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Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects.
Published in:
Clinical Genetics, 1998, v. 53, n. 2, p. 119, doi. 10.1111/j.1399-0004.1998.tb02658.x
By:
- Hol, Frans A;
- Put, Nathalie MJ;
- Geurds, Monique PA;
- Heil, Sandra G;
- Trijbels, Frans JM;
- Hamel, Ben CJ;
- Mariman, Edwin CM;
- Blom, Henk J
Publication type:
Article
Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNA<sup>Ile</sup>.
Published in:
Journal of Neurology, 2007, v. 254, n. 11, p. 1614, doi. 10.1007/s00415-007-0608-6
By:
- 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.
Publication type:
Article
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1132, doi. 10.1038/sj.ejhg.5201899
By:
- 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.;
- Hochstenbach, P. F. Ron;
- Poot, Martin
Publication type:
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.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 2, p. 155, doi. 10.1038/sj.ejhg.5201735
By:
- Ruiter, E. Mariken;
- Siers, Marloes H.;
- van den Elzen, Christa;
- van Engelen, Baziel G.;
- Smeitink, Jan A. M.;
- Rodenburg, Richard J.;
- Hol, Frans A.
Publication type:
Article
No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 884, doi. 10.1038/sj.ejhg.5201058
By:
- 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.
Publication type:
Article
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 1, p. 68, doi. 10.1038/sj.ejhg.5200260
By:
- Silahtaroglu, Asli;
- Hol, Frans A;
- Jensen, Peter KA;
- Erdel, Martin;
- Duba, Hans-Christoph;
- Geurds, Monique PA;
- Knoers, Nine VAM;
- Mariman, Edwin CM;
- Tümer, Zeynep;
- Utermann, Gerd;
- Wirth, Jutta;
- Bugge, Merete;
- Tommerup, Niels
Publication type:
Article
Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system.
Published in:
Annals of Neurology, 2008, v. 63, n. 4, p. 473, doi. 10.1002/ana.21328
By:
- 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.
Publication type:
Article
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
Published in:
Annals of Neurology, 2007, v. 62, n. 4, p. 422, doi. 10.1002/ana.21199
By:
- 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.
Publication type:
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.
Published in:
Journal of Child Neurology, 2006, v. 21, n. 6, p. 508, doi. 10.1177/08830738060210062501
By:
- 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.
Publication type:
Article
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Published in:
Human Mutation, 2008, v. 29, n. 9, p. 1125, doi. 10.1002/humu.20750
By:
- 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.
Publication type:
Article
Identification of two PAX3 mutations causing waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).
Published in:
Human Mutation, 1998, v. 11, p. S145, doi. 10.1002/humu.1380110149
By:
- Hol, Frans A.;
- Geurds, Monique P.A.;
- Cremers, Cor W.R.J.;
- Hamel, Ben C.J.;
- Mariman, Edwin C.M.
Publication type:
Article
Genetic Mapping of the Human Homologue (T) of Mouse T(Brachyury) and a Search for Allele Association between Human T and Spina Bifida.
Published in:
Human Molecular Genetics, 1996, v. 5, n. 5, p. 669, doi. 10.1093/hmg/5.5.669
By:
- Morrison, Katie;
- Papapetrou, Charalambos;
- Attwood, John;
- Hol, Frans;
- Lynch, Sally A.;
- Sampath, Anu;
- Hamel, Ben;
- Burn, John;
- Sowden, Jane;
- Stott, David;
- Mariman, Edwin;
- Edwards, Yvonne H.
Publication type:
Article

Found: 12