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669 results

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Page 1
Recurrent germline mutation in MSH2 arises frequently de novo.
Desai DC, Lockman JC, Chadwick RB, Gao X, Percesepe A, Evans DG, Miyaki M, Yuen ST, Radice P, Maher ER, Wright FA, de La Chapelle A. Desai DC, et al. Among authors: de la chapelle a. J Med Genet. 2000 Sep;37(9):646-52. doi: 10.1136/jmg.37.9.646. J Med Genet. 2000. PMID: 10978353 Free PMC article.
Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome.
Pearlman R, Haraldsdottir S, de la Chapelle A, Jonasson JG, Liyanarachchi S, Frankel WL, Rafnar T, Stefansson K, Pritchard CC, Hampel H. Pearlman R, et al. Among authors: de la chapelle a. J Med Genet. 2019 Jul;56(7):462-470. doi: 10.1136/jmedgenet-2018-105698. Epub 2019 Mar 15. J Med Genet. 2019. PMID: 30877237 Free PMC article.
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
Clendenning M, Senter L, Hampel H, Robinson KL, Sun S, Buchanan D, Walsh MD, Nilbert M, Green J, Potter J, Lindblom A, de la Chapelle A. Clendenning M, et al. Among authors: de la chapelle a. J Med Genet. 2008 Jun;45(6):340-5. doi: 10.1136/jmg.2007.056150. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178629 Free PMC article.
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I, de la Chapelle A. Hampel H, et al. Among authors: de la chapelle a. N Engl J Med. 2005 May 5;352(18):1851-60. doi: 10.1056/NEJMoa043146. N Engl J Med. 2005. PMID: 15872200 Free article.
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.
Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, La Jeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, Penzone P, Lombardi J, Dunn P, Cohn DE, Copeland L, Eaton L, Fowler J, Lewandowski G, Vaccarello L, Bell J, Reid G, de la Chapelle A. Hampel H, et al. Among authors: la jeunesse j, de la chapelle a. Cancer Res. 2006 Aug 1;66(15):7810-7. doi: 10.1158/0008-5472.CAN-06-1114. Cancer Res. 2006. PMID: 16885385
Identifying Lynch syndrome.
de la Chapelle A, Palomaki G, Hampel H. de la Chapelle A, et al. Int J Cancer. 2009 Sep 15;125(6):1492-3. doi: 10.1002/ijc.24491. Int J Cancer. 2009. PMID: 19536819 Free PMC article. No abstract available.
669 results