Dauwerse HG - Search Results

1

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.

McGaughran JM, Gaunt L, Dore J, Petrij F, Dauwerse HG, Donnai D. McGaughran JM, et al. Among authors: dauwerse hg. J Med Genet. 1996 Jan;33(1):82-3. doi: 10.1136/jmg.33.1.82. J Med Genet. 1996. PMID: 8825057 Free PMC article.

2

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: dauwerse hg. 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.

3

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: dauwerse hg. 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

4

Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.

Masuno M, Imaizumi K, Kurosawa K, Makita Y, Petrij F, Dauwerse HG, Breuning MH, Kuroki Y. Masuno M, et al. Among authors: dauwerse hg. Am J Med Genet. 1994 Dec 1;53(4):352-4. doi: 10.1002/ajmg.1320530409. Am J Med Genet. 1994. PMID: 7864045

5

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: dauwerse hg. Genomics. 1997 May 15;42(1):96-114. doi: 10.1006/geno.1997.4699. Genomics. 1997. PMID: 9177780

6

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: dauwerse hg. Nature. 1995 Jul 27;376(6538):348-51. doi: 10.1038/376348a0. Nature. 1995. PMID: 7630403

7

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: dauwerse hg. Am J Hum Genet. 1993 Feb;52(2):249-54. Am J Hum Genet. 1993. PMID: 8430691 Free PMC article.

8

A case of de novo interstitial deletion of chromosome 5(q33q34).

Giltay JC, Gerssen-Schoorl KB, Luitse GH, Dauwerse HG. Giltay JC, et al. Among authors: dauwerse hg. Clin Genet. 1997 Sep;52(3):173-6. doi: 10.1111/j.1399-0004.1997.tb02539.x. Clin Genet. 1997. PMID: 9377807

9

Genomic imbalances in mental retardation.

Kriek M, White SJ, Bouma MC, Dauwerse HG, Hansson KB, Nijhuis JV, Bakker B, van Ommen GJ, den Dunnen JT, Breuning MH. Kriek M, et al. Among authors: dauwerse hg. J Med Genet. 2004 Apr;41(4):249-55. doi: 10.1136/jmg.2003.014308. J Med Genet. 2004. PMID: 15060096 Free PMC article.

10

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito.

Eussen BH, Bartalini G, Bakker L, Balestri P, Di Lucca C, Van Hemel JO, Dauwerse H, van Den Ouweland AM, Ris-Stalpers C, Verhoef S, Halley DJ, Fois A. Eussen BH, et al. J Med Genet. 2000 Apr;37(4):287-91. doi: 10.1136/jmg.37.4.287. J Med Genet. 2000. PMID: 10745047 Free PMC article.

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