Hol FA[au] - Search Results

Year	Number of Results
1991	1
1992	1
1994	1
1995	3
1996	1
1998	4
1999	1
2000	3
2003	4
2004	3
2005	1
2006	2
2007	6
2008	4
2009	1
2010	3
2024	0

1

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

2

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.

Silahtaroglu A, Hol FA, Jensen PK, Erdel M, Duba HC, Geurds MP, Knoers NV, Mariman EC, Tümer Z, Utermann G, Wirth J, Bugge M, Tommerup N. Silahtaroglu A, et al. Among authors: hol fa. Eur J Hum Genet. 1999 Jan;7(1):68-76. doi: 10.1038/sj.ejhg.5200260. Eur J Hum Genet. 1999. PMID: 10094193

3

Susceptibility to spina bifida; an association study of five candidate genes.

Morrison K, Papapetrou C, Hol FA, Mariman EC, Lynch SA, Burn J, Edwards YH. Morrison K, et al. Among authors: hol fa. Ann Hum Genet. 1998 Sep;62(Pt 5):379-96. doi: 10.1046/j.1469-1809.1998.6250379.x. Ann Hum Genet. 1998. PMID: 10088035

4

Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.

Knoers NVAM, Bongers EMHF, Beersum SECV, Lommen EJP, Bokhoven HV, Hol FA. Knoers NVAM, et al. Among authors: hol fa. J Am Soc Nephrol. 2000 Sep;11(9):1762-1766. doi: 10.1681/ASN.V1191762. J Am Soc Nephrol. 2000. PMID: 10966502

5

Absence of linkage between familial neural tube defects and PAX3 gene.

Chatkupt S, Hol FA, Shugart YY, Geurds MP, Stenroos ES, Koenigsberger MR, Hamel BC, Johnson WG, Mariman EC. Chatkupt S, et al. Among authors: hol fa. J Med Genet. 1995 Mar;32(3):200-4. doi: 10.1136/jmg.32.3.200. J Med Genet. 1995. PMID: 7783169 Free PMC article.

6

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.

Hogewind BF, Pennings RJ, Hol FA, Kunst HP, Hoefsloot EH, Cruysberg JR, Cremers CW. Hogewind BF, et al. Among authors: hol fa. Mol Vis. 2010 Jan 12;16:26-35. Mol Vis. 2010. PMID: 20069065 Free PMC article.

7

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

Verbeek MM, Steenbergen-Spanjers GC, Willemsen MA, Hol FA, Smeitink J, Seeger J, Grattan-Smith P, Ryan MM, Hoffmann GF, Donati MA, Blau N, Wevers RA. Verbeek MM, et al. Among authors: hol fa. Ann Neurol. 2007 Oct;62(4):422-6. doi: 10.1002/ana.21199. Ann Neurol. 2007. PMID: 17696123

8

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

9

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

10

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

Jonckheere AI, Hogeveen M, Nijtmans LG, van den Brand MA, Janssen AJ, Diepstra JH, van den Brandt FC, van den Heuvel LP, Hol FA, Hofste TG, Kapusta L, Dillmann U, Shamdeen MG, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Among authors: hol fa. J Med Genet. 2008 Mar;45(3):129-33. doi: 10.1136/jmg.2007.052084. Epub 2007 Oct 22. J Med Genet. 2008. PMID: 17954552

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