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Cancer Genetics and Cytogenetics|April 15, 2008
Mechanisms of genesis of variant translocation in chronic myeloid leukemia are not correlated with ABL1 or BCR deletion status or response to imatinib therapySteven Richebourg, Virginie Eclache, Christine Perot, et al.
Cardiology in the Young|June 17, 2014
ELN gene triplication responsible for familial supravalvular aortic aneurysmAnne-Sophie Guemann, Joris Andrieux, Florence Petit, et al.
Lancet (London, England)|September 29, 2004
Alpha-synuclein locus duplication as a cause of familial Parkinson's diseaseMarie-Christine Chartier-Harlin, Jennifer Kachergus, Christophe Roumier, et al.
American Journal of Medical Genetics. Part A|November 19, 2009
Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGHJoris Andrieux, Christèle Dubourg, Marlène Rio, et al.
European Journal of Medical Genetics|July 6, 2010
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patientsManuel Schiff, Andrée Delahaye, Joris Andrieux, et al.
Human Mutation|July 23, 2011
New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defectsJulie Demars, Sylvie Rossignol, Irène Netchine, et al.
American Journal of Medical Genetics. Part A|March 27, 2014
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosisAlice Masurel-Paulet, Isabelle Drumare, Muriel Holder, et al.
European Journal of Medical Genetics|June 4, 2013
Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autismPeter Wang, Prescilla Carrion, Ying Qiao, et al.
Human Mutation|October 12, 2013
Congenital heart defects in patients with deletions upstream of SOX9Marta Sanchez-Castro, Christopher T Gordon, Florence Petit, et al.
Plos One|May 3, 2013
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disordersMaria Tropeano, Joo Wook Ahn, Richard J B Dobson, et al.
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