Verheij J - Search Results

1

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

Burzynski GM, Nolte IM, Osinga J, Ceccherini I, Twigt B, Maas S, Brooks A, Verheij J, Plaza Menacho I, Buys CH, Hofstra RM. Burzynski GM, et al. Among authors: verheij j. Eur J Hum Genet. 2004 Aug;12(8):604-12. doi: 10.1038/sj.ejhg.5201199. Eur J Hum Genet. 2004. PMID: 15138456

2

Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.

Verheij JB, Bouman K, van Lingen RA, van Lookeren Campagne JG, Leegte B, van der Veen AY, Hofstra RM, Buys CH, van Essen AJ. Verheij JB, et al. Am J Med Genet. 1999 Sep 10;86(2):168-73. doi: 10.1002/(sici)1096-8628(19990910)86:2<168::aid-ajmg16>3.0.co;2-q. Am J Med Genet. 1999. PMID: 10449655 Review.

3

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.

Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM. Verheij JB, et al. Am J Med Genet. 2002 Mar 15;108(3):223-5. doi: 10.1002/ajmg.10172. Am J Med Genet. 2002. PMID: 11891690

4

Preconceptional screening of couples for carriers of cystic fibrosis: a prospective evaluation of effects, costs and savings for different mutation detection methods.

Verheij JB, Wildhagen MF, Hofstra RM, Pals G, Habbema JD, ten Kate LP. Verheij JB, et al. Community Genet. 1999;2(2-3):74-81. doi: 10.1159/000016190. Community Genet. 1999. PMID: 15181337

5

Identifying candidate Hirschsprung disease-associated RET variants.

Burzynski GM, Nolte IM, Bronda A, Bos KK, Osinga J, Plaza Menacho I, Twigt B, Maas S, Brooks AS, Verheij JB, Buys CH, Hofstra RM. Burzynski GM, et al. Among authors: verheij jb. Am J Hum Genet. 2005 May;76(5):850-8. doi: 10.1086/429589. Epub 2005 Mar 9. Am J Hum Genet. 2005. PMID: 15759212 Free PMC article.

6

FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions.

Dijkhuizen T, van Essen T, van der Vlies P, Verheij JB, Sikkema-Raddatz B, van der Veen AY, Gerssen-Schoorl KB, Buys CH, Kok K. Dijkhuizen T, et al. Among authors: verheij jb. Am J Med Genet A. 2006 Nov 15;140(22):2482-7. doi: 10.1002/ajmg.a.31487. Am J Med Genet A. 2006. PMID: 17036314

7

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ. van der Hout AH, et al. Among authors: verheij jb. Eur J Hum Genet. 2008 Jun;16(6):673-9. doi: 10.1038/sj.ejhg.5202012. Epub 2008 Jan 30. Eur J Hum Genet. 2008. PMID: 18231121

8

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.

van Silfhout AT, van den Akker PC, Dijkhuizen T, Verheij JB, Olderode-Berends MJ, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM. van Silfhout AT, et al. Among authors: verheij jb. Eur J Hum Genet. 2009 Nov;17(11):1432-8. doi: 10.1038/ejhg.2009.72. Epub 2009 Apr 29. Eur J Hum Genet. 2009. PMID: 19401716 Free PMC article.

9

Fine mapping of the 9q31 Hirschsprung's disease locus.

Tang CS, Sribudiani Y, Miao XP, de Vries AR, Burzynski G, So MT, Leon YY, Yip BH, Osinga J, Hui KJ, Verheij JB, Cherny SS, Tam PK, Sham PC, Hofstra RM, Garcia-Barceló MM. Tang CS, et al. Among authors: verheij jb. Hum Genet. 2010 Jun;127(6):675-83. doi: 10.1007/s00439-010-0813-8. Epub 2010 Apr 2. Hum Genet. 2010. PMID: 20361209 Free PMC article.

10

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A. Emison ES, et al. Among authors: verheij jb. Am J Hum Genet. 2010 Jul 9;87(1):60-74. doi: 10.1016/j.ajhg.2010.06.007. Am J Hum Genet. 2010. PMID: 20598273 Free PMC article.

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