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

Genetic variation analysis of MLP, TFAP2A, and CSK in patients with neural tube defects.

Klootwijk R, Hol FA, Wu M, Willemen JJ, Groenen P, Hamel B, Straatman H, Steegers-Theunissen RP, Mariman EC, Franke B. Klootwijk R, et al. Among authors: hol fa. J Med Genet. 2003 Apr;40(4):e43. doi: 10.1136/jmg.40.4.e43. J Med Genet. 2003. PMID: 12676916 Free PMC article. No abstract available.

3

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

4

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

5

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP. Janssen AJ, et al. Among authors: hol fa. Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328. Ann Neurol. 2008. PMID: 18306232

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

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.

8

Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle.

Smits BW, Hol FA, van den Heuvel LP, Drost G, Rodenburg RJ, Ter Laak HJ, van Engelen BG. Smits BW, et al. Among authors: hol fa. J Neurol. 2007 Nov;254(11):1614-5. doi: 10.1007/s00415-007-0608-6. Epub 2007 Nov 2. J Neurol. 2007. PMID: 17965958 No abstract available.

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 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

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