Hol FA - Search Results

1

Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection.

de Kovel CG, Franke B, Hol FA, Lebrec JJ, Maassen B, Brunner H, Padberg GW, Platko J, Pauls D. de Kovel CG, et al. Among authors: hol fa. Am J Med Genet B Neuropsychiatr Genet. 2008 Apr 5;147(3):294-300. doi: 10.1002/ajmg.b.30598. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 17886254

2

Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family.

de Kovel CG, Hol FA, Heister JG, Willemen JJ, Sandkuijl LA, Franke B, Padberg GW. de Kovel CG, et al. Among authors: hol fa. J Med Genet. 2004 Sep;41(9):652-7. doi: 10.1136/jmg.2003.012294. J Med Genet. 2004. PMID: 15342694 Free PMC article.

3

No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease.

de Jong DJ, Franke B, Naber AH, Willemen JJ, Heister AJ, Brunner HG, de Kovel CG, Hol FA. de Jong DJ, et al. Among authors: hol fa. Eur J Hum Genet. 2003 Nov;11(11):884-7. doi: 10.1038/sj.ejhg.5201058. Eur J Hum Genet. 2003. PMID: 14571275

4

Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.

Klootwijk R, Groenen P, Schijvenaars M, Hol F, Hamel B, Straatman H, Steegers-Theunissen R, Mariman E, Franke B. Klootwijk R, et al. Am J Med Genet A. 2004 Jan 1;124A(1):40-7. doi: 10.1002/ajmg.a.20402. Am J Med Genet A. 2004. PMID: 14679585

5

A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects.

Klootwijk R, Franke B, van der Zee CE, de Boer RT, Wilms W, Hol FA, Mariman EC. Klootwijk R, et al. Among authors: hol fa. Hum Mol Genet. 2000 Jul 1;9(11):1615-22. doi: 10.1093/hmg/9.11.1615. Hum Mol Genet. 2000. PMID: 10861288

6

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.

Van Reeuwijk J, Olderode-Berends MJ, Van den Elzen C, Brouwer OF, Roscioli T, Van Pampus MG, Scheffer H, Brunner HG, Van Bokhoven H, Hol FA. Van Reeuwijk J, et al. Among authors: hol fa. Clin Genet. 2010 Sep;78(3):275-81. doi: 10.1111/j.1399-0004.2010.01384.x. Epub 2010 Feb 11. Clin Genet. 2010. PMID: 20236121

7

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Marcelis CL, et al. Among authors: hol fa. Hum Mutat. 2008 Sep;29(9):1125-32. doi: 10.1002/humu.20750. Hum Mutat. 2008. PMID: 18470948

8

Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.

Hol FA, Hamel BC, Geurds MP, Hansmann I, Nabben FA, Daniëls O, Mariman EC. Hol FA, et al. Hum Genet. 1995 Jun;95(6):687-90. doi: 10.1007/BF00209488. Hum Genet. 1995. PMID: 7789956 Free article.

9

Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.

Morava E, Hamel B, Hol F, Rodenburg R, Smeitink J. Morava E, et al. Am J Med Genet A. 2006 Oct 15;140(20):2248-50. doi: 10.1002/ajmg.a.31452. Am J Med Genet A. 2006. PMID: 16969869 No abstract available.

10

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.

Morava E, Rodenburg RJ, Hol F, de Vries M, Janssen A, van den Heuvel L, Nijtmans L, Smeitink J. Morava E, et al. Am J Med Genet A. 2006 Apr 15;140(8):863-8. doi: 10.1002/ajmg.a.31194. Am J Med Genet A. 2006. PMID: 16532470

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