E
Elizabeth Ives
Researcher at Memorial University of Newfoundland
Publications - 16
Citations - 1935
Elizabeth Ives is an academic researcher from Memorial University of Newfoundland. The author has contributed to research in topics: Population & Ataxia. The author has an hindex of 14, co-authored 16 publications receiving 1837 citations. Previous affiliations of Elizabeth Ives include St. John's University.
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Journal ArticleDOI
Loss‐of‐function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
Y P Goldberg,Julie MacFarlane,Marcia L.E. MacDonald,Jay Thompson,M-P Dubé,Maryanne Mattice,R Fraser,C Young,Sakiat Hossain,Terry D Pape,B Payne,C Radomski,G Donaldson,Elizabeth Ives,J Cox,HB Younghusband,Roger C. Green,A Duff,E Boltshauser,GA Grinspan,JH Dimon,BG Sibley,Generoso Andria,E Toscano,J Kerdraon,D Bowsher,Simon N. Pimstone,Mark E. Samuels,Robin Sherrington,Hayden +29 more
TL;DR: Genetic data further support the evidence that Nav1.7 plays an essential role in mediating pain in humans, and that SCN9A mutations identified in multiple different populations underlie CIP.
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Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.
H Telenius,B. Kremer,Y P Goldberg,J Theilmann,S E Andrew,J Zeisler,Shelin Adam,C Greenberg,Elizabeth Ives,Lorne A. Clarke +9 more
TL;DR: In this article, the authors analysed the CAG expansion in different tissues from 12 affected individuals and found that all tissues examined were found to display some repeat mosaicism, with the greatest levels detected in brain and sperm.
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Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome
Rosanna Weksberg,Cheryl Shuman,Oana Caluseriu,Adam C. Smith,Yan-Ling Fei,Joy L. Nishikawa,Tracy Stockley,Lyle Best,David Chitayat,Ann Haskins Olney,Elizabeth Ives,Adele Schneider,Timothy H. Bestor,Madeline Li,Paul D. Sadowski,Jeremy A. Squire +15 more
TL;DR: It is shown here that the incidence of female monozygotic twins among patients with BWS is dramatically increased over that of the general population, and that KCNQ1OT1 is especially vulnerable to a loss of imprinting event at a critical stage of preimplantation development.
Journal ArticleDOI
Risk modifiers in carriers of brca1 mutations
Steven A. Narod,David E. Goldgar,Lisa A. Cannon-Albright,Barbara L. Weber,Roxanna Moslehi,Elizabeth Ives,Gilbert M. Lenoir,Henry T. Lynch +7 more
TL;DR: The reproductive histories of 333 North American women found by haplotype analysis to carry BRCAI mutations were studied and it was found that an increased risk for breast cancer was associated with low parity and with recent birth cohort.
Journal ArticleDOI
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1
Terry-Lynn Young,Elizabeth Ives,Eric M. Lynch,Richard E. Person,Stephanie Snook,Linda MacLaren,Tracey Cator,Anne Griffin,Bridget A. Fernandez,Ming K. Lee,Mary Claire King +10 more
TL;DR: In a six-generation kindred from Newfoundland, Canada, WFS1 Ala716Thr (2146 G-->A) was shared by all deaf members of the family and was specific to deaf individuals, supporting the causal relationship between this missense mutation and deafness.