| | Title | Authors / Editors | Date |
|
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 |
|
unige:9128 |
Molecular genetics of coagulation factor VIII gene and hemophilia A |
Antonarakis, Stylianos |
1995 |
|
unige:9130 |
Molecular etiology of factor VIII deficiency in hemophilia A |
Antonarakis, Stylianos; Kazazian, H. H.; Gitschier, J.; Hutter, P.; ... Morris, Michael Andréw |
1995 |
|
unige:9131 |
Molecular etiology of factor VIII deficiency in hemophilia A |
Antonarakis, Stylianos; Kazazian, H. H.; Tuddenham, E. G. |
1995 |
|
unige:9271 |
Processing of proinsulin by furin, PC2, and PC3 in (co) transfected COS (monkey kidney) cells |
Vollenweider, F.; Kaufmann, J.; Irminger, J. C.; Halban, Philippe A. |
1995 |
|
unige:54889 |
Ischaemic colitis due to mitochondrial cytopathy |
Hess, J; Burkhard, Pierre; Morris, Michael Andréw; Lalioti, M; ... Hadengue, Antoine |
1995 |
|
unige:38117 |
A highly recombinogenic system for the recovery of infectious Sendai paramyxovirus from cDNA: generation of a novel copy-back nondefective interfering virus |
Garcin, Dominique; Pelet, Thierry; Calain, Philippe; Roux, Laurent; ... Kolakofsky, Daniel |
1995 |
|
unige:139732 |
A Sendai virus vector leading to the efficient expression of mutant M proteins interfering with virus particle budding |
Mottet-Osman, Geneviève; Muehlemann, Andréas Samuel; Tapparel, Caroline; Hoffmann, Frédéric Olivier; Roux, Laurent |
1996 |
|
unige:17547 |
Essential domains of the PRP21 splicing factor are implicated in the binding to PRP9 and PRP11 proteins and are conserved through evolution |
Rain, J C; Tartakoff, A M; Kraemer, Angela; Legrain, P |
1996 |
|
unige:8844 |
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) |
Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... Antonarakis, Stylianos |
1997 |
|
unige:38121 |
A point mutation in the Sendai virus accessory C proteins attenuates virulence for mice, but not virus growth in cell culture |
Garcin, Dominique; Itoh, M; Kolakofsky, Daniel |
1997 |
|
unige:13254 |
Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal |
Roth, M.; Giraldo, P.; Hariti, G.; Poloni, Estella S.; ... Coppin, H. |
1997 |
|
unige:74619 |
Bone marrow transplantation as treatment for X-linked immunodeficiency with hyper-IgM. |
Bordigoni, P; Auburtin, B; Carret, A S; Schuhmacher, A; ... Sommelet, D |
1998 |
|
unige:8599 |
Molecular genetics of coagulation factor VIII gene and haemophilia A |
Antonarakis, Stylianos |
1998 |
|
unige:17546 |
Conservation of functional domains involved in RNA binding and protein-protein interactions in human and Saccharomyces cerevisiae pre-mRNA splicing factor SF1 |
Rain, J C; Rafi, Zahra; Rhani, Zakaria; Legrain, P; Kraemer, Angela |
1998 |
|
unige:7715 |
Mutational analysis of cysteine-string protein function in insulin exocytosis |
Zhang, H.; Kelley, William; Chamberlain, L. H.; Burgoyne, R. D.; Lang, Jochen |
1999 |
|
unige:11335 |
Dimeric RFX proteins contribute to the activity and lineage specificity of the interleukin-5 receptor alpha promoter through activation and repression domains |
Iwama, A.; Pan, J.; Zhang, P.; Reith, Walter; ... Sun, Z. |
1999 |
|
unige:11168 |
Both transmembrane domains of SecG contribute to signal sequence recognition by the Escherichia coli protein export machinery |
Bost, S.; Silva, Filo; Rudaz, C.; Belin, Dominique |
2000 |
|
unige:56147 |
Hypothesis for generation of the unstable Hb Bucuresti (beta 42 Phe-->Leu) mutation |
Von Planta, Maya; Humbert, James Ronald; Wacker, Pierre; Rimensberger, Peter; ... Beris, Photis |
