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Your search keyword '"Yntema, H.G."' showing total 3 results
Start Over Author "Yntema, H.G." Publisher bmj publishing group
3 results on '"Yntema, H.G."'

1. High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

Author

Veltman, J.A., Yntema, H.G., Lugtenberg, D., Arts, H., Briault, S., Huys, E.H.L.P.G., Osoegawa, K., de Jong, P., Brunner, H.G., van Kessel, A. Geurts, van Bokhoven, H., and Schoenmakers, E.F.P.M.

Subjects
X chromosome abnormalities, X-linked intellectual disabilities, CELL fusion, MEDICAL genetics, HUMAN genetics, GENOMICS
Abstract

Explains that medical genetics researchers have constructed, validated, and applied a full coverage chromosome X BAC array for array based comparative genomic hybridization array. 25 percent of mental retardation in males is due to genetic defect linked to X chromosome; High resolution copy number screening in the search for MRX genes.

Published
2004
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2. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.

Author

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., Sisitermans, E.A., Nillesen, W.N., de Vries, L.B.A., Hamel, B.C.J., and van Bokhoven, H.

Subjects
GENETIC mutation, GENETICS, GENES, X chromosome, INTELLECTUAL disabilities, DISEASES in women
Abstract

Examines the zinc finger 81 (ZNF81) gene mutations associated with x-linked mental retardation. Absence of th full-length ZNF81 transcript in the patient cell line; Identification of the X chromosome breakpoint by Southern hybridization; Representation of a novel MRX gene which is causally involved in a minority of patients with non-specific X-linked mental retardation.

Published
2004
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3. Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.

Author

Bienvenu, T., Poirier, K., Van Esch, H., Hamel, B., Moraine, C., Fryns, J.P., Ropers, H.H., Beldjord, C., Yntema, H.G., and Chelly, J.

Subjects
INTELLECTUAL disabilities, CHROMATOGRAPHIC analysis, GENES, LIQUID chromatography, GENETIC mutation, MEDICAL genetics
Abstract

Reports on the testing of a large sample of mentally retarded subjects or mutations in the coding region of the ATR2 gene for the purpose of evaluating its involvement in nonspecific mental retardation and assessing the frequency of mutations associated with this condition. Mutation analysis using denataturing high pressure liquid chromatography (DHPLC); Identification of a novel C117F amino acid substitution as a nonpathogenic rare genetic variant.

Published
2003
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