Publications by authors named "Frans Hol"

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A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
An I Jonckheere, Marije Hogeveen, Leo Nijtmans, Mariel van den Brand, Antoon Janssen, Frans Hol

BMJ Case Rep· November 2011

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Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.
Barend F T Hogewind, Ronald J E Pennings, Frans A Hol, Henricus P M Kunst, Elisabeth H Hoefsloot

Mol Vis· January 2010

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Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Carlo L M Marcelis, Frans A Hol, Gail E Graham, Paul N M A Rieu, Richard Kellermayer

Hum Mutat· September 2008

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Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection.
Carolien G F de Kovel, Barbara Franke, Frans A Hol, Jérémie J P Lebrec, Ben Maassen

Am J Med Genet B Neuropsychiatr Genet· April 2008

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Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
Antoon J M Janssen, Markus Schuelke, Jan A M Smeitink, Frans J M Trijbels, Rob C A Sengers, Frans A Hol

Ann Neurol· April 2008

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Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.
Klara Flipsen-ten Berg, Peter M van Hasselt, Marc J Eleveld, Suzanne E van der Wijst, Frans A Hol

Eur J Hum Genet· November 2007

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Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle.
Bart W Smits, Frans A Hol, Lambert P van den Heuvel, Gea Drost, Richard J T Rodenburg

J Neurol· November 2007

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Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
Marcel M Verbeek, Gerry C H Steenbergen-Spanjers, Michèl A A P Willemsen, Frans A Hol, Jan Smeitink

Ann Neurol· October 2007

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Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation.
Gretha van de Glind, Maaike de Vries, Richard Rodenburg, Frans Hol, Jan Smeitink

Eur J Paediatr Neurol· July 2007

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Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
Nicola M Solomon, Shelley A Ross, Susan M Forrest, Paul Q Thomas, Thomas Morgan, Frans A Hol

J Med Genet· April 2007

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The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.
E Mariken Ruiter, Marloes H Siers, Christa van den Elzen, Baziel G van Engelen, Jan A M Smeitink, Frans A Hol

Eur J Hum Genet· February 2007

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Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.
Eva Morava, Ben Hamel, Frans Hol, Richard Rodenburg, Jan Smeitink

Am J Med Genet A· October 2006

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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.
Marieke J H Coenen, Jan A M Smeitink, Jeanette M Pots, Edwin van Kaauwen, Frans J M Trijbels, Frans A Hol

J Child Neurol· June 2006

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Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.
Eva Morava, Richard Rodenburg, Frans Hol, Linda De Meirleir, Sara Seneca

Am J Med Genet A· April 2006

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Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.
Eva Morava, Richard J Rodenburg, Frans Hol, Maaike de Vries, Antoon Janssen

Am J Med Genet A· April 2006

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Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.
Riko Klootwijk, Pascal Groenen, Mascha Schijvenaars, Frans Hol, Ben Hamel

Am J Med Genet A· January 2004

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No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease.
Dirk J de Jong, Barbara Franke, Anton H J Naber, Judith J H T Willemen, Angelien J G A M Heister, Frans A Hol

Eur J Hum Genet· November 2003

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Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.
Nine V A M Knoers, Ernie M H F Bongers, Sylvia E C VAN Beersum, Ed J P Lommen, Hans VAN Bokhoven, Frans A Hol

J Am Soc Nephrol· September 2000

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