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YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome Nadal, M.; Mila, M.; Pritchard, M.; Mur, A.; ... Estivill, X. 1996
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Unusually stable abnormal karyotype in a highly aggressive melanoma negative for telomerase activity Gagos, Sarantis; Papaioannou, George; Chiourea, Maria; Merk-Loretti, Sophie; ... Dahoun, Sophie 2008
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Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis Pangalos, C.; Avramopoulos, D.; Blouin, Jean-Louis; Raoul, O.; ... Antonarakis, Stylianos 1994
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Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome Dahmane, N.; Ghezala, G. A.; Gosset, P.; Chamoun, Z.; ... Delabar, J. M. 1998
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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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The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103 Neerman Arbez, Marguerite; Antonarakis, Stylianos; Blouin, Jean-Louis; Zeinali, S.; ... Tuddenham, E. G. 1997
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The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes Pulver, A. E.; Wolyniec, P. S.; Housman, D.; Kazazian, H. H.; ... Kempf, L. 1996
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The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Mehta, T. Y.; ... Antonarakis, Stylianos 1997
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The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene Berry, G. T.; Mallee, J. J.; Blouin, Jean-Louis; Antonarakis, Stylianos 1996
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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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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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Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 Blouin, Jean-Louis; Dombroski, B. A.; Nath, S. K.; Lasseter, V. K.; ... Pulver, A. E. 1998
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Schizophrenia susceptibility and chromosome 6p24-22 Antonarakis, Stylianos; Blouin, Jean-Louis; Pulver, A. E.; Wolyniec, P.; ... Dombroski, B. 1995
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Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice Fokstuen, Siv; Munoz, Analia; Melacini, Paola; Iliceto, Sabino; ... Blouin, Jean-Louis 2011
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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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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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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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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations Schwabe, Georg C.; Hoffmann, Katrin; Loges, Niki Tomas; Birker, Daniel; ... Bartoloni, Lucia 2008
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Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel Kherra, Sakina; Blouin, Jean-Louis; Santoni, Federico; Schwitzgebel Luscher, Valérie 2017
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Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4 Mehenni, H.; Blouin, Jean-Louis; Radhakrishna, U.; Bhardwaj, S. S.; ... Antonarakis, Stylianos 1997
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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane 2018
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Normal phenotype with paternal uniparental isodisomy for chromosome 21 Blouin, Jean-Louis; Avramopoulos, D.; Pangalos, C.; Antonarakis, Stylianos 1993
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No evidence for linkage between schizophrenia and markers at chromosome 15q13-14 Curtis, L.; Blouin, Jean-Louis; Radhakrishna, U.; Gehrig, Corinne; ... Antonarakis, Stylianos 1999
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No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) Maiti, A. K.; Bartoloni, Lucia; Mitchison, H. M.; Meeks, M.; ... Antonarakis, Stylianos 2000
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Next generation diagnostics on cardiomyopathy Blouin, Jean-Louis; Bevillard, Jeremy; Makrythanasis, Periklis; Guipponi, Michel; ... Fokstuen, Siv 2014
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Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia Moore, Daniel J.; Onoufriadis, Alexandros; Shoemark, Amelia; Simpson, Michael A.; ... Mitchison, Hannah M. 2013
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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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Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders Fokstuen, Siv; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Santoni, Federico; ... Blouin, Jean-Louis 2014
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Multiple mantleomas: an unusual clinical presentation of an intriguing tumour Thielen, A.-M; Blouin, Jean-Louis; Piris, A; Mihm, M C; Kaya, Guerkan 2014
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Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III Levinson, D. F.; Holmans, P.; Straub, R. E.; Owen, M. J.; ... Mallet, J. 2000
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Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events Dahoun, Sophie; Gagos, Sarantis; Gagnebin, Maryline; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Patel, U. C.; ... Antonarakis, Stylianos 1997
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Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22 Blouin, Jean-Louis; Duriaux Sail, Geneviève; Antonarakis, Stylianos 1996
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Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21 Blouin, Jean-Louis; Duriaux Sail, Geneviève; Chen, H.; Gos, A.; ... Antonarakis, Stylianos 1996
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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
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Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21 Antonarakis, Stylianos; Blouin, Jean-Louis; Lasseter, V. K.; Gehrig, Corinne; ... Pulver, A. E. 1999
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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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Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1 Blouin, Jean-Louis; Duriaux Sail, Geneviève; Guipponi, Michel; Rossier, Colette; ... Antonarakis, Stylianos 1998
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Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors Andrianova, Maria A; Chetan, Ghati Kasturirangan; Sibin, Madathan Kandi; Mckee, Thomas Alexander; ... Nikolaev, Sergey Igorievich 2017
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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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Genetic variability of the mu-opioid receptor influences intrathecal fentanyl analgesia requirements in laboring women Landau, Ruth; Kern, Christian; Columb, Malachy O.; Smiley, Richard M.; Blouin, Jean-Louis 2008
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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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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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Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant Anderson De La Llana, Sabrina; Klee, Philippe; Santoni, Federico; Stekelenburg, Caroline; ... Schwitzgebel Luscher, Valérie 2015
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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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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos 2016
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Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes Stekelenburg, Caroline; Gerster, Karine; Blouin, Jean-Louis; Lang-Muritano, Mariarosaria; ... Schwitzgebel Luscher, Valérie 2019
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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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Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia Rogan, P. K.; Close, P.; Blouin, Jean-Louis; Seip, J. R.; ... Antonarakis, Stylianos 1995
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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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