Search Results - "Sellick, S"

Mutations in PTF1A cause pancreatic and cerebellar agenesis by Houlston, Richard S, Sellick, Gabrielle S, Barker, Karen T, Stolte-Dijkstra, Irene, Fleischmann, Christina, J Coleman, Richard, Garrett, Christine, Gloyn, Anna L, Edghill, Emma L, Hattersley, Andrew T, Wellauer, Peter K, Goodwin, Graham

“…Individuals with permanent neonatal diabetes mellitus usually present within the first three months of life and require insulin treatment. We recently…”
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Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency by Karadimitris, Anastasios, Almeida, Antonio M, Murakami, Yoshiko, Layton, D Mark, Hillmen, Peter, Sellick, Gabrielle S, Maeda, Yusuke, Richards, Stephen, Patterson, Scott, Kotsianidis, Ioannis, Mollica, Luigina, Crawford, Dorothy H, Baker, Alastair, Ferguson, Michael, Roberts, Irene, Houlston, Richard, Kinoshita, Taroh

“…Attachment to the plasma membrane by linkage to a glycosylphosphatidylinositol (GPI) anchor is a mode of protein expression highly conserved from protozoa to…”
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Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia by Rudd, Matthew F., Sellick, Gabrielle S., Webb, Emily L., Catovsky, Daniel, Houlston, Richard S.

“…We conducted a large-scale association study to identify low-penetrance susceptibility alleles for chronic lymphocytic leukemia (CLL), analyzing 992 patients…”
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Effects of the myostatin F94L substitution on beef traits by Esmailizadeh, A.K, Bottema, C.D.K, Sellick, G.S, Verbyla, A.P, Morris, C.A, Cullen, N.G, Pitchford, W.S

“…This study investigated the effects of a SNP in the myostatin gene (MSTN or growth differentiation factor 8, GDF8) on birth, growth, carcass, and beef quality…”
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Depression and cancer: an appraisal of the literature for prevalence, detection, and practice guideline development for psychological interventions by Sellick, Scott M., Crooks, Dauna L.

“…This paper reviews the current literature concerning the prevalence and incidence of depression in the general population and within the population of people…”
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SNPLINK: multipoint linkage analysis of densely distributed SNP data incorporating automated linkage disequilibrium removal by Webb, Emily L., Sellick, Gabrielle S., Houlston, Richard S.

“…SNPLINK is a Perl script that performs full genome linkage analysis of high-density single nucleotide polymorphism (SNP) marker sets. The presence of linkage…”
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Evaluation of CancerChatCanada: a program of online support for Canadians affected by cancer by Stephen, J, Rojubally, A, Macgregor, K, McLeod, D, Speca, M, Taylor-Brown, J, Fergus, K, Collie, K, Turner, J, Sellick, S, Mackenzie, G

“…Professional-led cancer support groups can improve quality of life and address unmet needs, but most Canadians affected by cancer do not have access to or do…”
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Thymidylate synthase polymorphisms, folate and B-vitamin intake, and risk of colorectal adenoma by HUBNER, R. A, LIU, J.-F, SELLICK, G. S, LOGAN, R. F. A, HOULSTON, R. S, MUIR, K. R

“…The effects of polymorphisms in genes coding for key folate metabolism enzymes such as thymidylate synthetase (TS) on colorectal neoplasia risk are likely to…”
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A Novel Gene for Neonatal Diabetes Maps to Chromosome 10p12.1-p13 by SELLICK, Gabrielle S, GARRETT, Christine, HOULSTON, Richard S

“…A Novel Gene for Neonatal Diabetes Maps to Chromosome 10p12.1-p13 Gabrielle S. Sellick 1 , Christine Garrett 2 and Richard S. Houlston 1 1 Section of Cancer…”
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Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays by Sellick, Gabrielle S., Longman, Cheryl, Tolmie, John, Newbury-Ecob, Ruth, Geenhalgh, Lynn, Hughes, Simon, Whiteford, Margo, Garrett, Christine, Houlston, Richard S.

