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ANKRD26-related thrombocytopenia and myeloid malignancies Noris, Patrizia; Favier, Remi; Alessi, Marie-Christine; Geddis, Amy E; ... Balduini, Carlo L 2013
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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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Médecine de l'adolescence. Le poids des adolescents: un poids pour la famille? Narring, Françoise; Chamay-Weber, Catherine; Shehu, Shqipe; Lanza, Lydia 2011
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Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family Tchou, Isabelle; Neerman Arbez, Marguerite; Beris, Photis 2011
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Micro and macro population effects in disease transmission: the case of varicella Silhol, R.; Alvarez, F. P.; Arena, Christophe; Amoros, Jean Pierre; ... Boelle, Pierre-Yves 2010
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Follow-up study of the GIGYF2 gene in French families with Parkinson's disease Lesage, Suzanne; Condroyer, Christel; Lohman, Ebba; Troiano, André; ... Brice, Alexis 2010
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Affective response to a loved one's pain: insula activity as a function of individual differences Mazzola, Viridiana; Latorre, Valeria; Petito, Annamaria; Gentili, Nicoletta; ... Bondolfi, Guido 2010
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Evaluation of the overweight/obese child--practical tips for the primary health care provider: recommendations from the Childhood Obesity Task Force of the European Association for the Study of Obesity Baker, Jennifer L.; Farpour-Lambert, Nathalie; Nowicka, Paulina; Pietrobelli, Angelo; Weiss, Ram 2010
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Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy Dunand, Murielle; Lobrinus, Johannes Alexander; Jeannet, Pierre-Yves; Behin, Anthony; ... Kuntzer, Thierry 2009
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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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Obesity in long-term survivors of childhood acute lymphoblastic leukemia Asner, S.; Ammann, R. A.; Ozsahin, Ayse Hulya; Beck-Popovic, M.; von der Weid, N. X. 2008
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Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program Ehret, Georg Benedikt; Morrison, Alanna C.; O'Connor, Ashley A.; Grove, Megan L.; ... Chakravarti, Aravinda 2008
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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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Evolutionary comparison provides evidence for pathogenicity of RMRP mutations Bonafe, Luisa; Dermitzakis, Emmanouil; Unger, Sheila; Greenberg, C. R.; ... Reymond, Alexandre 2005
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Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency Germanos-Haddad, Myrna; De Moerloose, Philippe; Boehlen, Françoise; Peyvandi, Flora; Neerman Arbez, Marguerite 2005
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Risk factors of influenza transmission in households Viboud, Cecile; Boelle, Pierre-Yves; Cauchemez, Simon; Lavenu, Audrey; ... Carrat, Fabrice 2004
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Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain De Moerloose, Philippe; Germanos-Haddad, Myrna; Boehlen, Françoise; Neerman Arbez, Marguerite 2004
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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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The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion Lalioti, M. D.; Antonarakis, Stylianos; Scott, Hamish Steele 2003
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In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele 2002
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The molecular basis of inherited afibrinogenaemia Neerman Arbez, Marguerite 2001
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Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness Ben-Yosef, T.; Wattenhofer, M.; Riazuddin, S.; Ahmed, Z. M.; ... Morell, R. J. 2001
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Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis Hutter, Pierre; Rey-Berthod, C; Chappuis, Pierre; Couturier, A; ... Soravia, Claudio 2001
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An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree Radhakrishna, U.; Senol, S.; Herken, H.; Gucuyener, K.; ... Antonarakis, Stylianos 2001
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Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia Savioz, Armand; Kovari, Eniko Veronika; Anastasiu, R; Rossier, Colette; ... Leuba, G 2000
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Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region Berry, A.; Scott, Hamish Steele; Kudoh, J.; Talior, I.; ... Bonne-Tamir, B. 2000
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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity Blouin, Jean-Louis; Meeks, M.; Radhakrishna, U.; Sainsbury, A.; ... Antonarakis, Stylianos 2000
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Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes Pulver, A. E.; Mulle, J.; Nestadt, G.; Swartz, K. L.; ... McGrath, J. A. 2000
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The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations Radhakrishna, U.; Bornholdt, D.; Scott, Hamish Steele; Patel, U. C.; ... Antonarakis, Stylianos 1999
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Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity Mehenni, H.; Gehrig, Corinne; Nezu, J.; Oku, A.; ... Antonarakis, Stylianos 1998