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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: chadwick rb. 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.
The I1307K polymorphism of the APC gene in colorectal cancer.
Prior TW, Chadwick RB, Papp AC, Arcot AN, Isa AM, Pearl DK, Stemmermann G, Percesepe A, Loukola A, Aaltonen LA, De La Chapelle A. Prior TW, et al. Among authors: chadwick rb. Gastroenterology. 1999 Jan;116(1):58-63. doi: 10.1016/s0016-5085(99)70229-5. Gastroenterology. 1999. PMID: 9869603 Clinical Trial.
Polymorphisms in a pseudogene highly homologous to PMS2.
Chadwick RB, Meek JE, Prior TW, Peltomaki P, de La Chapelle A. Chadwick RB, et al. Hum Mutat. 2000 Dec;16(6):530. doi: 10.1002/1098-1004(200012)16:6<530::AID-HUMU15>3.0.CO;2-6. Hum Mutat. 2000. PMID: 11102987
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
Mailman MD, Hemingway T, Darsey RL, Glasure CE, Huang Y, Chadwick RB, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Schafer RW, Abuelo DN, Reich EW, Theil KS, Burghes AH, de la Chapelle A, Prior TW. Mailman MD, et al. Among authors: chadwick rb. Hum Genet. 2001 Feb;108(2):109-15. doi: 10.1007/s004390000446. Hum Genet. 2001. PMID: 11281448
46 results