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Items: 35


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.

Clin Genet. 2010 Sep;78(3):275-81. doi: 10.1111/j.1399-0004.2010.01384.x. Epub 2010 Feb 11.


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.

Mol Vis. 2010 Jan 12;16:26-35.


Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.

Hackett BC, Fitzgerald D, Watson RM, Hol FA, Irvine AD.

Br J Dermatol. 2010 Feb 1;162(2):448-51. doi: 10.1111/j.1365-2133.2009.09537.x. Epub 2009 Oct 26. No abstract available.


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.

Hum Mutat. 2008 Sep;29(9):1125-32. doi: 10.1002/humu.20750.


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.

Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328.


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.

J Neurol. 2007 Nov;254(11):1614-5. Epub 2007 Nov 2. No abstract available.


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.

J Med Genet. 2008 Mar;45(3):129-33. Epub 2007 Oct 22.


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.

Am J Med Genet B Neuropsychiatr Genet. 2008 Apr 5;147(3):294-300.


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.

Ann Neurol. 2007 Oct;62(4):422-6.


Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

Flipsen-ten Berg K, van Hasselt PM, Eleveld MJ, van der Wijst SE, Hol FA, de Vroede MA, Beemer FA, Hochstenbach PF, Poot M.

Eur J Hum Genet. 2007 Nov;15(11):1132-8. Epub 2007 Jul 18.


Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.

Solomon NM, Ross SA, Forrest SM, Thomas PQ, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL.

J Med Genet. 2007 Apr;44(4):e75. No abstract available.


The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.

Ruiter EM, Siers MH, van den Elzen C, van Engelen BG, Smeitink JA, Rodenburg RJ, Hol FA.

Eur J Hum Genet. 2007 Feb;15(2):155-61. Epub 2006 Nov 15.


Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.

Coenen MJ, Smeitink JA, Pots JM, van Kaauwen E, Trijbels FJ, Hol FA, van den Heuvel LP.

J Child Neurol. 2006 Jun;21(6):508-11.


Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis.

Löwik MM, Hol FA, Steenbergen EJ, Wetzels JF, van den Heuvel LP.

Nephrol Dial Transplant. 2005 Feb;20(2):336-41. Epub 2004 Dec 7.


Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.

Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ.

J Med Genet. 2004 Sep;41(9):669-78.


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.

J Med Genet. 2004 Sep;41(9):652-7.


Tall stature and progressive overweight in mitochondrial encephalopathy.

Morava E, Hol FA, Janssen A, Smeitink J.

J Inherit Metab Dis. 2003;26(7):720-2.


Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene.

Grafakou O, Hol FA, Otfried Schwab K, Siers MH, ter Laak H, Trijbels F, Ensenauer R, Boelen C, Smeitink J.

J Inherit Metab Dis. 2003;26(6):593-600.


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.

Eur J Hum Genet. 2003 Nov;11(11):884-7.


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.

J Med Genet. 2003 Apr;40(4):e43. No abstract available.


Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.

Hol FA, Schepens MT, van Beersum SE, Redolfi E, Affer M, Vezzoni P, Hamel BC, Karnes PS, Mariman EC, Zucchi I.

Genomics. 2000 Oct 15;69(2):174-81.


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

Knoers NV, Bongers EM, van Beersum SE, Lommen EJ, van Bokhoven H, Hol FA.

J Am Soc Nephrol. 2000 Sep;11(9):1762-6.


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.

Hum Mol Genet. 2000 Jul 1;9(11):1615-22.


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.

Eur J Hum Genet. 1999 Jan;7(1):68-76.


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.

Ann Hum Genet. 1998 Sep;62(Pt 5):379-96.


Altered regulation of platelet-derived growth factor receptor-alpha gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins.

Joosten PH, Hol FA, van Beersum SE, Peters H, Hamel BC, Afink GB, van Zoelen EJ, Mariman EC.

Proc Natl Acad Sci U S A. 1998 Nov 24;95(24):14459-63.


Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).

Hol FA, Geurds MP, Cremers CW, Hamel BC, Mariman EC.

Hum Mutat. 1998;Suppl 1:S145-7. No abstract available.


PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

Hol FA, Geurds MP, Chatkupt S, Shugart YY, Balling R, Schrander-Stumpel CT, Johnson WG, Hamel BC, Mariman EC.

J Med Genet. 1996 Aug;33(8):655-60.


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.

Hum Genet. 1995 Jun;95(6):687-90.


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.

J Med Genet. 1995 Mar;32(3):200-4.


A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Hol FA, Hamel BC, Geurds MP, Mullaart RA, Barr FG, Macina RA, Mariman EC.

J Med Genet. 1995 Jan;32(1):52-6.


Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family.

Hol FA, Geurds MP, Jensson O, Hamel BC, Moore GE, Newton R, Mariman EC.

Hum Genet. 1994 Apr;93(4):452-6.


Improving the polymorphism content of the 3' UTR of the human IGF2R gene.

Hol FA, Geurds MP, Hamel BC, Mariman EC.

Hum Mol Genet. 1992 Aug;1(5):347. No abstract available.


Presence of hybridizing DNA sequences homologous to bovine acidic and basic beta-crystallins in all classes of vertebrates.

van Rens GL, Hol FA, de Jong WW, Bloemendal H.

J Mol Evol. 1991 Nov;33(5):457-63.


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