Differential methylation of the OCT3/4 upstream region in primary human testicular germ cell tumors

Autor: Jong, Jeroen, Weeda, G (Geert), Gillis, Ad, Oosterhuis, Wolter, Looijenga, LHJ (Leendert)

Publikováno v: Oncology Reports, 18(1), 127-132. Spandidos Publications

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::b244d93cb82325b48039d317054c2dd0
https://pure.eur.nl/en/publications/d90642cd-b940-43e8-86a7-09fdb3937f95

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy

Autor: Weeda G, Eric Eveno, Donker I, Vermeulen W, Chevallier-Lagente O, Taïeb A, Stary A, Jh, Hoeijmakers, Mezzina M, Sarasin A

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 1997, 60 (2), pp.320-9
American Journal of Human Genetics, 60, 320-329. Cell Press
Europe PubMed Central

International audience; Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient brittle hair and nails, mental retardation, impaired sexual development, and ichthyosis. Photosensitivity has been reported in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::330f60070fc118d046c768d6a1a80386
https://hal.archives-ouvertes.fr/hal-02115478

A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy

Autor: Stefanini, M., Vermeulen, W., Weeda, G., Giliani, S., Nardo, T., Mezzina, M., Sarasin, A., Harper, J. I., Arlett, C. F., Hoeijmakers, J. H. J., Lehmann, A. R.

The sun-sensitive, cancer-prone genetic disorder xeroderma pigmentosum (XP) is associated in most cases with a defect in the ability to carry out excision repair of UV damage. Seven genetically distinct complementation groups (i.e., A-G) have been id

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8be57c258a46304d1497127e20f0b1fb
https://hdl.handle.net/11379/565972

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