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Your search keyword '"Somerville, Martin J."' showing total 19 results
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19 results on '"Somerville, Martin J."'

1. The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations

Author

Villani, Anita, Davidson, Scott, Kanwar, Nisha, Lo, Winnie W., Li, Yisu, Cohen-Gogo, Sarah, Fuligni, Fabio, Edward, Lisa-Monique, Light, Nicholas, Layeghifard, Mehdi, Harripaul, Ricardo, Waldman, Larissa, Gallinger, Bailey, Comitani, Federico, Brunga, Ledia, Hayes, Reid, Anderson, Nathaniel D., Ramani, Arun K., Yuki, Kyoko E., Blay, Sasha, Johnstone, Brittney, Inglese, Cara, Hammad, Rawan, Goudie, Catherine, Shuen, Andrew, Wasserman, Jonathan D., Venier, Rosemarie E., Eliou, Marianne, Lorenti, Miranda, Ryan, Carol Ann, Braga, Michael, Gloven-Brown, Meagan, Han, Jianan, Montero, Maria, Spatare, Famida, Whitlock, James A., Scherer, Stephen W., Chun, Kathy, Somerville, Martin J., Hawkins, Cynthia, Abdelhaleem, Mohamed, Ramaswamy, Vijay, Somers, Gino R., Kyriakopoulou, Lianna, Hitzler, Johann, Shago, Mary, Morgenstern, Daniel A., Tabori, Uri, Meyn, Stephen, Irwin, Meredith S., Malkin, David, and Shlien, Adam

Published
2023
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2. Report of an International Survey of Molecular Genetic Testing Laboratories

Author

McGovern, Margaret M., Elles, Rob, Beretta, Isabella, Somerville, Martin J., Hoefler, Gerald, Keinanen, Mauri, Barton, David, Carson, Nancy, Dequeker, Elisabeth, Brdicka, Radim, Blazkova, Alena, Aymé, Ségolène, Schnieders, Birgit, Müller, Clemens R., Dalen, Vibeke, Martinez, Armando Albert, Kristoffersson, Ulf, Ozguc, Meral, Mueller, Hansjakob, Boone, Joe, Lubin, Ira M., Sequeiros, Jorge, Taruscio, Domenica, Williamson, Bob, Mainland, Lynn, Yoshikura, Hiroshi, and Ronchi, Elettra

Published
2007

4. Global variation in copy number in the human genome

Author

Redon, Richard, Ishikawa, Shumpei, Fitch, Karen R., Feuk, Lars, Perry, George H., Andrews, T. Daniel, Fiegler, Heike, Shapero, Michael H., Carson, Andrew R., Chen, Wenwei, Cho, Eun Kyung, Dallaire, Stephanie, Freeman, Jennifer L., Gonzalez, Juan R., Gratacos, Monica, Huang, Jing, Kalaitzopoulos, Dimitrios, Komura, Daisuke, MacDonald, Jeffrey R., Marshall, Christian R., Mei, Rui, Montgomery, Lyndal, Nishimura, Kunihiro, Okamura, Kohji, Shen, Fan, Somerville, Martin J., Tchinda, Joelle, Valsesia, Armand, Woodwark, Cara, Yang, Fengtang, Zhang, Junjun, Zerjal, Tatiana, Zhang, Jane, Armengol, Lluis, Conrad, Donald F., Estivill, Xavier, Tyler-Smith, Chris, Carter, Nigel P., Aburatani, Hiroyuki, Lee, Charles, Jones, Keith W., Scherer, Stephen W., and Hurles, Matthew E.

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Richard Redon [1]; Shumpei Ishikawa [2, 3]; Karen R. Fitch [4]; Lars Feuk [5, 6]; George H. Perry [7]; T. Daniel Andrews [1]; Heike Fiegler [1]; Michael H. Shapero [...]

Published
2006
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5. Severe expressive-language delay related to duplication of the Williams-Beuren locus

Author

Somerville, Martin J., Eul-Ju Seo, Peregrine, Ella, Perez-Jurado, Luis A., Scherer, Stephen W., Mervis, Carolyn B., Young, Edwin J., Campo, Miguel del, Bamforth, Stephen, Loo, Wayne, Lilley, Margaret, Morris, Colleen A., and Osborne, Lucy R.

Subjects
Williams syndrome -- Health aspects, Williams syndrome -- Case studies, Williams syndrome -- Genetic aspects
Abstract

A case description is presented with respect to the Williams-Beuren Syndrome (WBS) locus and it is hypothesized that reciprocal duplications of the WBS interval should occur. Results recommend that specific genes at 7q11.23 are sensitive to dosage alterations that can influence human language and visuospatial capabilities.

Published
2005

7. Microduplication and triplication of 22q11.2: a highly variable syndrome

Author

Yobb, Twila M., Somerville, Martin J., Willatt, Lionel, Firth, Helen V., Harrison, Karen, MacKenzie, Jennifer, Gallo, Natasha, Morrow, Bernice E., Shaffer, Lisa G., Babcock, Melanie, Chernos, Judy, Bernier, Francois, Sprysak, Kathy, Christiansen, Jesse, Haase, Shelagh, Elyas, Basil, Lilley, Margaret, Bamforth, Steven, and McDermid, Heather E.

Subjects
Genetic disorders -- Research, Human genetics -- Research, Biological sciences
Published
2005

11. Risk Factors for Development of Dementia in a Unique Six-Year Cohort Study. I. An Exploratory, Pilot Study of Involvement of the E4 Allele of Apolipoprotein E, Mutations of the Hemochromatosis-HFE Gene, Type 2 Diabetes, and Stroke.

