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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. Among authors: van karnebeek cd, van haeringen a, van ommen gj, van der smagt jj. 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.
FISH in genome research and molecular diagnostics.
van Ommen GJ, Breuning MH, Raap AK. van Ommen GJ, et al. Curr Opin Genet Dev. 1995 Jun;5(3):304-8. doi: 10.1016/0959-437x(95)80043-3. Curr Opin Genet Dev. 1995. PMID: 7549423 Review.
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard MJ, de Pater JM, Mariman EC, Hamel BC, Himmelbauer H, Frischauf AM, Stallings R, Beverstock GC, van Ommen GJ, Hennekam RC. Breuning MH, et al. Among authors: van den boogaard mj, van ommen gj, van der hagen cb. Am J Hum Genet. 1993 Feb;52(2):249-54. Am J Hum Genet. 1993. PMID: 8430691 Free PMC article.
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: van der reijden ba, van ommen gj. Leukemia. 1997 Dec;11(12):2087-96. doi: 10.1038/sj.leu.2400882. Leukemia. 1997. PMID: 9447825
Mutation detection in the repeated part of the PKD1 gene.
Roelfsema JH, Spruit L, Saris JJ, Chang P, Pirson Y, van Ommen GJ, Peters DJ, Breuning MH. Roelfsema JH, et al. Among authors: van ommen gj. Am J Hum Genet. 1997 Nov;61(5):1044-52. doi: 10.1086/301600. Am J Hum Genet. 1997. PMID: 9345095 Free PMC article.
410 results