Breuning M - Search Results

1

Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease.

Maat-Kievit A, Helderman-van den Enden P, Losekoot M, de Knijff P, Belfroid R, Vegter-van der Vlis M, Roos R, Breuning M. Maat-Kievit A, et al. Among authors: breuning m. Am J Med Genet. 2001 Dec 8;105(8):737-44. doi: 10.1002/ajmg.1610. Am J Med Genet. 2001. PMID: 11803522

2

Testing the test--why pursue a better test for Huntington disease?

Timman R, Maat-Kievit A, Brouwer-DudokdeWit C, Zoeteweij M, Breuning MH, Tibben A. Timman R, et al. Among authors: breuning mh. Am J Med Genet B Neuropsychiatr Genet. 2003 Feb;117B(1):79-85. doi: 10.1002/ajmg.b.10028. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 12555240

3

Predictability of age at onset in Huntington disease in the Dutch population.

Maat-Kievit A, Losekoot M, Zwinderman K, Vegter-van der Vlis M, Belfroid R, Lopez F, Van Ommen GJ, Breuning M, Roos R. Maat-Kievit A, et al. Among authors: breuning m. Medicine (Baltimore). 2002 Jul;81(4):251-9. doi: 10.1097/00005792-200207000-00001. Medicine (Baltimore). 2002. PMID: 12169880 Free article. No abstract available.

4

Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington's disease.

Maat-Schieman M, Roos R, Losekoot M, Dorsman J, Welling-Graafland C, Hegeman-Kleinn I, Broeyer F, Breuning M, van Duinen S. Maat-Schieman M, et al. Among authors: breuning m. Brain Pathol. 2007 Jan;17(1):31-7. doi: 10.1111/j.1750-3639.2006.00040.x. Brain Pathol. 2007. PMID: 17493035 Free PMC article.

5

New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles.

Maat-Kievit A, Losekoot M, Van Den Boer-Van Den Berg H, Van Ommen GJ, Niermeijer M, Breuning M, Tibben A. Maat-Kievit A, et al. Among authors: breuning m. J Med Genet. 2001 Apr;38(4):E12. doi: 10.1136/jmg.38.4.e12. J Med Genet. 2001. PMID: 11283208 Free PMC article. No abstract available.

6

RNF135 mutations are not present in patients with Sotos syndrome-like features.

Visser R, Koelma N, Vijfhuizen L, van der Wielen MJ, Kant SG, Breuning MH, Wit JM, Losekoot M. Visser R, et al. Among authors: breuning mh. Am J Med Genet A. 2009 Feb 15;149A(4):806-8. doi: 10.1002/ajmg.a.32694. Am J Med Genet A. 2009. PMID: 19291764 No abstract available.

7

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

Losekoot M, Haarloo C, Ruivenkamp C, White SJ, Breuning MH, Peters DJ. Losekoot M, et al. Among authors: breuning mh. Hum Genet. 2005 Nov;118(2):185-206. doi: 10.1007/s00439-005-0027-7. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16133180

8

[Molecular diagnosis on indication of maturity onset diabetes of the young; results from 184 patients].

Losekoot M, Broekman AJ, Breuning MH, de Koning EJ, Romijn JA, Maassen JA. Losekoot M, et al. Among authors: breuning mh. Ned Tijdschr Geneeskd. 2005 Jan 15;149(3):139-43. Ned Tijdschr Geneeskd. 2005. PMID: 15693590 Dutch.

9

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ. Sun Y, et al. Among authors: breuning mh. Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11. Hum Mutat. 2013. PMID: 23418007

10

[From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].

Taschner PE, Losekoot M, Breuning MH, Hofman I, van Diggelen OP. Taschner PE, et al. Among authors: breuning mh. Ned Tijdschr Geneeskd. 2005 Feb 5;149(6):300-3. Ned Tijdschr Geneeskd. 2005. PMID: 15730038 Review. Dutch.

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