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Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. [electronic resource] by
- Kernohan, K D
- McBride, A
- Xi, Y
- Martin, N
- Schwartzentruber, J
- Dyment, D A
- Majewski, J
- Blaser, S
- Boycott, K M
- Chitayat, D
Producer: 20170602
In:
Clinical genetics vol. 91
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A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy. [electronic resource] by
- Zambonin, J L
- Dyment, D A
- Xi, Y
- Lamont, R E
- Hartley, T
- Miller, E
- Kerr, M
- Boycott, K M
- Parboosingh, J S
- Venkateswaran, S
Producer: 20191003
In:
Neurogenetics vol. 19
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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome. [electronic resource] by
- Au, P Y B
- Huang, L
- Broley, S
- Gallagher, L
- Creede, E
- Lahey, D
- Ordorica, S
- Mina, K
- Boycott, K M
- Baynam, G
- Dyment, D A
Producer: 20170928
In:
European journal of medical genetics vol. 60
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A genome scan in a single pedigree with a high prevalence of multiple sclerosis. [electronic resource] by
- Dyment, D A
- Cader, M Z
- Herrera, B M
- Ramagopalan, S V
- Orton, S M
- Chao, M
- Willer, C J
- Sadovnick, A D
- Risch, N
- Ebers, G C
Producer: 20080206
In:
Journal of neurology, neurosurgery, and psychiatry vol. 79
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Follow-up investigation of 12 proposed linkage regions in multiple sclerosis. [electronic resource] by
- Herrera, B M
- Cader, M Z
- Dyment, D A
- Bell, J T
- Ramagopalan, S V
- Lincoln, M R
- Orton, S
- Chao, M J
- Sadovnick, A D
- Ebers, G C
Producer: 20060914
In:
Genes and immunity vol. 7
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33.
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The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. [electronic resource] by
- DeLuca, G C
- Ramagopalan, S V
- Cader, M Z
- Dyment, D A
- Herrera, B M
- Orton, S
- Degenhardt, A
- Pugliatti, M
- Sadovnick, A D
- Sotgiu, S
- Ebers, G C
Producer: 20080111
In:
Journal of neurology vol. 254
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No effect of APOE and PVRL2 on the clinical outcome of multiple sclerosis. [electronic resource] by
- Ramagopalan, S V
- Deluca, G C
- Morrison, K M
- Herrera, B M
- Dyment, D A
- Orton, S
- Bihoreau, M T
- Degenhardt, A
- Pugliatti, M
- Sadovnick, A D
- Sotgiu, S
- Ebers, G C
Producer: 20070815
In:
Journal of neuroimmunology vol. 186
Availability: No items available.
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35.
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Multiple sclerosis susceptibility and the X chromosome. [electronic resource] by
- Herrera, B M
- Cader, M Z
- Dyment, D A
- Bell, J T
- Deluca, G C
- Willer, C J
- Lincoln, M R
- Ramagopalan, S V
- Chao, M
- Orton, S-M
- Sadovnick, A D
- Ebers, G C
Producer: 20071109
In:
Multiple sclerosis (Houndmills, Basingstoke, England) vol. 13
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A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. [electronic resource] 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
Producer: 20191028
In:
Clinical genetics vol. 94
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An extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the HLA-DRB1 locus. [electronic resource] 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
Producer: 20080115
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 104
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Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. [electronic resource] by
- Dyment, D A
- Sell, E
- Vanstone, M R
- Smith, A C
- Garandeau, D
- Garcia, V
- Carpentier, S
- Le Trionnaire, E
- Sabourdy, F
- Beaulieu, C L
- Schwartzentruber, J A
- McMillan, H J
- Majewski, J
- Bulman, D E
- Levade, T
- Boycott, K M
Producer: 20150724
In:
Clinical genetics vol. 86
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LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. [electronic resource] 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
Producer: 20160831
In:
Clinical genetics vol. 88
Availability: No items available.
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Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. [electronic resource] 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
Producer: 20160302
In:
Clinical genetics vol. 88
Availability: No items available.
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