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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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Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol Bocchetta, Martina; Mega, Anna; Bernardi, Livia; Di Maria, Emilio; ... Bruni, Amalia C 2016
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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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Les tests génétiques peuvent-ils être utiles pour la prévention cardiovasculaire ? Bochud, Murielle; Fellmann, Florence; Guessous, Idris 2012
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Early Event-Related Cortical Activity Originating in the Frontal Eye Fields and Inferior Parietal Lobe Predicts the Occurrence of Correct and Error Saccades Ptak, Radek; Camen, Christian; Morand, Stéphanie; Schnider, Armin 2011
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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
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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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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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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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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 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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Inferior vena cava agenesis: Association with bilateral lower-limb deep vein thrombosis in young males Guanella, Raphaël; Glauser, Frédéric; Bounameaux, Henri; Mazzolai, Lucia 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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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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Do allelic variants of the connexin37 1019 gene polymorphism differentially predict for coronary artery disease and myocardial infarction? Wong Christen, Cindy Wai Yin; Christen, Thomas; Pfenniger, Anna; James, Richard William; Kwak, Brenda 2007
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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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L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique Fokstuen, Siv; Blouin, Jean-Louis; Lyle, Robert; Lerch, René; ... Sigwart, Ulrich 2005
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Primary care physicians' knowledge and attitudes towards genetic testing for breast-ovarian cancer predisposition Escher, Monica; Sappino, Pascal 2000
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Le cancer colo-rectal héréditaire sans polyadénomatose associée Pocard, M; Soravia, Claudio 1999
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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