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European Journal of Medical Genetics|September 30, 2008
Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardationMartine Doco-Fenzy, Emilie Landais, Joris Andrieux, et al.
American Journal of Medical Genetics. Part A|May 20, 2011
5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defectsSylvie Jaillard, Joris Andrieux, Ghislaine Plessis, et al.
European Journal of Medical Genetics|June 4, 2011
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counsellingAli Houeijeh, Joris Andrieux, Pascale Saugier-Veber, et al.
European Journal of Medical Genetics|October 16, 2012
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotypeBénédicte Demeer, Joris Andrieux, Aline Receveur, et al.
European Journal of Medical Genetics|May 8, 2012
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literatureKerstin Becker, Nataliya Di Donato, Muriel Holder-Espinasse, et al.
American Journal of Medical Genetics. Part A|January 10, 2015
Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patientsGuillaume Jedraszak, Bénédicte Demeer, Michèle Mathieu-Dramard, et al.
American Journal of Medical Genetics. Part A|March 11, 2008
The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patientsMartine Doco-Fenzy, Muriel Holder-Espinasse, Eric Bieth, et al.
Blood|March 25, 2004
A report from the LALA-94 and LALA-SA groups on hypodiploidy with 30 to 39 chromosomes and near-triploidy: 2 possible expressions of a sole entity conferring poor prognosis in adult acute lymphoblastic leukemia (ALL)Christiane Charrin, Xavier Thomas, Martine Ffrench, et al.
Human Genetics|June 21, 2013
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disabilityJoke Vandewalle, Marijke Bauters, Hilde Van Esch, et al.
American Journal of Medical Genetics. Part A|November 19, 2016
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformationsNicola Dennert, Hartmut Engels, Kirsten Cremer, et al.
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