Zobrazeno 1 - 2
of 2
pro vyhledávání: '"de Vries, B. B.A."'
Autor:
Kleefstra, T., Yntema, H. G., Oudakker, A. R., Romein, T., Sistermans, E., Nillessen, W., van Bokhoven, H., de Vries, B. B.A., Hamel, B. C.J.
Publikováno v:
Clinical Genetics, 61, 5, pp. 359-62
Clinical Genetics, 61, 359-62
Kleefstra, T, Yntema, H G, Oudakker, A R, Romein, T, Sistermans, E, Nillessen, W, van Bokhoven, H, de Vries, B B A & Hamel, B C J 2002, ' Denovo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia ', Clinical Genetics, vol. 61, no. 5, pp. 359-362 . https://doi.org/10.1034/j.1399-0004.2002.610507.x
Clinical Genetics, 61(5), 359-362. Wiley-Blackwell
Clinical Genetics, 61, 359-62
Kleefstra, T, Yntema, H G, Oudakker, A R, Romein, T, Sistermans, E, Nillessen, W, van Bokhoven, H, de Vries, B B A & Hamel, B C J 2002, ' Denovo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia ', Clinical Genetics, vol. 61, no. 5, pp. 359-362 . https://doi.org/10.1034/j.1399-0004.2002.610507.x
Clinical Genetics, 61(5), 359-362. Wiley-Blackwell
Contains fulltext : 166912.pdf (Publisher’s version ) (Closed access) Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene, with apparent lethality in male embryos. However, recent studies indicate th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b7529cc443ff8f8398f60f2b963a9878
https://doi.org/10.1034/j.1399-0004.2002.610507.x
https://doi.org/10.1034/j.1399-0004.2002.610507.x
Autor:
Kleefstra, T., Franken, C. E., Arens, Y. H.J.M., Ramakers, G. J.A., Yntema, H. G., Sistermans, E. A., Hulsmans, C. F.C.H., Nillesen, W. N., van Bokhoven, H., de Vries, B. B.A., Hamel, B. C.J.
Publikováno v:
Clinical Genetics, 66(4), 318-326. Wiley-Blackwell
Kleefstra, T, Franken, C E, Arens, Y H J M, Ramakers, G J A, Yntema, H G, Sistermans, E A, Hulsmans, C F C H, Nillesen, W N, van Bokhoven, H, de Vries, B B A & Hamel, B C J 2004, ' Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1) ', Clinical Genetics, vol. 66, no. 4, pp. 318-326 . https://doi.org/10.1111/j.1399-0004.2004.00308.x
Kleefstra, T, Franken, C E, Arens, Y H J M, Ramakers, G J A, Yntema, H G, Sistermans, E A, Hulsmans, C F C H, Nillesen, W N, van Bokhoven, H, de Vries, B B A & Hamel, B C J 2004, ' Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1) ', Clinical Genetics, vol. 66, no. 4, pp. 318-326 . https://doi.org/10.1111/j.1399-0004.2004.00308.x
Recently, the polyglutamine-binding protein 1 (PQBP1) gene was found to be mutated in five of 29 families studied with X-linked mental retardation (XLMR) linked to Xp. The reported mutations include duplications or deletions of AG dinucleotides in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6927d6b4781e215642d08977e1921351
https://research.vumc.nl/en/publications/bb0b6e1a-db4d-4a5a-880b-8246dfad52d3
https://research.vumc.nl/en/publications/bb0b6e1a-db4d-4a5a-880b-8246dfad52d3
