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 TitleAuthors / EditorsDate
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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
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Molecular genetics of coagulation factor VIII gene and hemophilia A Antonarakis, Stylianos 1995
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Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Gitschier, J.; Hutter, P.; ... Morris, Michael Andréw 1995
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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
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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
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Ischaemic colitis due to mitochondrial cytopathy Hess, J; Burkhard, Pierre; Morris, Michael Andréw; Lalioti, M; ... Hadengue, Antoine 1995
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Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Tuddenham, E. G. 1995
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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
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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
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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
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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
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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
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Bone marrow transplantation as treatment for X-linked immunodeficiency with hyper-IgM. Bordigoni, P; Auburtin, B; Carret, A S; Schuhmacher, A; ... Sommelet, D 1998
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Molecular genetics of coagulation factor VIII gene and haemophilia A Antonarakis, Stylianos 1998
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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
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Mutational analysis of cysteine-string protein function in insulin exocytosis Zhang, H.; Kelley, William; Chamberlain, L. H.; Burgoyne, R. D.; Lang, Jochen 1999
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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
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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
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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
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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
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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
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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
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ATM promoter analysis in childhood lymphoid malignancies: a brief communication Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David R; Sappino, Pascal 2006
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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
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p23/Sba1p protects against Hsp90 inhibitors independently of its intrinsic chaperone activity Forafonov, Fedor; Toogun, Oyetunji A.; Grad, Iwona; Suslova, Elena; ... Picard, Didier 2008
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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
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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
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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
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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
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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
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Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis 2010
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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
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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