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Journal of Medical Genetics|September 25, 2008
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?S Jaillard, C Dubourg, M Gérard-Blanluet, et al.Human Reproduction (Oxford, England)|June 13, 2020
Granulosa cells provide elimination of apoptotic oocytes through unconventional autophagy-assisted phagocytosisM G Yefimova, C Lefevre, A Bashamboo, et al.European Journal of Medical Genetics|March 22, 2023
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samplesL Mary, M Fradin, L Pasquier, et al.Molecular Syndromology|October 30, 2013
Array-CGH Analysis Suggests Genetic Heterogeneity in RhombencephalosynapsisF Démurger, L Pasquier, C Dubourg, et al.Journal of Medical Genetics|July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformationsN Le Meur, M Holder-Espinasse, S Jaillard, et al.Human Reproduction (Oxford, England)|April 12, 2022
Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomesF Ghieh, A L Barbotin, N Swierkowski-Blanchard, et al.Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|October 14, 2017
Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter studyM Egloff, B Hervé, T Quibel, et al.Prenatal Diagnosis|June 26, 2014
Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 casesN Gruchy, F Vialard, E Blondeel, et al.Clinical Genetics|March 19, 2010
Delineation of 15q13.3 microdeletionsA Masurel-Paulet, J Andrieux, P Callier, et al.Pageof 4