Genotype-phenotype correlations in MYCN-related Feingold syndrome
Marcelis, Carlo L.M, Hol, Frans A, Graham, Gail E, Rieu, Paul N.M.A, Kellermayer, Richard, Meijer, Rowdy P.P, Lugtenberg, Dorien, Scheffer, Hans, van Bokhoven, Hans, Brunner, Han G, de Brouwer, Arjan P.M
Published in Human mutation (01.09.2008)
Published in Human mutation (01.09.2008)
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Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1
Hogewind, Barend F T, Pennings, Ronald J E, Hol, Frans A, Kunst, Henricus P M, Hoefsloot, Elisabeth H, Cruysberg, Johannes R M, Cremers, Cor W R J
Published in Molecular vision (12.01.2010)
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Published in Molecular vision (12.01.2010)
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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
MARIKEN RUITER, E, SIERS, Marloes H, VAN DEN ELZEN, Christa, VAN ENGELEN, Baziel G, SMEITINK, Jan A. M, RODENBURG, Richard J, HOL, Frans A
Published in European journal of human genetics : EJHG (01.02.2007)
Published in European journal of human genetics : EJHG (01.02.2007)
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Journal Article
Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection
de Kovel, Carolien G.F., Franke, Barbara, Hol, Frans A., Lebrec, Jérémie J.P., Maassen, Ben, Brunner, Han, Padberg, George W., Platko, Jill, Pauls, David
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.04.2008)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.04.2008)
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Journal Article
Altered Regulation of Platelet-Derived Growth Factor receptor-α Gene-Transcription in vitro by Spina Bifida-Associated Mutant Pax1 Proteins
Paul H. L. J. Joosten, Hol, Frans A., Sylvia E. C. Van Beersum, Peters, Heiko, Ben C. J. Hamel, Afink, Gijs B., Everardus J. J. Van Zoelen, Edwin C. M. Mariman
Published in Proceedings of the National Academy of Sciences - PNAS (24.11.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (24.11.1998)
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Journal Article
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, Klara, VAN HASSELT, Peter M, ELEVELD, Marc J, VAN DER WIJST, Suzanne E, HOL, Frans A, DE VROEDE, Monique A. M, BEEMER, Frits A, RON HOCHSTENBACH, P. F, POOT, Martin
Published in European journal of human genetics : EJHG (01.11.2007)
Published in European journal of human genetics : EJHG (01.11.2007)
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Journal Article
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene
Verbeek, Marcel M., Steenbergen-Spanjers, Gerry C. H., Willemsen, Michèl A. A. P., Hol, Frans A., Smeitink, Jan, Seeger, Jürgen, Grattan-Smith, Padraic, Ryan, Monique M., Hoffmann, Georg F., Donati, Maria A., Blau, Nenad, Wevers, Ronald A.
Published in Annals of neurology (01.10.2007)
Published in Annals of neurology (01.10.2007)
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Journal Article
Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system
Janssen, Antoon J. M., Schuelke, Markus, Smeitink, Jan A. M., Trijbels, Frans J. M., Sengers, Rob C. A., Lucke, Barbara, Wintjes, Liesbeth T. M., Morava, Eva, van Engelen, Baziel G. M., Smits, Bart W., Hol, Frans A., Siers, Marloes H., Ter Laak, Henk, van der Knaap, Marjo S., Van Spronsen, Francjan J., Rodenburg, Richard J. T., van den Heuvel, Lambert P.
