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Page 1
Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16).
Giles RH, Dauwerse JG, Higgins C, Petrij F, Wessels JW, Beverstock GC, Döhner H, Jotterand-Bellomo M, Falkenburg JH, Slater RM, van Ommen GJ, Hagemeijer A, van der Reijden BA, Breuning MH. Giles RH, et al. Among authors: petrij f. Leukemia. 1997 Dec;11(12):2087-96. doi: 10.1038/sj.leu.2400882. Leukemia. 1997. PMID: 9447825
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.
Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH. Petrij F, et al. J Med Genet. 2000 Mar;37(3):168-76. doi: 10.1136/jmg.37.3.168. J Med Genet. 2000. PMID: 10699051 Free PMC article.
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S. So J, et al. Among authors: petrij f. Am J Med Genet A. 2005 Jan 1;132A(1):1-7. doi: 10.1002/ajmg.a.30407. Am J Med Genet A. 2005. PMID: 15558842
16 results