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 TitleAuthors / EditorsDate
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Mutational epidemiology of congenital fibrinogen disorders Casini, Alessandro; Blondon, Marc; Tintillier, Veronique; Goodyer, Matthew; ... Neerman Arbez, Marguerite 2018
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Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections Ogunjimi, Benson; Zhang, Shen-Ying; Sørensen, Katrine B; Fluss, Joel Victor; ... Mogensen, Trine H 2017
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APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication Seplyarskiy, Vladimir B; Soldatov, Ruslan A; Popadin, Konstantin; Antonarakis, Stylianos; ... Nikolaev, Sergey Igorievich 2016
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Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report Al Hamami, Hanan; Makrythanasis, Periklis; Al-Allawi, Nasir; Muhsin, Abdulrahman A; Antonarakis, Stylianos 2014
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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration van der Zee, Julie 2014
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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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Oncogenetics and minimal residual disease are independent outcome predictors in adult patients with acute lymphoblastic leukemia Beldjord, Kheira; Chevret, Sylvie; Asnafi, Vahid; Huguet, Françoise; ... Dombret, Hervé 2014
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Characterization of Streptococcus tigurinus small-colony variants causing prosthetic joint infection by comparative whole-genome analyses Zbinden, Andrea; Quiblier, Chantal; Hernandez, David; Herzog, Kathrin; ... Francois, Patrice 2014
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Toward a NOTCH1/FBXW7/RAS/PTEN-based oncogenetic risk classification of adult T-cell acute lymphoblastic leukemia: a Group for Research in Adult Acute Lymphoblastic Leukemia study Trinquand, Amélie; Tanguy-Schmidt, Aline; Ben Abdelali, Raouf; Lambert, Jérôme; ... Asnafi, Vahid 2013
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NADPH oxidase elevations in pyramidal neurons drive psychosocial stress-induced neuropathology Schiavone, Stefania; Jaquet, Vincent; Sorce, Silvia; Dubois-Dauphin, Michel; ... Krause, Karl-Heinz 2012
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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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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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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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Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite 2012
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Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing Ratnamala, Uppala; Lyle, Robert; Rawal, Rakesh; Singh, Raminder; ... Radhakrishna, Uppala 2011
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Two different fibrinogen gene mutations associated with bleeding in the same family (A αGly13Glu and γGly16Ser) and their impact on fibrin clot properties: fibrinogen Krakow II and Krakow III. Pietrys, Danuta; Balwierz, Walentyna; Iwaniec, Teresa; Vorjohann, Silja; ... Undas, Anetta 2011
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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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Marked hemiatrophy in carriers of Duchenne muscular dystrophy Rajakulendran, Sanjeev; Kuntzer, Thierry; Dunand, Murielle; Yau, Shu C.; ... Hanna, Michael G. 2010
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A map of human genome variation from population-scale sequencing 1000 Genomes Project Consortium 2010
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Telomere length is not predictive of dementia or MCI conversion in the oldest old Zekry Berger, Dina Selma; Herrmann, François; Irminger-Finger, Irmgard; Ortolan, Laura; ... Krause, Karl-Heinz 2010
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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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The CST3 B haplotype is associated with frontotemporal lobar degeneration Benussi, L; Ghidoni, R; Galimberti, D; Boccardi, Marina; ... Binetti, G 2010
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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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Rhinovirus genome evolution during experimental human infection Cordey, Samuel; Junier, Thomas; Gerlach, Daniel; Gobbini, Francesca; ... Kaiser, Laurent 2010
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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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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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Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms Ibáñez, Pablo; Lesage, Suzanne; Janin, Sabine; Lohmann, Ebba; ... Brice, Alexis 2009
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A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream Robert-Ebadi, Helia; De Moerloose, Philippe; El Khorassani, M.; El Khattab, M.; Neerman Arbez, Marguerite 2009
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A multidisciplinary study of patients with early-onset PD with and without parkin mutations Lohmann, E.; Thobois, S.; Lesage, S.; Broussolle, E.; ... Brice, A. 2009
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Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; ... Antonarakis, Stylianos 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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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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Are parkin patients particularly suited for deep-brain stimulation? Lohmann, Ebba; Welter, Marie-Laure; Fraix, Valerie; Krack, Paul; ... Brice, Alexis 2008
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Impaired E-cadherin expression and glutamine synthetase overexpression in solid pseudopapillary neoplasm of the pancreas Audard, Virginie; Cavard, Catherine; Richa, Hubert; Genevay-Infante, Muriel; ... Flejou, Jean-Francois 2008
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Spontaneous rupture of a gastrointestinal stromal tumour associated with life-threatening nontraumatic hemoperitoneum Bucher, Pascal; Poletti, Pierre Alexandre; Myit, Samir; Morel, Philippe 2008
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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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TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness Guipponi, Michel; Antonarakis, Stylianos; Scott, Hamish Steele 2008
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Candidate genes for temporal lobe epilepsy: a replication study Trachsler-Salzmann, Annick; Perroud, Nader; Crespel, Arielle; Lambercy, Carmen; Malafosse, Alain 2008
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Candidate gene analysis in three families with acilia syndrome Wessels, Marja W.; Avital, Avraham; Failly, Mike; Munoz, Analia; ... Willems, Patrick J. 2008
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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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A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother Dayer, Alexandre; Bottani, Armand; Bouchardy, Isabelle; Fluss, Joel Victor; ... Morris, Michael Andréw 2007
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ATM alterations in childhood non-Hodgkin lymphoma Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David R; Sappino, Pascal 2006
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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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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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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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Structural basis for the molecular recognition between human splicing factors U2AF65 and SF1/mBBP Selenko, Philipp; Gregorovic, Goran; Sprangers, Remco; Stier, Gunter; ... Sattler, Michael 2003
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PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse Peeters, H; Debeer, P; Bairoch, Amos Marc; Wilquet, V; ... Devriendt, Koenraad 2003
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Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum Soravia, Claudio; van der Klift, Heleen; Brundler, Marie-Anne; Blouin, Jean-Louis; ... Delozier-Blanchet, Célia 2003
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Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency Lebon, S; Chol, M; Benit, P; Mugnier, C; ... Munnich, A 2003
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