Search Results - "Meschino, W."

Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities by Noor, A., Bogatan, S., Watkins, N., Meschino, W.S., Stavropoulos, D.J.

“…There is a broad phenotypic spectrum of patients with 17p13.3 deletions. One of the most prominent feature is lissencephaly caused by haploinsufficiency of the…”
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Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome by Masellis, Mario, Momeni, Parastoo, Meschino, Wendy, Heffner, Reid, Elder, Joshua, Sato, Christine, Liang, Yan, George-Hyslop, Peter St, Hardy, John, Bilbao, Juan, Black, Sandra, Rogaeva, Ekaterina

“…Corticobasal syndrome (CBS) is a rare cognitive and movement disorder characterized by asymmetric rigidity, apraxia, alien-limb phenomenon, cortical sensory…”
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Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort by Yoon, G., Baskin, B., Tarnopolsky, M., Boycott, K. M., Geraghty, M. T., Sell, E., Goobie, S., Meschino, W., Banwell, B., Ray, P. N.

“…We describe the clinical and genetic features of a well-characterized cohort of patients with autosomal recessive hereditary spastic paraplegia (ARHSP) in the…”
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Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer by Aronson, M, Swallow, C, Govindarajan, A, Semotiuk, K, Cohen, Z, Kaurah, P, Velsher, L, Ambus, I, Buckley, K, Forster-Gibson, C, Meschino, W S, Blumenthal, A, Kim, R H, Brar, S

“…pathogenic variants (pvs) cause most cases of inherited diffuse gastric cancer (dgc), but have low detection rates and vary geographically. In the present…”
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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion by Park, Sung-Sup, Anyane-Yeboa, Kwame, Chen, Ken-Shiung, Kimonis, Virginia, Meschino, Wendy S, Summers, Anne M, Osterholm, Doreen E, Withers, Marjorie A, Potocki, Lorraine, Kashork, Catherine D, Shaffer, Lisa G, Lupski, James R

“…Recombination between repeated sequences at various loci of the human genome are known to give rise to DNA rearrangements associated with many genetic…”
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Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations by Rogaeva, E A, Fafel, K C, Song, Y Q, Medeiros, H, Sato, C, Liang, Y, Richard, E, Rogaev, E I, Frommelt, P, Sadovnick, A D, Meschino, W, Rockwood, K, Boss, M A, Mayeux, R, St George-Hyslop, P

“…Mutations in the presenilin-1 gene (PS1) account for a majority of patients with early-onset familial AD. However, the clinical indications and algorithms for…”
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Prevalence and penetrance of BRCA1 and BRCA2 gene Mutations in unselected Ashkenazi Jewish women with breast cancer by WARNER, E, FOULKES, W, DI PROSPERO, L, CONTIGA, V, SERRUYA, C, KLEIN, M, MOSLEHI, R, HONEYFORD, J, LIEDE, A, GLENDON, G, BRUNET, J.-S, NAROD, S, GOODWIN, P, MESCHINO, W, BLONDAL, J, PATERSON, C, OZCELIK, H, GOSS, P, ALLINGHAM-HAWKINS, D, HAMEL, N

“…Approximately 2.0%-2.5% of Ashkenazi Jewish women carry one of three founding mutations in the BRCA1 and BRCA2 genes, and each mutation is associated with a…”
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Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000 by Creighton, S, Almqvist, EW, MacGregor, D, Fernandez, B, Hogg, H, Beis, J, Welch, JP, Riddell, C, Lokkesmoe, R, Khalifa, M, MacKenzie, J, Sajoo, A, Farrell, S, Robert, F, Shugar, A, Summers, A, Meschino, W, Allingham-Hawkins, D, Chiu, T, Hunter, A, Allanson, J, Hare, H, Schween, J, Collins, L, Sanders, S, Greenberg, C, Cardwell, S, Lemire, E, MacLeod, P, Hayden, MR

“…Predictive and pre‐natal testing for Huntington's Disease (HD) has been available since 1987. Initially this was offered by linkage analysis, which was…”
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Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers by KOTSOPOULOS, Joanne, LUBINSKI, Jan, DOMCHEK, Susan, RANDALL, Susan, OFFIT, Kenneth, TUNG, Nadine, AINSWORTH, Peter, GERSHONI-BARUCH, Ruth, EISEN, Andrea, DALY, Mary, KARLAN, Beth, SAAL, Howard M, LYNCH, Henry T, COUCH, Fergus, PASINI, Barbara, WAGNER, Teresa, FRIEDMAN, Eitan, RENNERT, Gad, ENG, Charis, WEITZEL, Jeffrey, PING SUN, NAROD, Steven A, KLIJN, Jan, GHADIRIAN, Parviz, NEUHAUSEN, Susan L, KIRN-SING, Charmaine, FOULKES, William D, MOLLER, Pal, ISAACS, Claudine

