Search Results - "Faure, Sabine"

A comprehensive genetic map of the human genome based on 5,264 microsatellites by Dib, Colette, Fauré, Sabine, Fizames, Cécile, Samson, Delphine, Drouot, Nathalie, Vignal, Alain, Millasseau, Philippe, Marc, Sophie, Kazan, Jamile, Seboun, Eric, Lathrop, Mark, Gyapay, Gabor, Morissette, Jean, Weissenbach, Jean

“…The great increase in successful linkage studies in a number of higher eukaryotes during recent years has essentially resulted from major improvements in…”
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New Susceptibility Locus for Rheumatoid Arthritis Suggested by a Genome-Wide Linkage Study by Cornelis, Francois, Faure, Sabine, Martinez, Maria, Jean-Francois Prud'homme, Fritz, Pierre, Dib, Colette, Alves, Helena, Barrera, Pilar, De Vries, Niek, Balsa, Alejandro, Pascual-Salcedo, Dora, Maenaut, Kristin, Westhovens, Rene, Migliorini, Paola, Tran, Tuyet-Hoa, Delaye, Arnaud, Prince, Nathalie, Lefevre, Caroline, Thomas, Gaelle, Poirier, Murielle, Soubigou, Stephane, Alibert, Olivier, Lasbleiz, Sandra, Fouix, Sylvaine, Bouchier, Christiane, Liote, Frederic, Loste, Marie-Noelle, Lepage, Virginia, Charron, Dominique, Gyapay, Gabor, Lopes-Vaz, Antonio, Kuntz, Daniel, Bardin, Thomas, Weissenbach, Jean

“…Rheumatoid arthritis (RA), the most common autoimmune disease, is associated in families with other autoimmune diseases, including insulin-dependent diabetes…”
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A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome by Neyroud, Nathalie, Leibovici, Michel, Tesson, Frédérique, Donger, Claire, Denjoy, Isabelle, Gary, Françoise, Guicheney, Pascale, Coumel, Philippe, Petit, Christine, Barhanin, Jacques, Fauré, Sabine, Schwartz, Ketty

“…The Jervell and Lange-Nielsen (JLN) syndrome (MIM 220400) is an inherited autosomal recessive disease characterized by a congenital bilateral deafness…”
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An STS-Based Map of the Human Genome by Hudson, Thomas J., Stein, Lincoln D., Gerety, Sebastian S., Ma, Junli, Castle, Andrew B., Silva, James, Slonim, Donna K., Baptista, Rafael, Kruglyak, Leonid, Xu, Shu-Hua, Hu, Xintong, Angela M. E. Colbert, Rosenberg, Carl, Reeve-Daly, Mary Pat, Rozen, Steve, Hui, Lester, Wu, Xiaoyun, Vestergaard, Christina, Wilson, Kimberly M., Bae, Jane S., Maitra, Shanak, Ganiatsas, Soula, Evans, Cheryl A., DeAngelis, Margaret M., Ingalls, Kimberly A., Nahf, Robert W., Horton, Lloyd T., Anderson, Michele Oskin, Collymore, Alville J., Ye, Wenjuan, Kouyoumjian, Vardouhie, Zemsteva, Irena S., Tam, James, Devine, Richard, Courtney, Dorothy F., Renaud, Michelle Turner, Nguyen, Huy, O'Connor, Tara J., Fizames, Cécile, Fauré, Sabine, Gyapay, Gabor, Dib, Colette, Morissette, Jean, Orlin, James B., Birren, Bruce W., Goodman, Nathan, Weissenbach, Jean, Hawkins, Trevor L., Foote, Simon, Page, David C., Lander, Eric S.

