Peters DJ - Search Results

1

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study; Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC. Menke LA, et al. Among authors: peters dj. Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27311832

2

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.

Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, et al. Petrij F, et al. Among authors: peters dj. Nature. 1995 Jul 27;376(6538):348-51. doi: 10.1038/376348a0. Nature. 1995. PMID: 7630403

3

Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.

Giles RH, Petrij F, Dauwerse HG, den Hollander AI, Lushnikova T, van Ommen GJ, Goodman RH, Deaven LL, Doggett NA, Peters DJ, Breuning MH. Giles RH, et al. Among authors: peters dj. Genomics. 1997 May 15;42(1):96-114. doi: 10.1006/geno.1997.4699. Genomics. 1997. PMID: 9177780

4

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: peters dj. 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.

5

Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3).

Petrij F, Dorsman JC, Dauwerse HG, Giles RH, Peeters T, Hennekam RC, Breuning MH, Peters DJ. Petrij F, et al. Among authors: peters dj. Am J Med Genet. 2000 May 1;92(1):47-52. doi: 10.1002/(sici)1096-8628(20000501)92:1<47::aid-ajmg8>3.0.co;2-h. Am J Med Genet. 2000. PMID: 10797422

6

Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.

Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A, Breuning MH, Hennekam RC, Peters DJ. Kalkhoven E, et al. Among authors: peters dj. Hum Mol Genet. 2003 Feb 15;12(4):441-50. doi: 10.1093/hmg/ddg039. Hum Mol Genet. 2003. PMID: 12566391

7

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Roelfsema JH, et al. Among authors: peters dj. Am J Hum Genet. 2005 Apr;76(4):572-80. doi: 10.1086/429130. Epub 2005 Feb 10. Am J Hum Genet. 2005. PMID: 15706485 Free PMC article.

8

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJ. Bartholdi D, et al. Among authors: peters dj. J Med Genet. 2007 May;44(5):327-33. doi: 10.1136/jmg.2006.046698. Epub 2007 Jan 12. J Med Genet. 2007. PMID: 17220215 Free PMC article.

9

Rubinstein-Taybi syndrome: clinical and molecular overview.

Roelfsema JH, Peters DJ. Roelfsema JH, et al. Among authors: peters dj. Expert Rev Mol Med. 2007 Aug 20;9(23):1-16. doi: 10.1017/S1462399407000415. Expert Rev Mol Med. 2007. PMID: 17942008 Review.

10

Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers.

Wieczorek D, Bartsch O, Lechno S, Kohlhase J, Peters DJ, Dauwerse H, Gillessen-Kaesbach G, Hennekam RC, Passarge E. Wieczorek D, et al. Among authors: peters dj. Am J Med Genet A. 2009 Dec;149A(12):2849-54. doi: 10.1002/ajmg.a.33129. Am J Med Genet A. 2009. PMID: 19938080

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