Search Results - "Concannon, Pat"

ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling by Stiff, Thomas, Walker, Sarah A, Cerosaletti, Karen, Goodarzi, Aaron A, Petermann, Eva, Concannon, Pat, O'Driscoll, Mark, Jeggo, Penny A

“…The phosphatidyl inositol 3‐kinase‐like kinases (PIKKs), ataxia‐telangiectasia mutated (ATM) and ATM‐ and Rad3‐related (ATR) regulate parallel damage response…”
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HLA DR-DQ Haplotypes and Genotypes and Type 1 Diabetes Risk by Erlich, Henry, Valdes, Ana Maria, Noble, Janelle, Carlson, Joyce A., Varney, Mike, Concannon, Pat, Mychaleckyj, Josyf C., Todd, John A., Bonella, Persia, Fear, Anna Lisa, Lavant, Eva, Louey, Anthony, Moonsamy, Priscilla

“…HLA DR-DQ Haplotypes and Genotypes and Type 1 Diabetes Risk Analysis of the Type 1 Diabetes Genetics Consortium Families Henry Erlich 1 2 , Ana Maria Valdes 2…”
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HLA DR-DQ Haplotypes and Genotypes and Type 1 Diabetes Risk : Analysis of the Type 1 Diabetes Genetics Consortium Families by ERLICH, Henry, VALDES, Ana Maria, LAVANT, Eva, LOUEY, Anthony, MOONSAMY, Priscilla, NOBLE, Janelle, CARLSON, Joyce A, VARNEY, Mike, CONCANNON, Pat, MYCHALECKYJ, Josyf C, TODD, John A, BONELLA, Persia, FEAR, Anna Lisa

“…The Type 1 Diabetes Genetics Consortium has collected type 1 diabetic families worldwide for genetic analysis. The major genetic determinants of type 1…”
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Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype by Cerosaletti, Karen M., Lange, Ethan, Stringham, Heather M., Weemaes, Corry M.R., Smeets, Dominique, Sölder, B., Belohradsky, B.H., Taylor, A. Malcolm R., Karnes, Pamela, Elliott, Alison, Komatsu, Kenshi, Gatti, Richard A., Boehnke, Michael, Concannon, Pat

“…Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, a birdlike face, growth retardation, immunodeficiency,…”
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OR.38. Alteration in T‐Cell Activation Profiles and Lymphocyte Phenotypes Are Functional Correlates of the 1858 C to T Mutation of Ptpn22 by Rieck, Mary, Onengut-Gumuscu, Suna, Gorman, Jennifer, Greenbaum, Carla, Concannon, Pat, Buckner, Jane

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Multi-center screening of mutations in the ATM gene among women with breast cancer - the WECARE Study by Berstein, Jonine L, Concannon, Pat, Langholz, Bryan, Thompson, W Douglas, Bernstein, Leslie, Stovall, Marilyn, Thomas, Duncan C

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An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome by BALRAJ, Pauline, CONCANNON, Pat, JAMAL, Rahman, BEGHINI, Alessandro, HOE, T. S, ALAN SOOBENG KHOO, VOLPI, Ludovica

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Dinucleotide repeat polymorphism at 11q23 by TELATAR, M, CONCANNON, P, TOLUN, A

“…A highly polymorphic CA repeat sequence was identified near the NCAM gene on chromosome 11q23. It should be a useful marker in the localization of genes…”
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An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome by Balraj, Pauline, Concannon, Pat, Jamal, Rahman, Beghini, Alessandro, Hoe, T S, Khoo, Alan Soobeng, Volpi, Ludovica

“…Rothmund-Thomson syndrome (OMIM #268400) is a severe autosomal recessive genodermatosis: characterised by growth retardation, hyperpigmentation and frequently…”
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