Mandibulofacial dysostosis with microcephaly: mutation and database update
- Creator: Huang, Lijia , Vanstone, Megan R. , Estrella, Jane , Faghfoury, Hanna , Favaro, Francine P. , Goel, Himanshu , Gregersen, Pernille A. , Gripp, Karen W. , Grix, Art , Guion-Almeida, Maria-Leine , Harr, Margaret H. , Hudson, Cindy , Hartley, Taila , Hunter, Alasdair G. W. , Johnson, John , Joss, Shelagh K. , Kimball, Amy , Kini, Usha , Kline, Antoine D. , Lauzon, Julie , Lildballe, Dorte L. , López-González, Vanesa , Martinezmoles, Johanna , Osmond, Matthew , Meldrum, Cliff , Mirzaa, Ghayda M. , Morel, Chantal F. , Morton, Jenny E. V. , Pyle, Louise C. , Quintero-Rivera, Fabiola , Richer, Julie , Scheuerle, Angela E. , Schönewolf-Greulich, Bitten , Shears, Deborah J. , Barrowman, Nick , Silver, Josh , Smith, Amanda C. , Temple, I. Karen , van de Kamp, Jiddeke M. , van Dijk, Fleur S. , Vandersteen, Anthony M. , White, Sue M. , Zackai, Elaine H. , Zou, Ruobing , Consortium, Care4Rare Canada , Allanson, Judith , Bulman, Dennis E. , Boycott, Kym M. , Lines, Matthew A. , Baker, Laura , Dabir, Tabib A. , Dipple, Katrina M. , Dobyns, William B.
- Resource Type: journal article
- Date: 2015
Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients
- Creator: Talseth-Palmer, Bente A. , Holliday, Elizabeth G. , Evans, Tiffany-Jane , McEvoy, Mark , Attia, John , Grice, Desma M. , Masson, Amy L. , Meldrum, Cliff , Spigelman, Allan , Scott, Rodney J.
- Resource Type: journal article
- Date: 2013
The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients
- Creator: Talseth-Palmer, Bente A. , Wijnen, Juul T. , Van Wezel, Tom , Vasen, Hans F. A. , Scott, Rodney J. , Andreassen, Eva K. , Barker, Daniel , Jagmohan-Changur, Shantie , Tops, Carli M. , Meldrum, Cliff , The Dutch Cancer Genetics Group , Spigelman, Allan , Hes, Frederik J.
- Resource Type: journal article
- Date: 2013
DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome
- Creator: Reeves, Stuart G. , Meldrum, Cliff , Groombridge, Claire , Spigelman, Allan , Suchy, Janina , Kurzawski, Grzegorz , Lubinski, Jan , Scott, Rodney J.
- Resource Type: journal article
- Date: 2012
MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer
- Creator: Reeves, Stuart G. , Meldrum, Cliff , Groombridge, Claire , Spigelman, Allan D. , Suchy, Janina , Kurzawski, Grzegorz , Lubinski, Jan , McElduff, Patrick , Scott, Rodney J.
- Resource Type: journal article
- Date: 2009
Aurora-A and Cyclin D1 polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer
- Creator: Talseth, Bente A. , Ashton, Katie A. , Meldrum, Cliff , Suchy, Janina , Kurzawski, Grzegorz , Lubinski, Jan , Scott, Rodney J.
- Resource Type: journal article
- Date: 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
- Creator: Froyen, Guy , Corbett, Mark , Chelly, Jamel , Sanlaville, Damien , van Bokhoven, Hans , Ropers, Hans-Hilger , Laumonnier, Frederic , Ranieri, Enzo , Schwartz, Charles E. , Abidi, Fatima , Tarpey, Patrick S. , Futreal, P. Andrew , Vandewalle, Joke , Whibley, Annabel , Raymond, F. Lucy , Stratton, Michael R. , Fryns, Jean-Pierre , Scott, Rodney , Peippo, Maarit , Sipponen, Marjatta , Partington, Michael , Mowat, David , Field, Michael , Jarvela, Irma , Hackett, Anna , Marynen, Peter , Turner, Gillian , Gécz, Jozef , Lawrence, Owen , Meldrum, Cliff , Bauters, Marijke , Govaerts, Karen , Vandeleur, Lucianne , Van Esch, Hilde
- Resource Type: journal article
- Date: 2008
Whole genome amplification and its impact on CGH array profiles
- Creator: Talseth-Palmer, Bente A. , Bowden, Nikola A. , Hill, Alyssa , Meldrum, Cliff , Scott, Rodney J.
- Resource Type: journal article
- Date: 2008
Genetic polymorphisms in xenobiotic clearance genes and their influence on disease expression in hereditary nonpolyposis colorectal cancer patients
- Creator: Talseth, Bente A. , Meldrum, Cliff , Suchy, Janina , Kurzawski, Grzegroz , Lubinski, Jan , Scott, Rodney J.
- Resource Type: journal article
- Date: 2006
Re: IGF-1 gene polymorphism and risk for hereditary nonpolyposis colorectal cancer
- Creator: Reeves, Stuart , Meldrum, Cliff , Scott, Rodney J.
- Resource Type: journal article
- Date: 2006