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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: de la chapelle a. Hum Genet. 2001 Feb;108(2):109-15. doi: 10.1007/s004390000446. Hum Genet. 2001. PMID: 11281448
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: de la chapelle a. 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. Among authors: de la chapelle a. 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
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.
Candidate tumor suppressor RIZ is frequently involved in colorectal carcinogenesis.
Chadwick RB, Jiang GL, Bennington GA, Yuan B, Johnson CK, Stevens MW, Niemann TH, Peltomaki P, Huang S, de la Chapelle A. Chadwick RB, et al. Among authors: de la chapelle a. Proc Natl Acad Sci U S A. 2000 Mar 14;97(6):2662-7. doi: 10.1073/pnas.040579497. Proc Natl Acad Sci U S A. 2000. PMID: 10688904 Free PMC article.
Loss of imprinting of the insulin-like growth factor II gene occurs by biallelic methylation in a core region of H19-associated CTCF-binding sites in colorectal cancer.
Nakagawa H, Chadwick RB, Peltomaki P, Plass C, Nakamura Y, de La Chapelle A. Nakagawa H, et al. Among authors: de la chapelle a. Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):591-6. doi: 10.1073/pnas.98.2.591. Epub 2000 Dec 19. Proc Natl Acad Sci U S A. 2001. PMID: 11120891 Free PMC article.
669 results