Published in Annals of neurology (01.04.2008)
Published in Annals of neurology (01.04.2008)
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Journal Article
Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3
Solomon, Nicola M, Ross, Shelley A, Forrest, Susan M, Thomas, Paul Q, Morgan, Thomas, Belsky, Joseph L, Hol, Frans A, Karnes, Pamela S, Hopwood, Nancy J, Myers, Susan E, Tan, Anjanette S, Warne, Garry L
Published in Journal of medical genetics (01.04.2007)
Published in Journal of medical genetics (01.04.2007)
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Journal Article
A deletion encompassing Zic3 in Bent tail, a mouse model for X-linked neural tube defects
KLOOTWIJK, R, FRANKE, B, VAN DER ZEE, C. E. E. M, DE BOER, R. T, WILMS, W, HOL, F. A, MARIMAN, E. C. M
Published in Human molecular genetics (01.07.2000)
Published in Human molecular genetics (01.07.2000)
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Journal Article
Nail-patella syndrome : Identification of mutations in the LMX1B gene in Dutch families
KNOERS, Nine V. A. M, BONGERS, Ernie M. H. F, VAN BEERSUM, Sylvia E. C, LOMMEN, E. D. J. P, VAN BOKHOVEN, Hans, HOL, Frans A
Published in Journal of the American Society of Nephrology (01.09.2000)
Published in Journal of the American Society of Nephrology (01.09.2000)
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Journal Article
Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes
Hol, Frans A., Schepens, Marga T., van Beersum, Sylvia E.C., Redolfi, Elena, Affer, Maurizio, Vezzoni, Paolo, Hamel, Ben C.J., Karnes, Pamela S., Mariman, Edwin C.M., Zucchi, Ileana
Published in Genomics (San Diego, Calif.) (15.10.2000)
Published in Genomics (San Diego, Calif.) (15.10.2000)
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Journal Article
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, Marieke J H, Smeitink, Jan A M, Pots, Jeanette M, van Kaauwen, Edwin, Trijbels, Frans J M, Hol, Frans A, van den Heuvel, Lambert P
Published in Journal of child neurology (01.06.2006)
Published in Journal of child neurology (01.06.2006)
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Journal Article
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, Dirk J, FRANKE, Barbara, NABER, Anton H. J, WILLEMEN, Judith J. H. T, HEISTER, Angelien J. G. A. M, BRUNNER, Han G, DE KOVEL, Carolien G. F, HOL, Frans A
Published in European journal of human genetics : EJHG (01.11.2003)
Published in European journal of human genetics : EJHG (01.11.2003)
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Journal Article
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome
Silahtaroglu, A, Hol, F A, Jensen, P K, Erdel, M, Duba, H C, Geurds, M P, Knoers, N V, Mariman, E C, Tümer, Z, Utermann, G, Wirth, J, Bugge, M, Tommerup, N
Published in European journal of human genetics : EJHG (01.01.1999)
Published in European journal of human genetics : EJHG (01.01.1999)
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Journal Article
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, E Mariken, Siers, Marloes H, Van den Elzen, Christa, Van Engelen, Baziel G, Smeitink, Jan A M, Rodenburg, Richard J, Hol, Frans A
Published in European journal of human genetics : EJHG (01.02.2007)
Published in European journal of human genetics : EJHG (01.02.2007)
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Journal Article
Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects
Hol, Frans A, van der Put, Nathalie MJ, Geurds, Monique PA, Heil, Sandra G, Trijbels, Frans JM, Hamel, Ben CJ, Mariman, Edwin CM, Blom, Henk J
Published in Clinical genetics (01.02.1998)
Published in Clinical genetics (01.02.1998)
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Journal Article
Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle
Smits, Bart W, Hol, Frans A, van den Heuvel, Lambert P, Drost, Gea, Rodenburg, Richard J T, Ter Laak, Henk J, van Engelen, Baziel G M
Published in Journal of neurology (01.11.2007)
Published in Journal of neurology (01.11.2007)
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Journal Article
Identification of two PAX3 mutations causing waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)
Hol, Frans A., Geurds, Monique P.A., Cremers, Cor W.R.J., Hamel, Ben C.J., Mariman, Edwin C.M.
Published in Human mutation (1998)
Published in Human mutation (1998)
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Journal Article
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome
Hol, F A, Hamel, B C, Geurds, M P, Mullaart, R A, Barr, F G, Macina, R A, Mariman, E C
Published in Journal of medical genetics (01.01.1995)
Published in Journal of medical genetics (01.01.1995)
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