Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, +11

The American Journal of Human Genetics

Severe Mental RetardationMendelian DisorderPsychiatryCorticobasal DegenerationNeuroanatomy +10

Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia

Idoya Lahortiga, Kim De Keersmaecker, Pieter Van Vlierberghe, +15

Nature Genetics

Myb OncogeneHematological MalignancyMixed-phenotype Acute LeukemiaMalignant Blood DisorderHematology +7

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Guy Froyen, Mark Corbett, Joke Vandewalle, +31

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsGenomic MechanismMolecular Biology +7

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of<i>XLMR</i>genes

Guy Froyen, Hilde Van Esch, Marijke Bauters, +6

Human Mutation

High ResolutionGeneticsPathologyDisease Gene IdentificationGenomics +16

Nonrecurrent <i>MECP2</i> duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Marijke Bauters, Hilde Van Esch, Michael J. Friez, +16

Genome Research

Dna DamageGeneticsGenomic MechanismMolecular BiologyPathology +19

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes

Hilde Van Esch, Anna Jansen, Marijke Bauters, +2

American Journal of Medical Genetics Part A

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation

Nathalie Fieremans, Marijke Bauters, Stefanie Belet, +7

Human Genetics

Mecp2 DuplicationsMendelian DisorderGenetic DisorderGeneticsFragile X Spectrum +6

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Sandra Jansen, Alexander Hoischen, Bradley P. Coe, +38

European Journal of Human Genetics

Down SyndromeMetabolic SyndromeObesityIntellectual ImpairmentBody Composition +10

Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes <i>CRKL</i> and <i>MAPK1</i>

Jeroen Breckpot, Bernard Thienpont, Marijke Bauters, +6

American Journal of Medical Genetics Part A

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region

Guy Froyen, Marijke Bauters, Jackie Boyle, +10

Human Genetics

Mendelian DisorderGenetic DisorderGeneticsUnstable Genomic RegionNon-syndromic Mental Retardation +5