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European Journal of Medical Genetics|January 26, 2018
First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndromeMinh-Tuan Huynh, Lucie Tosca, François Petit, et al.
European Journal of Medical Genetics|July 12, 2015
Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestationsSophie Brisset, Yline Capri, Audrey Briand-Suleau, et al.
European Journal of Medical Genetics|July 12, 2011
Genotype-phenotype correlation in 13q13.3-q21.3 deletionLucie Tosca, Sophie Brisset, François M Petit, et al.
European Journal of Human Genetics : EJHG|April 29, 2010
Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicismLucie Tosca, Sophie Brisset, François M Petit, et al.
Molecular Cytogenetics|March 4, 2014
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23Sophie Brisset, Zuzana Slamova, Petra Dusatkova, et al.
Molecular Genetics & Genomic Medicine|September 28, 2021
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2CLucie Tosca, Loïc Drévillon, Aurélie Mouka, et al.
The Journal of Clinical Endocrinology and Metabolism|February 24, 2018
Genomic Alterations and Complex Subclonal Architecture in Sporadic GH-Secreting Pituitary AdenomasMirella Hage, Say Viengchareun, Erika Brunet, et al.
European Journal of Medical Genetics|September 20, 2015
Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataractsLaure Raymond, Bruno Francou, François Petit, et al.
Human Reproduction (Oxford, England)|March 15, 2012
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system developmentJacques Young, Corinne Metay, Jerome Bouligand, et al.
The Journal of Clinical Endocrinology and Metabolism|October 31, 2018
Hypermethylator Phenotype and Ectopic GIP Receptor in GNAS Mutation-Negative SomatotropinomasMirella Hage, Ronan Chaligné, Say Viengchareun, et al.
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