Author

Percy, Maire, Somerville, Martin J., Hicks, Mark, Garcia, Angeles, Colelli, Teresa, Wright, Emily, Kitaygorodsky, Julia, Jiang, Amy, Ho, Valerie, Parpia, Alyssa, and Wong, Michael K.

Subjects
*ALZHEIMER'S disease, *APOLIPOPROTEIN E, *NEUROBEHAVIORAL disorders, *HUNTINGTON disease, *INBORN errors of metabolism
Abstract

Risk factors for dementia development are not well-defined. We evaluated several factors alone and in combination in a unique cohort of Caucasian volunteers over an approximately 6-year observation window using a nested case/control design. Factors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the strongest confirmed genetic predisposing factor for Alzheimer's disease), the hemochromatosis-HFE gene mutations (H63D and C282Y), diabetes, and stroke. At study entry, subjects were ≥⃒65 years of age (M ± SD = 73.0 ± 4.9), had an MMSE score ≥⃒24, and no evidence of cerebrovascular disease or current depression. Genotyping was completed on 163 available DNA samples from three different groups at the study end: those who still had normal cognitive function; those who had developed dementia; and those with Mild Cognitive Impairment (MCI). Analyses were interpreted at the 95% confidence level without Bonferroni corrections. In the subgroup with dementia, all cases of diabetes were type 2 and present at study entry, whereas all strokes occurred during the study. The results highlight apparently synergistic interactions between genetic and medical risk factors for dementia development, gender differences in risk factors, and involvement of HFE mutations. Having E4 (i.e., either of E3/4 or E4/4), C282Y, H63D, diabetes, or stroke alone did not attain significance. Significant predisposing factors with post-hoc power ≥⃒80% were: E4 homozygosity (E4/4)males+females, odds ratio (OR) = 56.0); E4+diabetes (males+females, OR = 13.7; E4+H63D+diabetes (females, OR = 52.0); E4+stroke (males, OR = 46.5). The importance of preventing diabetes and stroke to ward off dementia and the possible role of iron dysmetabolism in dementia are discussed. [ABSTRACT FROM AUTHOR]

Published
2014
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12. Involvement of ApoE E4 and H63D in Sporadic Alzheimer's Disease in a Folate-Supplemented Ontario Population.

Author

Percy, Maire, Moalem, Sharon, Garcia, Angeles, Somerville, Martin J., Hicks, Mark, Andrews, David, Azad, Azar, Schwarz, Peter, Zavareh, Reza Beheshti, Birkan, Rivka, Choo, Clara, Chow, Vinca, Dhaliwal, Sandeep, Duda, Victoria, Kupferschmidt, Anthony L., Lam, Kyla, Lightman, Deborah, Machalek, Karolina, Mar, Wanna, and Nguyen, Frank

Subjects
APOLIPOPROTEIN E, ALZHEIMER'S disease, VITAMIN B complex, IRON in the body, APOLIPOPROTEINS
Abstract

Dysregulation of iron homeostasis is implicated in Alzheimer's disease (AD). In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the iron overload disorder of hereditary hemochromatosis (C282Y, H63D and S65C) were evaluated as factors in sporadic AD in an Ontario sample in which folic acid fortification has been mandatory since 1998. Laboratory studies also were done to search for genetic effects on blood markers of iron status, red cell folates and serum B12. Participants included 58 healthy volunteers (25 males, 33 females) and 54 patients with probable AD (20 males, 34 females). Statistical analyses were interpreted at the 95% confidence level. Contingency table and odds ratio analyses supported the hypothesis that in females of the given age range, E4 significantly predisposed to AD in the presence but not absence of H63D. In males, E4 significantly predisposed to AD in the absence of H63D, and H63D in the absence of E4 appeared protective against AD. Among E4+ AD patients, H63D was associated with significant lowering of red cell folate concentration, possibly as the result of excessive oxidative stress. However, folate levels in the lowest population quartile did not affect the risk of AD. A model is presented to explain the experimental findings. [ABSTRACT FROM AUTHOR]

Published
2008
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15. Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.

Author

Ungar, Wendy J., Hayeems, Robin Z., Marshall, Christian R., Gillespie, Meredith K., Szuto, Anna, Chisholm, Caitlin, James Stavropoulos, D., Huang, Lijia, Jarinova, Olga, Wu, Vercancy, Tsiplova, Kate, Lau, Lynnette, Lee, Whiwon, Venkataramanan, Viji, Sawyer, Sarah, Mendoza-Londono, Roberto, Somerville, Martin J., and Boycott, Kym M.

Published
2023
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16. Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus.

Author

Somerville, Martin J., Mervis, Carolyn B., Young, Edwin J., Seo, Eul-Ju, del Campo, Miguel, Bamforth, Stephen, Peregrine, Ella, Loo, Wayne, Lilley, Margaret, Pérez-Jurado, Luis A., Morris, Colleen A., Scherer, Stephen W., and Osborne, Lucy R.

Subjects
*WILLIAMS syndrome, *CHROMOSOMAL rearrangement, *INTELLECTUAL disabilities, *GENES, *AORTIC valve stenosis in children, *SYNDROMES in children, *HEART valve diseases in children, *HEREDITY, *PHENOTYPES
Abstract

The Williams–Beuren syndrome (WBS) locus, at 7q11.23, is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS, a multisystem condition with characteristic cardiovascular, cognitive, and behavioral features. It is hypothesized that reciprocal duplications of the WBS interval should also occur, and here we present such a case description. The most striking phenotype was a severe delay in expressive speech, in contrast to the normal articulation and fluent expressive language observed in persons with WBS. Our results suggest that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities. [ABSTRACT FROM AUTHOR]

Published
2005
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