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Your search keyword '"Menzel, Corinna"' showing total 3 results
Start Over Author "Menzel, Corinna" Journal american journal of human genetics
3 results on '"Menzel, Corinna"'

1. Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

Author

Moller, Rikke S., Kubart, Sabine, Hoeltzenbein, Maria, Heye, Babett, Vogel, Ida, Hansen, Christian P., Menzel, Corinna, Ullmann, Reinhard, Tommerup, Niels, Ropers, Hans-Hilger, Tumer, Zeynep, and Kalscheuer, Vera M.

Subjects
Down syndrome -- Genetic aspects, Febrile convulsions -- Genetic aspects, Gene mutations -- Analysis, Microcephaly -- Genetic aspects, Biological sciences
Abstract

The truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with parental onset of microcephaly, feeding problems and febrile epilepsy is examined. The analysis proves that the truncating motions of DYRK1A lead to clinical phenotype including microcephaly.

Published
2008

2. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

Author

Shoichet, Sarah A., Hoffmann, Kirsten, Menzel, Corinna, Trautmann, Udo, Moser, Bettina, Hoeltzenbein, Maria, Echenne, Bernard, Partington, Michael, van Bokhoven, Hans, Moraine, Claude, Fryns, Jean-Peirre, Chelly, Jamel, Rott, Hans-Dieter, Ropers, Hans-Hilger, and Kalscheuer, Vera M.

Subjects
Human genetics -- Research, Mental retardation -- Research, Biological sciences
Published
2003

3. Disruption of the serine/threonine kinase 9 gene causes severe x-linked infantile spasms and mental retardation

Author

Kalscheuer, Vera M., Tao, Jiong, Donnelly, Andrew, Hollway, Georgina, Schwinger, Eberhard, Kubart, Sabine, Menzel, Corinna, Hoeltzenbein, Maria, Tommerup, Niels, Eyre, Helen, Harbord, Michael, Haan, Eric, Sutherland, Grant R., Ropers, Hans-Hilger, and Gecz, Jozef

Subjects
Spasms, Infantile -- Genetic aspects, Genetic disorders -- Research, Mental retardation -- Genetic aspects, Biological sciences
Published
2003

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