Search Results - "Dyment, D A"

Epilepsy genetics: Current knowledge, applications, and future directions by Myers, K.A., Johnstone, D.L., Dyment, D.A.

“…The rapid pace of disease gene discovery has resulted in tremendous advances in the field of epilepsy genetics. Clinical testing with comprehensive gene…”
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Twin Concordance and Sibling Recurrence Rates in Multiple Sclerosis by Willer, C. J., Dyment, D. A., Risch, N. J., Sadovnick, A. D., Ebers, G. C., The Canadian Collaborative Study Group

“…Size and ascertainment constraints often limit twin studies to concordance comparisons between identical and fraternal twins. Here we report the final results…”
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Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing by Balci, T.B., Hartley, T., Xi, Y., Dyment, D.A., Beaulieu, C.L., Bernier, F.P., Dupuis, L., Horvath, G.A., Mendoza‐Londono, R., Prasad, C., Richer, J., Yang, X.‐R., Armour, C.M., Bareke, E., Fernandez, B.A., McMillan, H.J., Lamont, R.E., Majewski, J., Parboosingh, J.S., Prasad, A.N., Rupar, C.A., Schwartzentruber, J., Smith, A.C., Tétreault, M., Innes, A.M., Boycott, K.M.

“…Background Recent clinical whole exome sequencing (WES) cohorts have identified unanticipated multiple genetic diagnoses in single patients. However, the…”
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extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the HLA-DRB1 locus by DeLuca, G.C, Ramagopalan, S.V, Herrera, B.M, Dyment, D.A, Lincoln, M.R, Montpetit, A, Pugliatti, M, Barnardo, M.C.N, Risch, N.J, Sadovnick, A.D, Chao, M, Sotgiu, S, Hudson, T.J, Ebers, G.C

“…Multiple sclerosis (MS) is a common inflammatory disease of the central nervous system unsurpassed for variability in disease outcome. A cohort of sporadic MS…”
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MHC transmission: Insights into gender bias in MS susceptibility by CHAO, M. J, RAMAGOPALAN, S. V, HERRERA, B. M, ORTON, S. M, HANDUNNETTHI, L, LINCOLN, M. R, DYMENT, D. A, SADOVNICK, A. D, EBERS, G. C

“…Major histocompatibility complex (MHC) genes dominate genetic susceptibility factors in multiple sclerosis (MS). Given the general consensus that incidence and…”
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Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly by Kernohan, K.D., McBride, A., Xi, Y., Martin, N., Schwartzentruber, J., Dyment, D.A., Majewski, J., Blaser, S., Boycott, K.M., Chitayat, D.

“…Post‐translational protein modifications exponentially expand the functional complement of proteins encoded by the human genome. One such modification is the…”
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Risk alleles for multiple sclerosis in multiplex families by D'NETTO, M. J, WARD, H, MORRISON, K. M, RAMAGOPALAN, S. V, DYMENT, D. A, DELUCA, G. C, HANDUNNETTHI, L, SADOVNICK, A. D, EBERS, G. C

“…We assessed the hypotheses that non-major histocompatibility complex multiple sclerosis (MS) susceptibility loci would be common to sporadic cases and…”
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Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families by Hartley, T., Wagner, J.D., Warman‐Chardon, J., Tétreault, M., Brady, L., Baker, S., Tarnopolsky, M., Bourque, P.R., Parboosingh, J.S., Smith, C., McInnes, B., Innes, A.M., Bernier, F., Curry, C.J., Yoon, G., Horvath, G.A., Bareke, E., Gillespie, M., Majewski, J., Bulman, D.E., Dyment, D.A., Boycott, K.M.

“…The inherited peripheral neuropathies (IPNs) are characterized by marked clinical and genetic heterogeneity and include relatively frequent presentations such…”
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Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study by Dyment, D.A., Tétreault, M., Beaulieu, C.L., Hartley, T., Ferreira, P., Chardon, J.W., Marcadier, J., Sawyer, S.L., Mosca, S.J., Innes, A.M., Parboosingh, J.S., Bulman, D.E., Schwartzentruber, J., Majewski, J., Tarnopolsky, M., Boycott, K.M.

