| | Title | Authors / Editors | Date |
|
unige:1055 |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy |
Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis |
2008 |
|
unige:8981 |
An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree |
Radhakrishna, U.; Senol, S.; Herken, H.; Gucuyener, K.; ... Antonarakis, Stylianos |
2001 |
|
unige:8625 |
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia |
Bartoloni, Lucia; Blouin, Jean-Louis; Maiti, A. K.; Sainsbury, A.; ... Antonarakis, Stylianos |
2001 |
|
unige:33562 |
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications |
Coppola, Antonietta; Romito, Antonio; Borel, Christelle; Gehrig, Corinne; ... Cobellis, Gilda |
2013 |
|
unige:34664 |
Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences |
Robyr, Daniel; Friedli, Marc; Gehrig, Corinne; Arcangeli, Mélanie; ... Antonarakis, Stylianos |
2011 |
|
unige:9231 |
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 |
|
unige:77402 |
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins |
Sailani, Mohammad Reza; Santoni, Federico; Letourneau, Audrey; Borel, Christelle; ... Antonarakis, Stylianos |
2015 |
|
unige:42268 |
Domains of genome-wide gene expression dysregulation in Down's syndrome |
Letourneau, Audrey; Santoni, Federico; Bonilla Bustillo, Ximena; Sailani, Mohammad Reza; ... Antonarakis, Stylianos |
2014 |
|
unige:34654 |
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma |
Nikolaev, Sergey Igorievich; Rimoldi, Donata; Iseli, Christian; Valsesia, Armand; ... Antonarakis, Stylianos |
2012 |
|
unige:42298 |
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes |
Guipponi, Michel; Santoni, Federico; Setola, Vincent; Gehrig, Corinne; ... Antonarakis, Stylianos |
2014 |
|
unige:88998 |
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders |
Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos |
2016 |
|
unige:77363 |
Galanin pathogenic mutations in temporal lobe epilepsy |
Guipponi, Michel; Chentouf, Amina; Webling, Kristin E B; Freimann, Krista; ... Antonarakis, Stylianos |
2015 |
|
unige:8870 |
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome |
Lyle, Robert; Gehrig, Corinne; Neergaard-Henrichsen, Charlotte; Deutsch, Samuel; Antonarakis, Stylianos |
2004 |
|
unige:8724 |
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes |
Deutsch, Samuel; Lyle, Robert; Dermitzakis, Emmanouil; Attar, Homa; ... Antonarakis, Stylianos |
2005 |
|
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:32212 |
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts |
Borel, Christelle; Deutsch Escalante, Samuel; Letourneau, Audrey; Migliavacca Voeffray, Eugenia Linda; ... Antonarakis, Stylianos |
2011 |
|
unige:9029 |
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness |
Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos |
2001 |
|
unige:8605 |
Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21 |
Antonarakis, Stylianos; Blouin, Jean-Louis; Lasseter, V. K.; Gehrig, Corinne; ... Pulver, A. E. |
1999 |
|
unige:8891 |
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity |
Mehenni, H.; Gehrig, Corinne; Nezu, J.; Oku, A.; ... Antonarakis, Stylianos |
1998 |
|
unige:1041 |
Mapping of small RNAs in the human ENCODE regions |
Borel, Christelle; Gagnebin, Maryline; Gehrig, Corinne; Kriventseva, Evgenia; ... Antonarakis, Stylianos |
2008 |
|
unige:1188 |
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events |
Dahoun, Sophie; Gagos, Sarantis; Gagnebin, Maryline; Gehrig, Corinne; ... Blouin, Jean-Louis |
2008 |
|
unige:8626 |
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia |
Bartoloni, Lucia; Blouin, Jean-Louis; Pan, Yanzhen; Gehrig, Corinne; ... Antonarakis, Stylianos |
2002 |
|
unige:8969 |
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance |
Prandini, Paola; Deutsch, Samuel; Lyle, Robert; Gagnebin, Maryline; ... Antonarakis, Stylianos |
2007 |
|
unige:8878 |
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) |
Maiti, A. K.; Bartoloni, Lucia; Mitchison, H. M.; Meeks, M.; ... Antonarakis, Stylianos |
2000 |
|
unige:8698 |
No evidence for linkage between schizophrenia and markers at chromosome 15q13-14 |
Curtis, L.; Blouin, Jean-Louis; Radhakrishna, U.; Gehrig, Corinne; ... Antonarakis, Stylianos |
1999 |
|
unige:34514 |
Passive and active DNA methylation and the interplay with genetic variation in gene regulation |
Gutierrez Arcelus, Maria; Lappalainen, Tuuli Emilia; Montgomery, Stephen; Buil Demur, Alfonso Alberto; ... Dermitzakis, Emmanouil |
2013 |
|
unige:8907 |
Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres |
Moldrich, R. X.; Dauphinot, Luce; Laffaire, Julien; Vitalis, Tania; ... Potier, M. C. |
2009 |
|
unige:8646 |
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 |
Blouin, Jean-Louis; Dombroski, B. A.; Nath, S. K.; Lasseter, V. K.; ... Pulver, A. E. |
1998 |
|
unige:8872 |
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region |
Lyle, Robert; Radhakrishna, Uppala; Blouin, Jean-Louis; Gagos, Sarantis; ... Antonarakis, Stylianos |
2006 |
|
unige:77359 |
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing |
Gutierrez Arcelus, Maria; Ongen, Halit; Lappalainen, Tuuli Emilia; Montgomery, Stephen; ... Dermitzakis, Emmanouil |
2015 |
Gehrig, Corinne
add all
remove all
