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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: prior tw. Hum Genet. 2001 Feb;108(2):109-15. doi: 10.1007/s004390000446. Hum Genet. 2001. PMID: 11281448
Mutation screening in juvenile polyposis syndrome.
Pyatt RE, Pilarski R, Prior TW. Pyatt RE, et al. Among authors: prior tw. J Mol Diagn. 2006 Feb;8(1):84-8. doi: 10.2353/jmoldx.2006.050072. J Mol Diagn. 2006. PMID: 16436638 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: prior tw. 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: prior tw. Cancer Res. 2006 Aug 1;66(15):7810-7. doi: 10.1158/0008-5472.CAN-06-1114. Cancer Res. 2006. PMID: 16885385
Germline mosaicism at the fragile X locus.
Prior TW, Papp AC, Snyder PJ, Sedra MS, Guida M, Enrile BG. Prior TW, et al. Am J Med Genet. 1995 Jan 30;55(3):384-6. doi: 10.1002/ajmg.1320550327. Am J Med Genet. 1995. PMID: 7726241
A molecular protocol for diagnosing myotonic dystrophy.
Guida M, Marger RS, Papp AC, Snyder PJ, Sedra MS, Kissel JT, Mendell JR, Prior TW. Guida M, et al. Among authors: prior tw. Clin Chem. 1995 Jan;41(1):69-72. Clin Chem. 1995. PMID: 7813083
175 results