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Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer.
Published in:
Oncogene, 2002, v. 21, n. 12, p. 1928, doi. 10.1038/sj.onc.1205245
By:
- Porter, Timothy R.;
- Richards, Frances M.;
- Houlston, Richard S.;
- Evans, D. Gareth R.;
- Jankowski, Janusz A.;
- Macdonald, Fiona;
- Norbury, Gail;
- Payne, Stewart J.;
- Fisher, Samantha A.;
- Tomlinson, Ian;
- Maher, Eamonn R.
Publication type:
Article
Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome.
Published in:
Annals of Clinical Biochemistry, 2007, v. 44, n. 2, p. 159, doi. 10.1258/000456307780118181
By:
- Hatch, Sarah L.;
- Trewick, Anne L.;
- Payne, Stewart J.
Publication type:
Article
Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1192, doi. 10.1002/ajmg.a.33986
By:
- de Smith, Adam J.;
- van Haelst, Mieke M.;
- Ellis, Richard J.;
- Holder, Susan E.;
- Payne, Stewart J.;
- Hashim, Sugera K.;
- Froguel, Philippe;
- Blakemore, Alexandra I.F.
Publication type:
Article
Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE.
Published in:
Human Mutation, 2000, v. 15, n. 1, p. 120, doi. 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU32>3.0.CO;2-B
By:
- Bradbury, Rachel;
- Fagan, Elizabeth;
- Payne, Stewart J.
Publication type:
Article
A novel missense mutation S65C in the HFE gene with a possible role in hereditary haemochromatosis.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 507, doi. 10.1002/(SICI)1098-1004(1999)13:6<507::AID-HUMU25>3.0.CO;2-X
By:
- Fagan, Elizabeth;
- Payne, Stewart J.
Publication type:
Article
Female Germline Mosaicism in Tuberous Sclerosis Confirmed by Molecular Genetic Analysis.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 13, p. 2265, doi. 10.1093/hmg/6.13.2265
By:
- Yates, John R.W.;
- van Bakel, Inge;
- Sepp, Tiina;
- Payne, Stewart J.;
- Webb, David W.;
- Nevin, Norman C.;
- Green, Andrew J.
Publication type:
Article
A Family with Stickler Syndrome Type 2 Has a Mutation in the COL11A1 Gene Resulting in the Substitution of Glycine 97 by Valine in a1(XI) Collagen.
Published in:
Human Molecular Genetics, 1996, v. 5, n. 9, p. 1339, doi. 10.1093/hmg/5.9.1339
By:
- Richards, Allan J.;
- Yates, John R. W.;
- Williams, Rebecca;
- Payne, Stewart J.;
- Michael Pope, F.;
- Scott, John D.;
- Snead, Martin P.
Publication type:
Article
Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.
Published in:
Human Molecular Genetics, 1995, v. 4, n. 11, p. 2139
By:
- Richards, Frances M.;
- Payne, Stewart J.;
- Zbar, Berton;
- Affara, Nabeel A.;
- Ferguson-Smith, Malcolm A.;
- Maher, Eamonn R.
Publication type:
Article
Molecular genetic analysis of the 3p — syndrome.
Published in:
Human Molecular Genetics, 1994, v. 3, n. 6, p. 903
By:
- Phipps, Maude E.;
- Latif, Farida;
- Prowse, Amanda;
- Payne, Stewart J.;
- Dietz-Band, Jeanne;
- Leversha, Margaret;
- Affara, Nabeel A.;
- Moore, Anthony T.;
- Tolmie, John;
- Schinzel, Albert;
- Lerman, Michael I.;
- Ferguson-Smith, Malcolm A.;
- Maher, Eamonn R.
Publication type:
Article
Direct, non-radioactive detection of mutations in Multiple Endocrine Neoplasia Type 2A families.
Published in:
Human Molecular Genetics, 1994, v. 3, n. 4, p. 643
By:
- McMahon, Robert;
- Mulligan, Lois M.;
- Healey, Catherine S.;
- Payne, Stewart J.;
- Ponder, Margaret;
- Ferguson-Smith, Malcolm A.;
- Barton, David E.;
- J.Ponder, Bruce A.
Publication type:
Article

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