“…Whole‐exome sequencing (WES) has transformed our ability to detect mutations causing rare diseases. FORGE (Finding Of Rare disease GEnes) and Care4Rare Canada…”
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Parent-of-origin effect in multiple sclerosis: Observations from interracial matings by RAMAGOPALAN, S. V, YEE, I. M, DYMENT, D. A, ORTON, S.-M, MARRIE, R. A, SADOVNICK, A. D, EBERS, G. C

“…Multiple sclerosis (MS) is a complex neurologic disease with a striking geographical distribution. In Canada, prevalence is high in Caucasians of Northern…”
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Multiple sclerosis in stepsiblings: recurrence risk and ascertainment by Dyment, D A, Yee, I M L, Ebers, G C, Sadovnick, A D

“…Reports implicating specific transmissible agents in multiple sclerosis (MS) susceptibility continue to appear. We therefore re-evaluated MS risk in 687…”
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Parent-of-origin effect in multiple sclerosis: observations in half-siblings by Ebers, GC, Sadovnick, AD, Dyment, DA, Yee, IML, Willer, CJ, Risch, Neil

“…Multiple sclerosis is a complex trait in which occurrence rates in offspring are 20–50-fold greater than in the general population. Parent-of-origin effects…”
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Effect of immigration on multiple sclerosis sex ratio in Canada: the Canadian Collaborative Study by Orton, S-M, Ramagopalan, S V, Brocklebank, D, Herrera, B M, Dyment, D A, Yee, I M, Sadovnick, A D, Ebers, G C

“…Background:The ratio of female to male (F:M) multiple sclerosis (MS) cases varies geographically, generally being greater in areas of high prevalence. In many…”
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Age of puberty and the risk of multiple sclerosis: a population based study by Ramagopalan, S. V., Valdar, W., Criscuoli, M., DeLuca, G. C., Dyment, D. A., Orton, S.-M., Yee, I. M., Ebers, G. C., Sadovnick, A. D.

“…Background and purpose:  Genetic and environmental factors have important roles in multiple sclerosis (MS) susceptibility. Given a potential role for sex…”
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A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys by Ito, Y.A., Smith, A.C., Kernohan, K.D., Pena, I.A., Ahmed, A., McDonell, L.M., Beaulieu, C., Bulman, D.E., Smidt, A., Sawyer, S.L., Dyment, D.A., Boycott, K.M., Clericuzio, C.L.

“…A novel autosomal recessive disorder characterized by pre‐ and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital…”
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A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia by CADER, M. Z, STECKLEY, J. L, DYMENT, D. A, MCLACHLAN, R. S, EBERS, G. C

“…Episodic ataxias are ion channel disorders characterized by attacks of incoordination. The authors performed a genome-wide screen in a large pedigree…”
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Sex ratio of multiple sclerosis and clinical phenotype by Ramagopalan, S. V., Byrnes, J. K., Orton, S.-M., Dyment, D. A., Guimond, C., Yee, I. M., Ebers, G. C., Sadovnick, A. D.

“…Background and purpose: In a longitudinal population‐based dataset of patients with multiple sclerosis (MS), we have previously observed a substantial increase…”
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LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues by Chardon, Jodi Warman, Smith, A.C., Woulfe, J., Pena, E., Rakhra, K., Dennie, C., Beaulieu, C., Huang, Lijia, Schwartzentruber, J., Hawkins, C., Harms, M.B., Dojeiji, S., Zhang, M., Majewski, J., Bulman, D.E., Boycott, K.M., Dyment, D.A.

“…Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders leading to progressive muscle degeneration and often associated with…”
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HLA-DRB1 and month of birth in multiple sclerosis by Ramagopalan, S V, Link, J, Byrnes, J K, Dyment, D A, Giovannoni, G, Hintzen, R Q, Sundqvist, E, Kockum, I, Smestad, C, Lie, B A, Harbo, H F, Padyukov, L, Alfredsson, L, Olsson, T, Sadovnick, A D, Hillert, J, Ebers, G C

“…Multiple sclerosis (MS) displays a month-of-birth effect, with an excess of individuals being born in the spring and a deficit in the winter. This effect was…”
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Multiple sclerosis susceptibility and the X chromosome by Herrera, BM, Cader, MZ, Dyment, DA, Bell, JT, DeLuca, GC, Willer, CJ, Lincoln, MR, Ramagopalan, SV, Chao, M., Orton, S-M., Sadovnick, AD, Ebers, GC

“…Multiple sclerosis (MS) is a chronic autoimmune complex trait with strong evidence for a genetic component. A female gender bias is clear but unexplained and a…”
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