Breuning M - Search Results

1

Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?

Aten E, den Hollander N, Ruivenkamp C, Knijnenburg J, van Bokhoven H, den Dunnen J, Breuning M. Aten E, et al. Among authors: breuning m. Am J Med Genet A. 2009 May;149A(5):975-81. doi: 10.1002/ajmg.a.32748. Am J Med Genet A. 2009. PMID: 19353584

2

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

Gijsbers AC, Bijlsma EK, Weiss MM, Bakker E, Breuning MH, Hoffer MJ, Ruivenkamp CA. Gijsbers AC, et al. Among authors: breuning mh. Eur J Med Genet. 2008 Sep-Oct;51(5):479-87. doi: 10.1016/j.ejmg.2008.04.003. Epub 2008 May 3. Eur J Med Genet. 2008. PMID: 18547887

3

A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features.

Dauwerse JG, Ruivenkamp CA, Hansson K, Marijnissen GM, Peters DJ, Breuning MH, Hilhorst-Hofstee Y. Dauwerse JG, et al. Among authors: breuning mh. Am J Med Genet A. 2010 Feb;152A(2):427-33. doi: 10.1002/ajmg.a.33203. Am J Med Genet A. 2010. PMID: 20082467

4

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M. Santen GW, et al. Among authors: breuning mh. Nat Genet. 2012 Mar 18;44(4):379-80. doi: 10.1038/ng.2217. Nat Genet. 2012. PMID: 22426309

5

Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia.

Nielsen M, Vermont CL, Aten E, Ruivenkamp CA, van Herrewegen F, Santen GW, Breuning MH. Nielsen M, et al. Among authors: breuning mh. J Med Genet. 2012 Sep;49(9):598-600. doi: 10.1136/jmedgenet-2012-100990. J Med Genet. 2012. PMID: 22972950

6

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: breuning mh. 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.

7

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

Kriek M, White SJ, Szuhai K, Knijnenburg J, van Ommen GJ, den Dunnen JT, Breuning MH. Kriek M, et al. Among authors: breuning mh. Eur J Hum Genet. 2006 Feb;14(2):180-9. doi: 10.1038/sj.ejhg.5201540. Eur J Hum Genet. 2006. PMID: 16391556

8

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.

Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH, Rosenberg C. Kriek M, et al. Among authors: breuning mh. Hum Genet. 2006 Aug;120(1):77-84. doi: 10.1007/s00439-006-0185-2. Epub 2006 May 18. Hum Genet. 2006. PMID: 16708226

9

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC. Lesnik Oberstein SA, et al. Among authors: breuning mh. Am J Hum Genet. 2006 Sep;79(3):562-6. doi: 10.1086/507567. Epub 2006 Jul 19. Am J Hum Genet. 2006. PMID: 16909395 Free PMC article.

10

Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH.

Kriek M, Knijnenburg J, White SJ, Rosenberg C, den Dunnen JT, van Ommen GJ, Tanke HJ, Breuning MH, Szuhai K. Kriek M, et al. Among authors: breuning mh. Am J Med Genet A. 2007 Mar 15;143A(6):610-4. doi: 10.1002/ajmg.a.31593. Am J Med Genet A. 2007. PMID: 17318845 No abstract available.

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