Breuning MH - Search Results

1

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: breuning mh. Am J Med Genet. 1994 Dec 1;53(4):352-4. doi: 10.1002/ajmg.1320530409. Am J Med Genet. 1994. PMID: 7864045

2

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

Taine L, Goizet C, Wen ZQ, Petrij F, Breuning MH, Aymé S, Saura R, Arveiler B, Lacombe D. Taine L, et al. Among authors: breuning mh. Am J Med Genet. 1998 Jul 7;78(3):267-70. Am J Med Genet. 1998. PMID: 9677064

3

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: breuning mh. 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.

4

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: breuning mh. 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

5

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

6

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

7

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: breuning mh. J Med Genet. 2004 Apr;41(4):249-55. doi: 10.1136/jmg.2003.014308. J Med Genet. 2004. PMID: 15060096 Free PMC article.

8

Inversion 16 and translocation (16;16) in ANLL M4eo break in the same subregion of the short arm of chromosome 16.

Wessels HW, Dauwerse HG, Breuning MH, Beverstock GC. Wessels HW, et al. Among authors: breuning mh. Cancer Genet Cytogenet. 1991 Dec;57(2):225-8. doi: 10.1016/0165-4608(91)90156-o. Cancer Genet Cytogenet. 1991. PMID: 1756502 No abstract available.

9

Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

Hennekam RC, Tilanus M, Hamel BC, Voshart-van Heeren H, Mariman EC, van Beersum SE, van den Boogaard MJ, Breuning MH. Hennekam RC, et al. Among authors: breuning mh. Am J Hum Genet. 1993 Feb;52(2):255-62. Am J Hum Genet. 1993. PMID: 8430692 Free PMC article.

10

Do human chromosomal bands 16p13 and 22q11-13 share ancestral origins?

Giles RH, Dauwerse HG, van Ommen GJ, Breuning MH. Giles RH, et al. Among authors: breuning mh. Am J Hum Genet. 1998 Oct;63(4):1240-2. doi: 10.1086/302044. Am J Hum Genet. 1998. PMID: 9758602 Free PMC article. No abstract available.

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