Scott RJ - Search Results

1

New EPCAM founder deletion in Polish population.

Dymerska D, Gołębiewska K, Kuświk M, Rudnicka H, Scott RJ, Billings R, Pławski A, Boruń P, Siołek M, Kozak-Klonowska B, Szwiec M, Kilar E, Huzarski T, Byrski T, Lubiński J, Kurzawski G. Dymerska D, et al. Among authors: scott rj. Clin Genet. 2017 Dec;92(6):649-653. doi: 10.1111/cge.13026. Epub 2017 Aug 3. Clin Genet. 2017. PMID: 28369810

2

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. 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.

3

Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.

Jakubowska A, Górski B, Kurzawski G, Debniak T, Hadaczek P, Cybulski C, Kladny J, Oszurek O, Scott RJ, Lubinski J. Jakubowska A, et al. Among authors: scott rj. Hum Mutat. 2001;17(1):52-60. doi: 10.1002/1098-1004(2001)17:1<52::AID-HUMU6>3.0.CO;2-E. Hum Mutat. 2001. PMID: 11139242

4

Detection of germline mutations in the BRCA1 gene by RNA-based sequencing.

Jakubowska A, Górski B, Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Debniak T, Hadaczek P, Scott RJ, Lubinski J. Jakubowska A, et al. Among authors: scott rj. Hum Mutat. 2001 Aug;18(2):149-56. doi: 10.1002/humu.1164. Hum Mutat. 2001. PMID: 11462239

5

Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography.

Kurzawski G, Safranow K, Suchy J, Chlubek D, Scott RJ, Lubiński J. Kurzawski G, et al. Among authors: scott rj. J Biochem Biophys Methods. 2002 Mar 4;51(1):89-100. doi: 10.1016/s0165-022x(02)00003-9. J Biochem Biophys Methods. 2002. PMID: 11879922

6

Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients.

Scott RJ, Crooks R, Meldrum CJ, Thomas L, Smith CJ, Mowat D, McPhillips M, Spigelman AD. Scott RJ, et al. Clin Genet. 2002 Oct;62(4):282-7. doi: 10.1034/j.1399-0004.2002.620405.x. Clin Genet. 2002. PMID: 12372054

7

BRCA2 gene mutations in families with aggregations of breast and stomach cancers.

Jakubowska A, Nej K, Huzarski T, Scott RJ, Lubiński J. Jakubowska A, et al. Among authors: scott rj. Br J Cancer. 2002 Oct 7;87(8):888-91. doi: 10.1038/sj.bjc.6600562. Br J Cancer. 2002. PMID: 12373604 Free PMC article.

8

Electro-oculographic and electroretinographic studies in HNPCC gene mutation carriers.

Lubiński W, Kurzawski G, Suchy J, Szych Z, Penkala K, Palacz O, Scott RJ, Lubiński J. Lubiński W, et al. Among authors: scott rj. Ophthalmic Res. 2003 Sep-Oct;35(5):281-94. doi: 10.1159/000072149. Ophthalmic Res. 2003. PMID: 12920342

9

Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations.

Thompson E, Meldrum CJ, Crooks R, McPhillips M, Thomas L, Spigelman AD, Scott RJ. Thompson E, et al. Among authors: scott rj. Clin Genet. 2004 Mar;65(3):215-25. doi: 10.1111/j.1399-0004.2004.00214.x. Clin Genet. 2004. PMID: 14756672

10

The NOD2 3020insC mutation and the risk of colorectal cancer.

Kurzawski G, Suchy J, Kładny J, Grabowska E, Mierzejewski M, Jakubowska A, Debniak T, Cybulski C, Kowalska E, Szych Z, Domagała W, Scott RJ, Lubiński J. Kurzawski G, et al. Among authors: scott rj. Cancer Res. 2004 Mar 1;64(5):1604-6. doi: 10.1158/0008-5472.can-03-3791. Cancer Res. 2004. PMID: 14996717

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