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A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents Marini, Monica; Bocciardi, Renata; Gimelli, Stefania; Di Duca, Marco; ... Ravazzolo, Roberto 2010
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Down syndrome: from understanding the neurobiology to therapy Gardiner, Katheleen; Herault, Yann; Lott, Ira T.; Antonarakis, Stylianos; ... Dierssen, Mara 2010
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Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation Gimelli, Stefania; Divizia, Maria Teresa; Lerone, Margherita; Bricco, Lara; ... Gimelli, Giorgio 2010
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A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes De Cegli, Rossella; Romito, Antonio; Iacobacci, Simona; Mao, Lei; ... Cobellis, G. 2010
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A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus Friedli, Marc; Barde, Isabelle; Arcangeli, Mélanie; Verp, Sonia; ... Antonarakis, Stylianos 2010
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New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism Kapranov, Philipp; Ozsolak, Fatih; Kim, Sang Woo; Foissac, Sylvain; ... Milos, Patrice M. 2010
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A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes Hovatta, Outi; Jaconi, Marisa; Tohonen, Virpi; Bena, Frédérique; ... Feki, Anis 2010
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Eye Gaze During Face Processing in Children and Adolescents With 22q11.2 Deletion Syndrome Glaser, Bronwyn; Debbané, Martin; Ottet, Marie-Christine; Vuilleumier, Patrik; ... Eliez, Stéphan 2010
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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features Makrythanasis, Periklis; Moix, Isabelle; Gimelli, Stefania; Fluss, Joel Victor; ... Bottani, Armand 2010
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Mendelian disorders and multifactorial traits: the big divide or one for all? Antonarakis, Stylianos; Chakravarti, Aravinda; Cohen, J. C.; Hardy, John 2010
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A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats Bena, Frédérique; Gimelli, Stefania; Migliavacca, Eugenia; Brun-Druc, Nathalie; ... Sharp, A. J. 2010
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Regulation of fibrinogen production by microRNAs Fort, Alexandre; Borel, Christelle; Migliavacca, Eugenia; Antonarakis, Stylianos; ... Neerman Arbez, Marguerite 2010
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Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening D'Haene, B.; Attanasio, Catia; Beysen, Diane; Dostie, Josee; ... De Baere, Elfride 2009
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Identifying protein-coding genes in genomic sequences Harrow, Jennifer; Nagy, Alinda; Reymond, Alexandre; Alioto, Tyler; ... Guigo, Roderic 2009
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Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing Nikolaev, S. I.; Iseli, Christian; Sharp, A. J.; Robyr, Daniel; ... Antonarakis, Stylianos 2009
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Common regulatory variation impacts gene expression in a cell type-dependent manner Dimas, Antigone S.; Deutsch, Samuel; Stranger, Barbara E.; Montgomery, Stephen; ... Antonarakis, Stylianos 2009
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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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Genetic structure of Europeans: a view from the North-East Nelis, Mari; Esko, Tonu; Antonarakis, Stylianos; Borel, Christelle; Gagnebin, Maryline 2009
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Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation Bedard, Karen; Attar Cohen, Homa; Bonnefont, Jérôme; Jaquet, Vincent; ... Krause, Karl-Heinz 2009
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Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype Hubert, F. X.; Kinkel, S. A.; Crewther, P. E.; Cannon, P. Z.; ... Scott, Hamish Steele 2009
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