Author: "Yntema, H.G." / Publication Type: Magazines - Searchworks@Jio Institute Digital Library Search Results

Author: Kleefstra, T., van Zelst-Stams, W.A., Nillesen, W.M., Cormier-Daire, V., Hogue, G., Foulds, N., van Dooren, M., Willemsen, M.H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., Rauch, A., Zenker, M., Adam, M.P., Innes, M., Davies, C., Gonzalez-Meneses Lopez, A., Casalone, R., Weber, A., Brueton, L.A., Delicado Navarro, A., Palomares Bralo, M., Venselaar, H., Stegmann, S.P.A., Yntema, H.G., van Bokhoven, H., and Brunner, H.G.
Subjects: Telomeres -- Research, Chromosome deletion -- Research, Haplotypes -- Research, Gene amplification -- Usage, Health
Published: 2009

Author: Lugtenberg, D., Brouwer, A.P.M. de, Kleefstra, T., Oudakker, A.R., Frints, S.G.M., Schrander-Stumpel, C.T.R.M., Fryns, J.P., Jensen, L.R., Chelly, J., Moraine, C., Turner, G., Veltman, J.A., Hamel, B.C.J., de Vries, B.B.A., van Bokhoven, H., and Yntema, H.G.
Subjects: Mental retardation -- Genetic aspects, Mental retardation -- Diagnosis, Human chromosome abnormalities -- Diagnosis, Cell hybridization -- Usage, Genetic polymorphisms -- Research, Health
Published: 2006

Author: Veltman, J.A., Yntema, H.G., Lugtenberg, D., Arts, H., Briault, S., de Jong, P., Brunner, H.G., van Kessel, A, and Bokhoven, H.
Subjects: Chromosome abnormalities -- Research, Chromosome abnormalities -- Health aspects, Mental retardation -- Genetic aspects, Mental retardation -- Research, Mental retardation -- Causes of, Health
Published: 2004

Author: Kleefstra, T., Oudakker, A.R., Yntema, H.G., Banning, M.J.G., Chelly, J., Kalscheuer, V.M., Moraine, C., Janssen, I.M., Fryns, J-P., Roper, H-H., Sistermans, E.A., Vries L B A de., Nillesen, W.N., Hamel, B.C.J., and Bokhoven, H van.
Subjects: X chromosome -- Research, Mental retardation -- Research, Gene mutations -- Research, Health
Abstract: A study was conducted on the break points of a de novo translocation t(X;9)(p11.23;q34.3) in a mentally retarded female, which disrupted the gene ZNF81 on the X chromosome. The studies suggested that ZNF81 was causative for non-specific X-lined mental retardation.
Published: 2004

Author: Bienvenu, T., Poirier, K., Esch, H. Van, Hamel, B., Moraine, C., Fryns, J.P., Ropers, H.H., Beldjord, C., Yntema, H.G., and Chelly, J.
Subjects: Mental retardation -- Genetic aspects, Genetic polymorphisms -- Physiological aspects -- Genetic aspects, Angiotensin -- Receptors, Health, Physiological aspects, Genetic aspects
Abstract: Mental retardation (MR) is a frequent cause of serious handicap in children and young adults. It is defined as an overall intelligence quotient (IQ) lower than 70 associated with functional [...]
Published: 2003

Author: Yntema, H.G., Hamel, B.C.J., Smits, A.P.T., Kremer, H., Ropers, H-H., Smeets, D.F.C.M., Bokhoven, H. van, Roosmalen, T. van, and Helm, B. van den
Abstract: We report linkage data on a new large family with non-specific X linked mental retardation (MRX), using 24 polymorphic markers covering the entire X chromosome. We could assign the underlying disease gene, denoted MRX46, to the Xq25-q26 region. MRX46 is tightly linked to the markers DXS8072, HPRT, and DXS294 with a maximum lod score of 5.12 at θ=0. Recombination events were observed with DXS425 in Xq25 and DXS984 at the Xq26-Xq27 boundary, which localises MRX46 to a 20.9 cM (12 Mb) interval. Several X linked mental retardation syndromes have been mapped to the same region of the X chromosome. In addition, the localisation of two MRX genes, MRX27 and MRX35, partially overlaps with the linkage interval obtained for MRX46. Although an extension of the linkage analysis for MRX35 showed only a minimal overlap with MRX46, it cannot be excluded that the same gene is involved in several of these MRX disorders. On the other hand, given the considerable genetic heterogeneity in MRX, one should be extremely cautious in using interfamilial linkage data to narrow down the localisation of MRX genes. Therefore, unless the underlying gene(s) is characterised by the analysis of candidate genes, MRX46 can be considered a new independent MRX locus.
Published: 1998

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