Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

Autor: Balemans, Monique C.M., Ansar, Muhammad, Oudakker, Astrid R., van Caam, Arjan P.M., Bakker, Brenda, Vitters, Elly L., van der Kraan, Peter M., de Bruijn, Diederik R.H., Janssen, Sanne M., Kuipers, Arthur J., Huibers, Manon M.H., Maliepaard, Eliza M., Walboomers, X. Frank, Benevento, Marco, Nadif Kasri, Nael, Kleefstra, Tjitske, Zhou, Huiqing, Van der Zee, Catharina E.E.M., van Bokhoven, Hans

Publikováno v: In Developmental Biology 15 February 2014 386(2):395-407

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia

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

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

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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Autor: Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C.J., Sistermans, Erik A., de Vries, Bert B.A., van Bokhoven, Hans

Publikováno v: In The American Journal of Human Genetics 2006 79(2):370-377

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