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Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation Hutter, Pierre; Couturier, A.; Scott, R. J.; Alday, P.; ... Buerstedde, J. M. 1996
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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
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Dépistage néonatal systématique de la mucoviscidose en Suisse: dès janvier 2011 Mornand, Anne; Barben, Jürg; Hafen, Gaudenz 2011
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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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DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects Hornef, Nada; Olbrich, Heike; Horvath, Judit; Zariwala, M. A.; ... Omran, Heymut 2006
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DNAI1 mutations explain only 2% of primary ciliary dykinesia Failly, Mike; Saitta, Alexandra; Munoz, Analia; Falconnet, Emilie; ... Blouin, Jean-Louis 2008
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Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis Naveed, Mohammed; Al-Ali, M. T.; Murthy, S. K.; Al-Hajali, Sarah; ... Radhakrishna, Uppala 2006
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Effect of the XbaI polymorphism of estrogen receptor alpha on postmenopausal gray matter Boccardi, Marina; Scassellati, Catia; Ghidoni, Roberta; Testa, Cristina; ... Frisoni, Giovanni 2008
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EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? Lesage, Suzanne; Condroyer, Christel; Klebe, Stephan; Lohmann, Ebba; ... Brice, Alexis 2012
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Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells Neerman Arbez, Marguerite; Germanos-Haddad, Myrna; Tzanidakis, Konstantinos; Vu, Dung; ... De Moerloose, Philippe 2004
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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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FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients Fokstuen, Siv; Antonarakis, Stylianos; Blouin, Jean-Louis 2003
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Functional characterisation of plasma fibrin clots in Polish carriers of fibrinogen gammaArg275His mutation (fibrinogen Zabrze) Undas, Anetta; Pastuszczak, Maciej; Iwaniec, Teresa; Kapelak, Krystyna; Neerman Arbez, Marguerite 2010
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Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome Marneros, A. G.; Mehenni, H.; Reichenberger, E.; Antonarakis, Stylianos; ... Olsen, B. R. 2001
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Genotype-phenotype correlations in attenuated adenomatous polyposis coli Soravia, Claudio; Berk, T; Madlensky, L; Mitri, A; ... Bapat, B 1998
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Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A' Vorjohann, Silja; Fish, Richard; Biron-Andreani, Christine; Nagaswami, Chandrasekaran; ... Neerman Arbez, Marguerite 2010
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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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Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency Tirefort, Yordanka; Uhr, Mario R; Neerman Arbez, Marguerite; De Moerloose, Philippe 2012
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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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Identification of VPS35 mutations replicated in French families with Parkinson disease Lesage, S; Condroyer, C; Klebe, S; Honoré, A; ... Brice, A 2012
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