“…An early age at first full-term birth is associated with a reduction in the subsequent development of breast cancer among women in the general population. A…”
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Germline truncating mutations in both MSH2 and BRCA2 in a single kindred by THIFLAULT, I, HAMEL, N, GOLDGAR, D, GRAHAM, T, NAROD, S, WATTERS, A. K, MACNAMARA, E, DU SART, D, CHONG, G, FOULKES, W. D, PAL, T, MCVETY, S, MARCUS, V. A, FARBER, D, COWIE, S, DESCHENES, J, MESCHINO, W, ODEFREY, F

“…There has been interest in the literature in the possible existence of a gene that predisposes to both breast cancer (BC) and colorectal cancer (CRC). We…”
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Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2 by Phillips, Kelly-Anne, Warner, Ellen, Meschino, Wendy S, Hunter, Jon, Abdolell, Mohamed, Glendon, Gordon, Andrulis, Irene L, Goodwin, Pamela J

“…The perceived benefits and risks of genetic testing may vary between groups of individuals with different cultural, demographic, and family history features…”
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Genetics and insurance by Meschino, Wendy S

“…Consider the following recent clinical scenarios: a health care provider who works full-time for an insurance company requests anonymous testing for BRCA1 (a…”
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New point mutations and deletions of the connexin 32 gene in x-linked charcot-marie-tooth neuropathy by Ionasescu, V., Searby, Ch, Ionasescu, R., Meschino, W.

“…The purpose of this study was the identification of new mutations of the connexin 32 (CX32) gene in CMTX families. We report six new mutations of the CX32 gene…”
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The Importance of a Family History of Breast Cancer in Predicting the Presence of a BRCA Mutation by Foulkes, William D., Brunet, Jean-Sébastien, Warner, Ellen, Goodwin, Pamela J., Meschino, Wendy, Narod, Steven A., Goss, Paul E., Glendon, Gordon

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International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers by Metcalfe, Kelly A., Birenbaum‐Carmeli, Daphna, Lubinski, Jan, Gronwald, Jacek, Lynch, Henry, Moller, Pal, Ghadirian, Parviz, Foulkes, William D., Klijn, Jan, Friedman, Eitan, Kim‐Sing, Charmaine, Ainsworth, Peter, Rosen, Barry, Domchek, Susan, Wagner, Teresa, Tung, Nadine, Manoukian, Siranoush, Couch, Fergus, Sun, Ping, Narod, Steven A.

“…Several options for cancer prevention are available for women with a BRCA1 or BRCA2 mutation, including prophylactic surgery, chemoprevention and screening…”
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Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment by Adam, S, Wiggins, S, Whyte, P, Bloch, M, Shokeir, M H, Soltan, H, Meschino, W, Summers, A, Suchowersky, O, Welch, J P

“…Adult predictive and prenatal testing programmes for Huntington's disease (HD) in Canada have been available since 1986. However, the demand for prenatal…”
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Effect of genetic information on care by Meschino, W S

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Workshop report: genetic testing programs for familial Alzheimer's disease by Meschino, W, Lennox, A

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Not on the face alone: perception of contextualized face expressions in Huntington's disease by Aviezer, Hillel, Bentin, Shlomo, Hassin, Ran R., Meschino, Wendy S., Kennedy, Jeanne, Grewal, Sonya, Esmail, Sherali, Cohen, Sharon, Moscovitch, Morris

“…Numerous studies have demonstrated that Huntington's disease mutation-carriers have deficient explicit recognition of isolated facial expressions. There are no…”
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Schimke immunoosseous dysplasia complicated by moyamoya phenomenon by Boerkoel, Cornelius F., Nowaczyk, Malgorzata J.M., Blaser, Susan I., Meschino, Wendy S., Weksberg, Rosanna

“…Schimke immunoosseous dysplasia (SID) is an autosomal recessive spondyloepiphyseal dysplasia that was first described by Schimke et al. [1971: Lancet…”
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