van Belzen MJ - Search Results

1

A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.

van Belzen MJ, Hiel JA, Weemaes CM, Gabreëls FJ, van Engelen BG, Smeets DF, van den Heuvel LP. van Belzen MJ, et al. Among authors: van engelen bg, van den heuvel lp. Hum Genet. 1998 Feb;102(2):187-91. doi: 10.1007/s004390050675. Hum Genet. 1998. PMID: 9521587

2

CTLA4 +49 A/G and CT60 polymorphisms in Dutch coeliac disease patients.

van Belzen MJ, Mulder CJ, Zhernakova A, Pearson PL, Houwen RH, Wijmenga C. van Belzen MJ, et al. Eur J Hum Genet. 2004 Sep;12(9):782-5. doi: 10.1038/sj.ejhg.5201165. Eur J Hum Genet. 2004. PMID: 15199380

3

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: van belzen mj, van ravenswaaij arts cm. 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

4

TEAM: a tool for the integration of expression, and linkage and association maps.

Franke L, van Bakel H, Diosdado B, van Belzen M, Wapenaar M, Wijmenga C. Franke L, et al. Eur J Hum Genet. 2004 Aug;12(8):633-8. doi: 10.1038/sj.ejhg.5201215. Eur J Hum Genet. 2004. PMID: 15114375

5

A new mutation for Huntington disease following maternal transmission of an intermediate allele.

Semaka A, Kay C, Belfroid RD, Bijlsma EK, Losekoot M, van Langen IM, van Maarle MC, Oosterloo M, Hayden MR, van Belzen MJ. Semaka A, et al. Among authors: van belzen mj, van maarle mc, van langen im. Eur J Med Genet. 2015 Jan;58(1):28-30. doi: 10.1016/j.ejmg.2014.11.005. Epub 2014 Nov 20. Eur J Med Genet. 2015. PMID: 25464109

6

A genomewide screen in a four-generation Dutch family with celiac disease: evidence for linkage to chromosomes 6 and 9.

van Belzen MJ, Vrolijk MM, Meijer JW, Crusius JB, Pearson PL, Sandkuijl LA, Houwen RH, Wijmenga C. van Belzen MJ, et al. Am J Gastroenterol. 2004 Mar;99(3):466-71. doi: 10.1111/j.1572-0241.2004.04072.x. Am J Gastroenterol. 2004. PMID: 15056087

7

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA, Scott RH. Klaassens M, et al. Eur J Hum Genet. 2015 May;23(5):610-5. doi: 10.1038/ejhg.2014.162. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118028 Free PMC article. Review.

8

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008.

van Rij MC, de Koning Gans PA, Aalfs CM, Elting M, Ippel PF, Maat-Kievit JA, Vermeer S, Verschuuren-Bemelmans CC, van Belzen MJ, Belfroid RD, Losekoot M, Geraedts JP, Roos RA, Tibben A, de Die-Smulders CE, Bijlsma EK. van Rij MC, et al. Among authors: van belzen mj. Clin Genet. 2014 Jan;85(1):78-86. doi: 10.1111/cge.12090. Epub 2013 Mar 27. Clin Genet. 2014. PMID: 23350614

9

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Fergelot P, et al. Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20. Am J Med Genet A. 2016. PMID: 27648933

10

Rubinstein-Taybi syndrome (CREBBP, EP300).

van Belzen M, Bartsch O, Lacombe D, Peters DJ, Hennekam RC. van Belzen M, et al. Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.124. Epub 2010 Jul 28. Eur J Hum Genet. 2011. PMID: 20664634 Free PMC article. No abstract available.

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