Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Anne-Laure Mosca-Boidron"'
Autor:
Laurence Duplomb, Nadège Gigot, Jean-Benoît Courcet, Anne-Laure Mosca-Boidron, Perrine Malzac, Laurence Faivre, Nathalie Marle, Laetitia Lambert, Estelle Lopez, Clémence Ragon, Christel Thauvin-Robinet, Martine Lemesle, Anne Moncla, Alice Masurel-Paulet, Patrick Callier, Christophe Philippe, Julien Thevenon, Frédéric Huet
Publikováno v:
Journal of medical genetics. 49(12)
Background DYRK1A plays different functions during development, with an important role in controlling brain growth through neuronal proliferation and neurogenesis. It is expressed in a gene dosage dependent manner since dyrk1a haploinsufficiency indu
Autor:
Anne-Laure Mosca-Boidron, Hanna D. Hove, Susanne Kjaergaard, Patrick Callier, Francine Mugneret, Maria Kirchhoff, Laurence Faivre, Nathalie Marle, Christel Thauvin-Robinet, Magali Avila, Alice Masurel, Mondher Chouchane
Publikováno v:
American journal of medical genetics. Part A. (7)
We report on three males with de novo overlapping 7.5, 9.8, and 10 Mb duplication of chromosome 20q11.2. Together with another patient previously published in the literature with overlapping 20q11 microduplication, we show that such patients display