du Sart D - Search Results

1

Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds.

Scott RJ, McPhillips M, Meldrum CJ, Fitzgerald PE, Adams K, Spigelman AD, du Sart D, Tucker K, Kirk J. Scott RJ, et al. Among authors: du sart d. Am J Hum Genet. 2001 Jan;68(1):118-127. doi: 10.1086/316942. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112663 Free PMC article.

2

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Among authors: du sart d. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.

3

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: du sart d. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.

4

Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC).

Li L, McVety S, Younan R, Liang P, Du Sart D, Gordon PH, Hutter P, Hogervorst FB, Chong G, Foulkes WD. Li L, et al. Among authors: du sart d. Hum Mutat. 2006 Apr;27(4):388. doi: 10.1002/humu.9417. Hum Mutat. 2006. PMID: 16541406

5

Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.

Cowie S, Drmanac S, Swanson D, Delgrosso K, Huang S, du Sart D, Drmanac R, Surrey S, Fortina P. Cowie S, et al. Among authors: du sart d. Hum Mutat. 2004 Sep;24(3):261-71. doi: 10.1002/humu.20078. Hum Mutat. 2004. PMID: 15300853

6

Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.

Thiffault I, Hamel N, Pal T, McVety S, Marcus VA, Farber D, Cowie S, Deschênes J, Meschino W, Odefrey F, Goldgar D, Graham T, Narod S, Watters AK, MacNamara E, Du Sart D, Chong G, Foulkes WD. Thiffault I, et al. Among authors: du sart d. Br J Cancer. 2004 Jan 26;90(2):483-91. doi: 10.1038/sj.bjc.6601424. Br J Cancer. 2004. PMID: 14735197 Free PMC article.

7

Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome.

Schmidt M, Certoma A, Du Sart D, Kalitsis P, Leversha M, Fowler K, Sheffield L, Jack I, Danks DM. Schmidt M, et al. Among authors: du sart d. Hum Genet. 1990 Mar;84(4):347-52. doi: 10.1007/BF00196232. Hum Genet. 1990. PMID: 2307456

8

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

Kraan CM, Bui QM, Field M, Archibald AD, Metcalfe SA, Christie LM, Bennetts BH, Oertel R, Smith MJ, du Sart D, Bruno D, Wotton TL, Amor DJ, Francis D, Godler DE. Kraan CM, et al. Among authors: du sart d. Genet Med. 2018 Dec;20(12):1627-1634. doi: 10.1038/gim.2018.52. Epub 2018 Mar 29. Genet Med. 2018. PMID: 29595813 Free article.

9

Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies.

Schmidt M, Du Sart D, Kalitsis P, Leversha M, Dale S, Sheffield L, Toniolo D. Schmidt M, et al. Among authors: du sart d. Hum Genet. 1991 Mar;86(5):519-21. doi: 10.1007/BF00194646. Hum Genet. 1991. PMID: 2016093

10

Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH.

Chow E, Lipton L, Lynch E, D'Souza R, Aragona C, Hodgkin L, Brown G, Winship I, Barker M, Buchanan D, Cowie S, Nasioulas S, du Sart D, Young J, Leggett B, Jass J, Macrae F. Chow E, et al. Among authors: du sart d, d souza r. Gastroenterology. 2006 Jul;131(1):30-9. doi: 10.1053/j.gastro.2006.03.046. Gastroenterology. 2006. PMID: 16831587

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