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 TitleAuthors / EditorsDate
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU Korff, Christian; Bottani, Armand 2017
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11q deletion in neuroblastoma: a review of biological and clinical implications Mlakar, Vid; Mlakar, Simona; Lopez, Gonzalo; Maris, John M; ... Gumy Pause, Fabienne 2017
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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy Rudolf, Gabrielle; Lesca, Gaetan; Fluss, Joel Victor; Abbas, Mohamed 2016
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Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes Delio, Maria; Schneider, Maude; Dahoun, Sophie; Eliez, Stéphan; Armando, Marco 2013
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Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand 2012
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A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia Gimelli, Stefania; Makrythanasis, Periklis; Stouder, Christelle; Antonarakis, Stylianos; ... Sloan Bena, Frédérique 2011
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Practical guidelines for managing patients with 22q11.2 deletion syndrome Bassett, Anne S. 2011
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Adaptive strategy for the statistical analysis of connectomes Meskaldji, Djalel Eddine; Ottet, Marie-Christine; Cammoun, Leila; Hagmann, Patric Sacha; ... Morgenthaler, Stephan 2011
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Noyau caudé et traitement temporel dans le syndrome vélocardiofacial (22q11) Gabriel Mounir, Daniela; Debbané, Martin; Schaer, Marie; Glaser, Bronwyn; Eliez, Stéphan 2011
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Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Lyle, Robert; Bena, Frédérique; Gagos, Sarantis; Gehrig, Corinne; ... Antonarakis, Stylianos 2009
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Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms Lespinasse, James; Gimelli, Stefania; Bena, Frédérique; Antonarakis, Stylianos; ... Giacobino, Ariane 2009
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Source monitoring for actions in adolescents with 22q11.2 deletion syndrome (22q11DS) Debbané, Martin; Van der Linden, Martial; Glaser, Bronwyn; Eliez, Stéphan 2008
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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes Mefford, H. C. 2008
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Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients Martinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique 2008
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Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome Mehenni, Hamid; Resta, Nicoletta; Guanti, Ginevra; Mota-Vieira, Louisa; ... Picard, Didier 2007
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Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome Gothelf, Doron; Hoeft, Fumiko; Hinard, Christine; Hallmayer, J. F.; ... Reiss, A. L. 2007
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Hippocampal volume reduction in 22q11.2 deletion syndrome Debbané, Martin; Schaer, Marie; Farhoumand, Riaz; Glaser, Bronwyn; Eliez, Stéphan 2006
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Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications Debbané, Martin; Glaser, Bronwyn; David, Melissa K.; Feinstein, Carl; Eliez, Stéphan 2006
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Language skills in children with velocardiofacial syndrome (deletion 22q11.2) Glaser, Bronwyn; Mumme, D. L.; Blasey, Christine; Morris, Michael Andréw; ... Eliez, Stéphan 2002
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Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study Eliez, Stéphan; Antonarakis, Stylianos; Morris, Michael Andréw; Dahoun, S. P.; Reiss, A. L. 2001
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Molecular genetics of coagulation factor VIII gene and haemophilia A Antonarakis, Stylianos 1998
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A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region Bartsch, O.; Hinkel, G. K.; Petersen, M. B.; Konig, U.; ... Antonarakis, Stylianos 1997
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Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13 Eliez, Stéphan; Morris, Michael Andréw; Dahoun-Hadorn, S.; DeLozier-Blanchet, C. D.; ... Antonarakis, Stylianos 1997
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Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients Fokstuen, Siv; Bottani, Armand; Medeiros, P. F.; Antonarakis, Stylianos; ... Schinzel, A. 1997
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Deletion of a highly conserved tetrapeptide sequence of the proinsulin connecting peptide (C-peptide) inhibits proinsulin to insulin conversion by transfected pituitary corticotroph (AtT20) cells Gross, D. J.; Villa-Komaroff, L.; Kahn, C. R.; Weir, G. C.; Halban, Philippe A. 1989