| Title | Authors / Editors | Date |
unige:32728 |
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family |
Levrat, Emmanuel; Aboukhamis, Imad; De Moerloose, Philippe; Farho, Jaafar; ... Neerman Arbez, Marguerite |
2011 |
unige:8681 |
A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y |
Chen, H.; Rossier, Colette; Morris, Michael Andréw; Scott, Hamish Steele; ... Antonarakis, Stylianos |
1999 |
unige:9063 |
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly |
Vargas, F. R.; Roessler, E.; Gaudenz, K.; Belloni, E.; ... Muenke, M. |
1998 |
unige:42242 |
Assessment of transcript reconstruction methods for RNA-seq |
Steijger, Tamara; Abril, Josep F; Engström, Pär G; Kokocinski, Felix; ... Antonarakis, Stylianos |
2013 |
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:8771 |
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning |
Guipponi, Michel; Brunschwig, K.; Chamoun, Z.; Scott, Hamish Steele; ... Antonarakis, Stylianos |
2000 |
unige:8682 |
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3 |
Chen, H.; Rossier, Colette; Nakamura, Y.; Lynn, A.; ... Antonarakis, Stylianos |
1997 |
unige:8952 |
Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome |
Giacobino, Ariane; Chen, H.; Antonarakis, Stylianos |
1997 |
unige:8674 |
Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3 |
Chen, H.; Bouras, Constantin; Antonarakis, Stylianos |
1996 |
unige:8680 |
Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3 |
Chen, H.; Rossier, Colette; Lalioti, M. D.; Lynn, A.; ... Antonarakis, Stylianos |
1996 |
unige:8678 |
Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2 |
Chen, H.; Morris, Michael Andréw; Rossier, Colette; Blouin, Jean-Louis; Antonarakis, Stylianos |
1995 |
unige:8953 |
Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3 |
Giacobino, Ariane; Chen, Haiming; Peitsch, M. C.; Rossier, Colette; Antonarakis, Stylianos |
1997 |
unige:8666 |
Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes |
Castelo, Robert; Reymond, Alexandre; Wyss, Carine; Camara, Francisco; ... Eyras, Eduardo |
2005 |
unige:30585 |
Comparative genome and proteome analysis of Anopheles gambiae and Drosophila melanogaster |
Zdobnov, Evgeny; von Mering, Christian; Letunic, Ivica; Torrents, David; ... Bork, Peer |
2002 |
unige:8770 |
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes |
Guigo, Roderic; Dermitzakis, Emmanouil; Agarwal, Pankaj; Ponting, C. P.; ... Brent, M. R. |
2003 |
unige:32726 |
Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family |
Tchou, Isabelle; Neerman Arbez, Marguerite; Beris, Photis |
2011 |
unige:9866 |
Drosophila melanogaster acetylcholinesterase gene: structure, evolution and mutations |
Fournier, Didier; Karch, François; Bride, Jean-Marc; Hall, Lucinda M.C.; ... Spierer, Pierre |
1989 |
unige:11445 |
Dysregulated expression of the Cd22 gene as a result of a short interspersed nucleotide element insertion in Cd22a lupus-prone mice |
Mary, Charles; Laporte, Catherine; Parzy, Daniel; Santiago-Raber, Marie-Laure; ... Reininger, Luc |
2000 |
unige:9167 |
Efficient targeted transcript discovery via array-based normalization of RACE libraries |
Djebali, Sarah; Kapranov, Philipp; Foissac, Sylvain; Lagarde, Julien; ... Guigo, Roderic |
2008 |
unige:9205 |
Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene |
Hutter, P.; Antonarakis, Stylianos; Delozier-Blanchet, C. D.; Morris, Michael Andréw |
1994 |