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» Authors » Wim J Kleijer

Wim J Kleijer

Explore the profile of Wim J Kleijer including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 19
Citations 1557
Followers 0
Related Specialties
Genetics
Endocrinology
Molecular Biology
Top 10 Co-Authors
Nicolaas G J Jaspers
Anja Raams
Marianne L T van der Sterre
Victor H Garritsen
Alain Sarasin
Alan R Lehmann
Marije van Leeuwen
Heather Fawcett
Michael Linnebank
Andria Rasile Robinson
Published In
Hum Mutat
Prenat Diagn
J Clin Endocrinol Metab
Proc Natl Acad Sci U S A
Am J Hum Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship
Pehlivan D, Cefle K, Raams A, Ozturk S, Baykal C, Kleijer W, et al.
J Dermatol . 2012 Oct; 39(12):1016-21. PMID: 23039039
Trichothiodystrophy (TTD) is a rare, recessive condition involving multiple organs and systems. Four genes associated with nuclear excision repair have been described in the molecular etiology of TTD. There is...
2.
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study
Verhagen M, Last J, Hogervorst F, Smeets D, Roeleveld N, Verheijen F, et al.
Hum Mutat . 2012 Jan; 33(3):561-71. PMID: 22213089
Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotype-phenotype correlations, we evaluated the...
3.
A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation
Wong H, Hoogerbrugge J, Pang K, van Leeuwen M, van Royen M, Molier M, et al.
Mol Cell Endocrinol . 2008 Jul; 292(1-2):69-78. PMID: 18656523
A novel mutation F826L located within the ligand binding domain (LBD) of the human androgen receptor (AR) was investigated. This mutation was found in a boy with severe penoscrotal hypospadias...
4.
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
Kleijer W, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, et al.
DNA Repair (Amst) . 2008 Mar; 7(5):744-50. PMID: 18329345
Laboratory diagnosis for DNA repair diseases has been performed in western Europe from the early seventies for xeroderma pigmentosum (XP) and from the mid-eighties for Cockayne syndrome (CS) and trichothiodystrophy...
5.
Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk
Kleijer W, van der Sterre M, Garritsen V, Raams A, Jaspers N
Prenat Diagn . 2007 Sep; 27(12):1133-7. PMID: 17880036
Objective: Evaluation of results in a consecutive series of 76 prenatal diagnoses for xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) made since 1977. Methods: UV-induced DNA repair synthesis was assessed by...
6.
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
Jaspers N, Raams A, Cirillo Silengo M, Wijgers N, Niedernhofer L, Robinson A, et al.
Am J Hum Genet . 2007 Feb; 80(3):457-66. PMID: 17273966
Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone...
7.
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
Niedernhofer L, Garinis G, Raams A, Lalai A, Robinson A, Appeldoorn E, et al.
Nature . 2006 Dec; 444(7122):1038-43. PMID: 17183314
XPF-ERCC1 endonuclease is required for repair of helix-distorting DNA lesions and cytotoxic DNA interstrand crosslinks. Mild mutations in XPF cause the cancer-prone syndrome xeroderma pigmentosum. A patient presented with a...
8.
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships
Botta E, Offman J, Nardo T, Ricotti R, Zambruno G, Sansone D, et al.
Hum Mutat . 2006 Sep; 28(1):92-6. PMID: 16977596
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder whose defining feature is brittle hair. Associated clinical symptoms include physical and mental retardation of different severity, ichthyosis, premature aging, and, in...
9.
Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience
Kleijer W, van der Sterre M, Garritsen V, Raams A, Jaspers N
Prenat Diagn . 2006 Aug; 26(10):980-4. PMID: 16941719
Objective: Evaluation of results in a consecutive series of 29 prenatal diagnoses for the Cockayne syndrome. Methods: Recovery of DNA-synthesis in UV-irradiated cultured fetal cells was measured by scintillation counting...
10.
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy
Linnebank M, Semmler A, Kleijer W, van der Sterre M, Gartner J, Fliessbach K, et al.
Hum Mutat . 2006 Aug; 27(10):1063-4. PMID: 16941496
The clinical course of X-linked adrenoleukodystrophy (X-ALD) is of unexplained heterogeneity. Major X-ALD phenotypes are the progressive childhood cerebral form (CCALD) with early confluent cerebral demyelination and the adult-onset adrenomyeloneuropathy...