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Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report Jenny, Benoît John; Radovanovic, Ivan; Haenggeli, Charles-Antoine; Delavelle, Jacqueline; ... Rilliet, Bénédict 2007
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Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease de Pontual, L.; Pelet, A.; Clement-Ziza, M.; Trochet, D.; ... Amiel, J. 2007
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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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Double frameshift mutations in APC and MSH2 in the same individual Soravia, Claudio; DeLozier, Celia; Dobbie, Zuzana; Berthod, Claudine Rey; ... Hutter, Pierre 2006
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Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region Lyle, Robert; Radhakrishna, Uppala; Blouin, Jean-Louis; Gagos, Sarantis; ... Antonarakis, Stylianos 2006
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Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor Landau, Ruth; Morales, M. A.; Antonarakis, Stylianos; Blouin, Jean-Louis; Smiley, R. M. 2005
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Double frameshift mutations in APC and MSH2 in the same individual Soravia, Claudio; De Lozier, Celia; Dobbie, Zuzana; Berthod, Claudine; ... Hutter, Pierre 2005
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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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Genetic variability of mu-opioid receptor in an obstetric population Landau, Ruth; Cahana, Alex; Smiley, R. M.; Antonarakis, Stylianos; Blouin, Jean-Louis 2004
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A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q Dauvilliers, Yves; Blouin, Jean-Louis; Neidhart, Elisabeth; Carlander, Bertrand; ... Tafti, Mehdi 2004
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A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 de Mollerat, X. J.; Gurrieri, Fiorella; Morgan, C. T.; Sangiorgi, Eugenio; ... Schwartz, C. E. 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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Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia Lewis, C. M.; Blouin, Jean-Louis; Antonarakis, Stylianos 2003
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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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Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers Gold, Gabriel; Blouin, Jean-Louis; Herrmann, François; Michon, Agnès; ... Antonarakis, Stylianos 2003
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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia Bartoloni, Lucia; Blouin, Jean-Louis; Pan, Yanzhen; Gehrig, Corinne; ... Antonarakis, Stylianos 2002
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Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia Bartoloni, Lucia; Blouin, Jean-Louis; Maiti, A. K.; Sainsbury, A.; ... Antonarakis, Stylianos 2001
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Prise en charge multidisciplinaire du cancer colorectal héréditaire Soravia, Claudio; Delozier-Blanchet, C; Blouin, Jean-Louis; Brundler, M. A.; ... Hutter, Pierre 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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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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