2001 |
|
unige:8619 |
Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T |
Attanasio, Catia; De Moerloose, Philippe; Antonarakis, Stylianos; Morris, Michael Andréw; Neerman Arbez, Marguerite |
2001 |
|
unige:3793 |
Intramembrane cleavage of microneme proteins at the surface of the apicomplexan parasite Toxoplasma gondii |
Opitz, Corinna; Di Cristina, Manlio; Reiss, Matthias; Ruppert, Thomas; ... Soldati-Favre, Dominique |
2002 |
|
unige:7431 |
Emergence of minor populations of human immunodeficiency virus type 1 carrying the M184V and L90M mutations in subjects undergoing structured treatment interruptions |
Metzner, K. J.; Bonhoeffer, Sebastian; Fischer, Marek; Karanicolas, Rose; ... Gunthard, Huldrych |
2003 |
|
unige:73118 |
ATM promoter analysis in childhood lymphoid malignancies: a brief communication |
Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David R; Sappino, Pascal |
2006 |
|
unige:9006 |
Fibrinogen gamma375 arg-->trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis |
Rubbia-Brandt, Laura; Neerman Arbez, Marguerite; Rougemont, A. L.; Male, P. J.; Spahr, Laurent |
2006 |
|
unige:4476 |
p23/Sba1p protects against Hsp90 inhibitors independently of its intrinsic chaperone activity |
Forafonov, Fedor; Toogun, Oyetunji A.; Grad, Iwona; Suslova, Elena; ... Picard, Didier |
2008 |
|
unige:902 |
Toxoplasma profilin is essential for host cell invasion and TLR11–dependent induction of an interleukin–12 response |
Plattner, Fabienne; Yarovinsky, Felix; Romero, Stephane; Didry, Dominique; ... Soldati-Favre, Dominique |
2008 |
|
unige:19331 |
Identification of a novel cis-regulatory element for UV-B-induced transcription in Arabidopsis |
Safrany, Judit; Haasz, Veronika; Mate, Zoltan; Ciolfi, Andrea; ... Nagy, Ferenc |
2008 |
|
unige:9061 |
Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function |
Undas, Anetta; Zdziarska, Joanna; Iwaniec, Teresa; Stepien, Ewa; ... Neerman Arbez, Marguerite |
2009 |
|
unige:25875 |
PAX5 mutations occur frequently in adult B-cell progenitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated with BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study |
Familiades, J; Bousquet, M; Lafage-Pochitaloff, M; Béné, M-C; ... Delabesse, E |
2009 |
|
unige:5480 |
Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation |
Zdziarska, Joanna; Undas, Anetta; Basa, Joanna; Iwaniec, Teresa; ... Neerman Arbez, Marguerite |
2009 |
|
unige:19747 |
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia |
Clot, Fabienne; Grabli, David; Cazeneuve, Cecile; Roze, Emmanuel; ... Brice, Alexis |
2009 |
|
unige:8901 |
Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects |
Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis |
2010 |
|
unige:89270 |
Analysis of Chlamydomonas thiamin metabolism in vivo reveals riboswitch plasticity |
Moulin, Michael; Nguyen, Ginnie T D T; Scaife, Mark A; Smith, Alison G; Fitzpatrick, Thérésa Bridget |
2013 |
|
unige:74126 |
Contribution of teg49 small RNA in the 5' upstream transcriptional region of sarA to virulence in Staphylococcus aureus |
Kim, Samin; Reyes, Dindo; Beaume, Marie-Emilie; Francois, Patrice; Cheung, Ambrose L. |
2014 |
|
unige:138255 |
A new mutation in the SQLE gene of Trichophyton mentagrophytes associated to terbinafine resistance in a couple with disseminated tinea corporis |
Hsieh, Aurélie; Quenan, Sandrine; Riat, Arnaud; Toutous Trellu, Laurence Marie; Fontao, Lionel |
2019 |
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