“…Genomewide linkage searches aimed at identifying disease susceptibility loci are generally conducted using 300–400 microsatellite markers. Genotyping…”
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The Predicted Impact of Coding Single Nucleotide Polymorphisms Database by RUDD, Matthew F, WILLIAMS, Richard D, WEBB, Emily L, SCHMIDT, Steffen, SELLICK, Gabrielle S, HOULSTON, Richard S

“…Nonsynonymous single nucleotide polymorphisms (nsSNP) have the potential to affect the structure or function of expressed proteins and are, therefore, likely…”
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Folate Metabolism Polymorphisms Influence Risk of Colorectal Adenoma Recurrence by HUBNER, Richard A, MUIR, Kenneth R, LIU, Jo-Fen, SELLICK, Gabrielle S, LOGAN, Richard F. A, GRAINGE, Matthew, ARMITAGE, Nicholas, CHAU, Ian, HOULSTON, Richard S

“…Folate intake is inversely related to risk of developing colorectal neoplasia. Associations between risk of colorectal neoplasia and polymorphisms in genes…”
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Familial Chronic Lymphocytic Leukemia by Sellick, Gabrielle S., Catovsky, Daniel, Houlston, Richard S.

“…The role of inherited genetic factors in the etiology of chronic lymphocytic leukemia (CLL) and other B-cell lymphoproliferative disorders (LPDs) is now well…”
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MTHFR Polymorphisms and Risk of Chronic Lymphocytic Leukemia by Rudd, Matthew F, Sellick, Gabrielle S, Allinson, Ruth, Matutes, Estella, Catovsky, Daniel, Houlston, Richard S

“…Folate availability is critical for DNA integrity, required for the transfer of methyl groups in the biosynthesis of thymidilate. Reduction of…”
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A High-Density SNP Genomewide Linkage Scan for Chronic Lymphocytic Leukemia–Susceptibility Loci by Sellick, Gabrielle S., Webb, Emily L., Allinson, Ruth, Matutes, Estella, Dyer, Martin J.S., Jønsson, Viggo, Langerak, Anton W., Mauro, Francesca R., Fuller, Stephen, Wiley, James, Lyttelton, Matthew, Callea, Vincenzo, Yuille, Martin, Catovsky, Daniel, Houlston, Richard S.

“…Chronic lymphocytic leukemia (CLL) and other B-cell lymphoproliferative disorders (LPDs) show clear evidence of familial aggregation, but the inherited basis…”
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The P2X7 Receptor Gene A1513C Polymorphism Does Not Contribute to Risk of Familial or Sporadic Chronic Lymphocytic Leukemia by SELLICK, Gabrielle S, RUDD, Matthew, EVE, Paul, ALLINSON, Ruth, MATUTES, Estella, CATOVSKY, Daniel, HOULSTON, Richard S

“…The P2X7 receptor, a plasma membrane ATP-gated ion channel that plays a role in lymphocyte apoptosis, has been suggested to be involved in the development of…”
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When jurisdictional boundaries become barriers to good patient care by Stephen, J, Fergus, K, Sellick, S, Speca, M, Taylor-Brown, J, Turner, J, Collie, K, McLeod, D, Rojubally, A

“…Canada is a pioneer in remote cancer care delivery to underserved populations; however, it is trailing behind on policies that would support clinicians in…”
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Germline mutations in SPI1 and MADD do not contribute to familial chronic lymphocytic leukaemia by SELLICK, G. S, QURESHI, M, FIELDING, S, CATOVSKY, D, HOULSTON, R. S

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Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3 by SELLICK, G. S, LONGMAN, C, BROCKINGTON, M, MAHJNEH, I, SAGI, L, BUSHBY, K, TOPALOGLU, H, MUNTONI, F, HOULSTON, R. S

“…The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders, which present within the first 6 months of life with…”
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Variants in the GH-IGF axis confer susceptibility to lung cancer by Rudd, Matthew F, Webb, Emily L, Matakidou, Athena, Sellick, Gabrielle S, Williams, Richard D, Bridle, Helen, Eisen, Tim, Houlston, Richard S

“…We conducted a large-scale genome-wide association study in UK Caucasians to identify susceptibility alleles for lung cancer, analyzing 1529 cases and 2707…”
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