F. Hol

发表

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

E. Mariman, R. Balling, Y. Shugart, 1996, Journal of medical genetics.

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene

M. Verbeek, J. Seeger, R. Wevers, 2007, Annals of neurology.

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

J. Smeitink, H. T. ter Laak, F. Trijbels, 2003, Journal of Inherited Metabolic Disease.

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

W. W. Jong, F. Hol, H. Bloemendal, 1991, Journal of Molecular Evolution.

Mitochondrial disease criteria

R. Rodenburg, L. V. D. Heuvel, J. Smeitink, 2006, Neurology.

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

E. Mariman, B. Hamel, E. J. V. van Zoelen, 1998, Proceedings of the National Academy of Sciences of the United States of America.

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

J. Smeitink, L. P. Van den Heuvel, F. Trijbels, 2006, Journal of child neurology.

Mitochondrial dysfunction in Brooks–Wisniewski–Brown syndrome

S. Seneca, L. de Meirleir, R. Rodenburg, 2006, American journal of medical genetics. Part A.

Altered regulation of platelet-derived growth factor receptor-a gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins (neural tube defectsyembryonal carcinomayosteosarcoma)

E. Mariman, H. Peters, C. Hamel, 1998 .

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

R. Rodenburg, B. Engelen, J. Smeitink, 2007, European Journal of Human Genetics.

Mitochondrial dysfunction in Stüve–Wiedemann syndrome in a patient carrying an ND1 gene mutation

R. Rodenburg, B. Hamel, J. Smeitink, 2006, American journal of medical genetics. Part A.

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

J. Wetzels, L. P. Van den Heuvel, F. Hol, 2005, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Genotype–phenotype correlations in MYCN‐related Feingold syndrome

H. Brunner, H. van Bokhoven, H. Scheffer, 2008, Human mutation.

J Am Soc Nephrol 11: 1762–1766, 2000 Nail-Patella Syndrome: Identification of Mutations in the LMX1B Gene

E. Bongers, H. van Bokhoven, N. Knoers, 2022 .

Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation.

R. Rodenburg, J. Smeitink, E. Morava, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease

B. Franke, H. Brunner, A. Naber, 2003, European Journal of Human Genetics.

Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans

B. Franke, E. Mariman, B. Hamel, 2004, American journal of medical genetics. Part A.

Identification of CXorf1, a novel intronless gene in Xq27.3, expressed in human hippocampus.

C. Montagna, M. Cimino, S. Mumm, 1998, DNA and cell biology.

A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects.

B. Franke, E. Mariman, F. Hol, 2000, Human molecular genetics.

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

E. Mariman, M. Patton, A. Brady, 1994, Nature Genetics.

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

P. Thomas, S. Forrest, T. Morgan, 2004, Journal of Medical Genetics.

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

P. Thomas, S. Forrest, T. Morgan, 2004, Journal of Medical Genetics.

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

S. Forrest, T. Morgan, F. Hol, 2004, Journal of Medical Genetics.

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

E. Mariman, B. Hamel, M. Schepens, 2000, Genomics.

Methionine synthase and neural tube defects.

E. Mariman, J. Burn, S. Lynch, 1997, Journal of medical genetics.

Susceptibility to spina bifida; an association study of five candidate genes

J. Burn, F. Hol, K. Morrison, 1998, Annals of human genetics.

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

M. Poot, F. Beemer, F. Hol, 2007, European Journal of Human Genetics.

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

E. Mariman, A. Silahtaroglu, Z. Tümer, 1999, European Journal of Human Genetics.

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

E. Mariman, B. Hamel, Ó. Jensson, 1994, Human Genetics.

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

B. Franke, E. Mariman, B. Hamel, 2003, Journal of medical genetics.

Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate‐dehydrogenase, methenyltetrahydrofolate‐cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects

E. Mariman, H. Blom, B. Hamel, 1998, Clinical genetics.

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

E. Mariman, B. Hamel, F. Hol, 1992, Human molecular genetics.

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1

C. Cremers, J. Cruysberg, R. Pennings, 2010, Molecular vision.

Absence of linkage between familial neural tube defects and PAX3 gene.

E. Mariman, Y. Shugart, W. Johnson, 1995, Journal of medical genetics.

Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida.

E. Mariman, J. Attwood, J. Burn, 1996, Human molecular genetics.

Muscle 3243A→G mutation load and capacity of the mitochondrial energy‐generating system

R. Rodenburg, M. Schuelke, B. Lucke, 2008, Annals of neurology.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

U. Dillmann, R. Rodenburg, J. Smeitink, 2007, Journal of Medical Genetics.

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2006, American Journal of Medical Genetics. Part A.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

U. Dillmann, R. Rodenburg, J. Smeitink, 2007, Journal of Medical Genetics.

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

B. Engelen, R. Rodenburg, H. Laak, 2007, Journal of Neurology.

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

E. Mariman, B. Hamel, F. Barr, 1995, Journal of medical genetics.

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

C. Cremers, B. Hamel, F. Hol, 1998, Human mutation.

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

A. Irvine, R. Watson, F. Hol, 2010, The British journal of dermatology.

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

J. Wetzels, L. V. D. Heuvel, F. Hol, 2005 .

Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family

B. Franke, L. Sandkuijl, C. D. de Kovel, 2004, Journal of Medical Genetics.

Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib‐pair collection

B. Franke, H. Brunner, B. Maassen, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

U. Dillmann, R. Rodenburg, J. Smeitink, 2009, BMJ Case Reports.