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Journal of Medical Genetics|October 18, 2011
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disabilityMarjolein H Willemsen, Astrid Vallès, Laurens A M H Kirkels, et al.
European Journal of Medical Genetics|November 25, 2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardationChristèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.
Human Mutation|May 27, 2015
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental RetardationLaura Addis, Joo Wook Ahn, Richard Dobson, et al.
Journal of Medical Genetics|August 10, 2014
The clinical significance of small copy number variants in neurodevelopmental disordersReza Asadollahi, Beatrice Oneda, Pascal Joset, et al.
European Journal of Human Genetics : EJHG|November 30, 2017
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumferenceAurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.
Haematologica|October 16, 2012
Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenström's macroglobulinemiaFlorence Nguyen-Khac, Jerome Lambert, Elise Chapiro, et al.
American Journal of Medical Genetics. Part A|March 3, 2015
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletionNicolas Chatron, Véronique Haddad, Joris Andrieux, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingSophie Nambot, Alice Masurel, Salima El Chehadeh, et al.
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