Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

Autor: Tjitske Kleefstra, H Van Bokhoven, B.C.J. Hamel, Helger G. Yntema, G J A Ramakers, C E Franken, Erik A. Sistermans, Y H J M Arens, C F C H Hulsmans, W. N. Nillesen, B. B. A. de Vries

Publikováno v: Clinical Genetics. 66:318-326

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=doi_________::a82d4a7ead322bc6e4c3b5f7f41d624d
https://doi.org/10.1111/j.1399-0004.2004.00308.x

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

Autor: Claude Moraine, Jamel Chelly, Astrid R. Oudakker, Tjitske Kleefstra, H Van Bokhoven, M. J. G. Banning, Erik A. Sistermans, Vera M. Kalscheuer, Helger G. Yntema, B.C.J. Hamel, Irene M. Janssen, W. N. Nillesen, L.B.A. de Vries, J. P. Fryns, Hans-Hilger Ropers

Publikováno v: Journal of Medical Genetics, 41, 394-9
Journal of Medical Genetics, 41(5), 394-399. BMJ Publishing Group
Scopus-Elsevier
Journal of Medical Genetics, 41, 5, pp. 394-9
Kleefstra, T, Yntema, H G, Oudakker, A R, Banning, M J G, Kalscheuer, V M, Chelly, J, Moraine, C, Ropers, H H, Fryns, J P, Janssen, I M, Sistermans, E A, Nillesen, W N, De Vries, L B A, Hamel, B C J & Van Bokhoven, H 2004, ' Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation ', Journal of Medical Genetics, vol. 41, no. 5, pp. 394-399 . https://doi.org/10.1136/jmg.2003.016972

X-linked mental retardation (XLMR) has a prevalence of 2.6 cases per 1000 population, accounting for over 10% of all cases of mental retardation. Clinically, XLMR exists in syndromic (MRXS) and non-syndromic (MRX) forms, that is without other disting

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b1d889d23aebe386abad9f43d428cbc
http://hdl.handle.net/2066/59060

Familial Angelman syndrome with a crossover in the critical deletion region

Autor: C.J.A.M. van der Burgt, Marcel R. Nelen, A. Vis, Hubert J.M. Smeets, W. N. Nillesen

Publikováno v: American journal of medical genetics. 52(3)

More than two thirds of the patients with Angelman syndrome (AS) carry a deletion or other chromosomal abnormality in the 15q11-13 region. A much less frequent cause (4%) is paternal uniparental disomy of the entire chromosome. In general no abnormal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d8e932e5498ce2d2dac9c6d34ce11f5
https://pubmed.ncbi.nlm.nih.gov/7810569