The Rubinstein-Taybi syndrome and other malformations

 

 

Publications                                                                                      

Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RCM, Masuno M, Tommerup N, van  Ommen GJB, Goodman RH, Peters DJM, Breuning MH: Rubinstein-Taybi syndrome is caused  by mutations in the transcriptional co-activator CBP. Nature 376: 348‑351, 1995

Giles RH, Dauwerse HG, 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. Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16). Leukemia 11:2087-2096, 1997

Giles RH, Petrij F, Dauwerse JG, den Hollander AI, Lushnikova T, van Ommen GJB, Goodman  RH, Deaven LL, Doggett NA, Peters DJM, Breuning MH: Construction of a 1.2-Mb contig  surrounding and molecular analysis of, the human CREB‑binding protein (CBP/CREBBP) gene  on chromosome 16p13.3. Genomics 42: 96-114, 1997

Giles RH, Peters DJM, Breuning MH: Conjunction dysfunction: CBP/p300 in human disease.  Trends in Genet 14: 178-183, 1998

 Petrij F, Dorsman JC, Dauwerse HG, Giles RH, Peeters T, Hennekam RC, Breuning MH, Peters DJ. Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3). Am J Med Genet 2000; 92(1):47-52.                                               

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. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet 2000; 37(3):168-176.                

Petrij F, Giles RH, Breuning MH, Hennekam RC. Rubinstein-Taybi syndrome. In The Metabolic and Molecular Basis of Human Disease, 8th Edition, Scriver CR et al., Eds, Wiley-Liss, New York 2000.

 

Dauwerse JG, de Die-Smulders CE, Bakker E, Breuning MH, Peters DJ. Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect. J Med Genet 39, 686-688, 2002.

 

Eric Kalkhoven*, Jeroen H. Roelfsema2*, Hans Teunissen, Annemieke den Boer, Yavuz Ariyurek, Alt Zantema1, Martijn H. Breuning , Raoul C.M. Hennekam  and Dorien J.M. Peters

Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum. Mol. Genetics, 12 (4): 441-450, 2003.

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