, Taylor A, Martin L, Rivas-Chavez A, Payne R, Bleyer HA, Williams A, Rennke HG, Weins A, Short PJ, Agrawal V, Storsley LJ, Waikar SS, McPhail ED, Dasari S, Leung N, Hewlett T, Yorke J, Gaston D, Geldenhuys L, Samuels M, Levine AP, West M, Hůlková H, Pompach P, Novák P, Weinberg RB, Bedard K, Živná M, Sikora J, Bleyer AJ Sr, Kmoch S. Kmochová T, et al. Among authors: bedard k. Kidney Int. 2024 Apr;105(4):799-811. doi: 10.1016/j.kint.2023.11.021. Epub 2023 Dec 12. Kidney Int. 2024. PMID: 38096951
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