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Comparison of Universal Versus Age-Restricted Screening of Colorectal Tumors for Lynch Syndrome Using Mismatch Repair Immunohistochemistry: A Cohort Study.
Li D, Hoodfar E, Jiang SF, Udaltsova N, Pham NP, Jodesty Y, Armstrong MA, Hung YY, Baker RJ, Postlethwaite D, Ladabaum U, Levin TR, Corley DA, Bergoffen J. Li D, et al. Among authors: bergoffen j. Ann Intern Med. 2019 Jul 2;171(1):19-26. doi: 10.7326/M18-3316. Epub 2019 Jun 11. Ann Intern Med. 2019. PMID: 31181578
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: bergoffen j. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039
Pharmacokinetics of sapropterin in patients with phenylketonuria.
Feillet F, Clarke L, Meli C, Lipson M, Morris AA, Harmatz P, Mould DR, Green B, Dorenbaum A, Giovannini M, Foehr E; Sapropterin Research Group. Feillet F, et al. Clin Pharmacokinet. 2008;47(12):817-25. doi: 10.2165/0003088-200847120-00006. Clin Pharmacokinet. 2008. PMID: 19026037 Clinical Trial.
Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.
Herasse M, Spentchian M, Taillandier A, Keppler-Noreuil K, Fliorito AN, Bergoffen J, Wallerstein R, Muti C, Simon-Bouy B, Mornet E. Herasse M, et al. Among authors: bergoffen j. J Med Genet. 2003 Aug;40(8):605-9. doi: 10.1136/jmg.40.8.605. J Med Genet. 2003. PMID: 12920074 Free PMC article. No abstract available.
18 results