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	Title	Authors / Editors	Date
unige:107723	Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU	Korff, Christian; Bottani, Armand	2017
unige:107419	11q deletion in neuroblastoma: a review of biological and clinical implications	Mlakar, Vid; Mlakar, Simona; Lopez, Gonzalo; Maris, John M; ... Gumy Pause, Fabienne	2017
unige:96873	Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy	Rudolf, Gabrielle; Lesca, Gaetan; Fluss, Joel Victor; Abbas, Mohamed	2016
unige:29136	Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes	Delio, Maria; Schneider, Maude; Dahoun, Sophie; Eliez, Stéphan; Armando, Marco	2013
unige:34656	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
unige:34667	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
unige:29944	Practical guidelines for managing patients with 22q11.2 deletion syndrome	Bassett, Anne S.	2011
unige:25510	Adaptive strategy for the statistical analysis of connectomes	Meskaldji, Djalel Eddine; Ottet, Marie-Christine; Cammoun, Leila; Hagmann, Patric Sacha; ... Morgenthaler, Stephan	2011
unige:25512	Noyau caudé et traitement temporel dans le syndrome vélocardiofacial (22q11)	Gabriel Mounir, Daniela; Debbané, Martin; Schaer, Marie; Glaser, Bronwyn; Eliez, Stéphan	2011
unige:5576	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
unige:8855	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
unige:816	Source monitoring for actions in adolescents with 22q11.2 deletion syndrome (22q11DS)	Debbané, Martin; Van der Linden, Martial; Glaser, Bronwyn; Eliez, Stéphan	2008
unige:9219	Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes	Mefford, H. C.	2008
unige:8884	Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients	Martinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique	2008
unige:4592	Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome	Mehenni, Hamid; Resta, Nicoletta; Guanti, Ginevra; Mota-Vieira, Louisa; ... Picard, Didier	2007
unige:8764	Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome	Gothelf, Doron; Hoeft, Fumiko; Hinard, Christine; Hallmayer, J. F.; ... Reiss, A. L.	2007
unige:5353	Hippocampal volume reduction in 22q11.2 deletion syndrome	Debbané, Martin; Schaer, Marie; Farhoumand, Riaz; Glaser, Bronwyn; Eliez, Stéphan	2006
unige:5478	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
unige:8758	Language skills in children with velocardiofacial syndrome (deletion 22q11.2)	Glaser, Bronwyn; Mumme, D. L.; Blasey, Christine; Morris, Michael Andréw; ... Eliez, Stéphan	2002
unige:8734	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
unige:8599	Molecular genetics of coagulation factor VIII gene and haemophilia A	Antonarakis, Stylianos	1998
unige:8628	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
unige:8735	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
unige:8746	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
unige:8768	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

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