“…A physical map has been constructed of the human genome containing 15,086 sequence-tagged sites (STSs), with an average spacing of 199 kilobases. The project…”
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Association between tumor necrosis factor receptor II and familial, but not sporadic, rheumatoid arthritis: Evidence for genetic heterogeneity by Dieudé, Philippe, Petit, Elisabeth, Cailleau‐Moindrault, Séverine, Osorio, José, Pierlot, Céline, Martinez, Maria, Fauré, Sabine, Alibert, Olivier, Lasbleiz, Sandra, De Toma, Claudia, Bardin, Thomas, Prum, Bernard, Cornélis, François

“…Objective Tumor necrosis factor α (TNFα) binds the receptors TNFRI and TNFRII. Results of genome scans have suggested that TNFR2 is a candidate rheumatoid…”
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Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy by FORISSIER, J.-F, CARRIER, L, DUBOURG, O, MILLAIRE, A, HAGEGE, A. A, DESNOS, M, KOMAJDA, M, SCHWARTZ, K, FARZA, H, BONNE, G, BERCOVICI, J, RICHARD, P, HAINQUE, B, TOWNSEND, P. J, YACOUB, M. H, FAURE, S

“…Familial hypertrophic cardiomyopathy is a phenotypically and genetically heterogeneous disease. In some families, the disease is linked to the CMH2 locus on…”
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Localization of the Gene for Thiamine-Responsive Megaloblastic Anemia Syndrome, on the Long Arm of Chromosome 1, by Homozygosity Mapping by Neufeld, Ellis J., Mandel, Hanna, Raz, Tal, Szargel, Raymonde, Yandava, Chandri N., Stagg, Amy, Fauré, Sabine, Barrett, Timothy, Buist, Neil, Cohen, Nadine

“…Thiamine-responsive megaloblastic anemia, also known as “TRMA” or “Rogers syndrome,” is an early-onset autosomal recessive disorder defined by the occurrence…”
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Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene by Michou, Laëtitia, Lasbleiz, Sandra, Rat, Anne-Christine, Migliorini, Paola, Balsa, Alejandro, Westhovens, René, Barrera, Pilar, Alves, Helena, Pierlot, Céline, Glikmans, Elodie, Garnier, Sophie, Dausset, Jean, Vaz, Carlos, Fernandes, Manuela, Petit-Teixeira, Elisabeth, Lemaire, Isabelle, Pascual-Salcedo, Dora, Bombardieri, Stefano, Dequeker, Jan, Radstake, Timothy R, Van Riel, Piet, van de Putte, Leo, Lopes-Vaz, Antonio, Prum, Bernard, Bardin, Thomas, Dieudé, Philippe, Cornélis, François

“…The tyrosine phosphatase PTPN22 allele 1858T has been associated with rheumatoid arthritis (RA) and other autoimmune diseases. RA is the most frequent of those…”
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A locus for Fanconi anemia on 16q determined by homozygosity mapping by GSCHWEND, M, LEVRAN, O, AUERBACH, A. D, BOTSTEIN, D, KRUGLYAK, L, RANADE, K, VERLANDER, P. C, SHEN, S, FAURE, S, WEISSENBACH, J, ALTAY, C, LANDER, E. S

“…We report the results of a genomewide scan using homozygosity mapping to identify genes causing Fanconi anemia, a genetically heterogeneous recessive disorder…”
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A YAC contig map of the human genome by Chumakov, I M, Rigault, P, Le Gall, I, Bellanné-Chantelot, C, Billault, A, Guillou, S, Soularue, P, Guasconi, G, Poullier, E, Gros, I

“…A yeast artificial chromosome library containing 33,000 clones with an average insert size of one megabase of human genomic DNA was extensively analysed by…”
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Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping by Hillaire, D, Leclerc, A, Fauré, S, Topaloglu, H, Chiannilkulchaï, N, Guicheney, P, Grinas, L, Legos, P, Philpot, J, Evangelista, T

“…Congenital muscular dystrophies (CMD) are autosomal recessive, heterogeneous disorders. The commonest forms are the Fukuyama CMD (FCMD), associated with mental…”
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A mutation in HERG Associated with Notched T waves in Long QT Syndrome by Dausse, Eric, Berthet, Myriam, Denjoy, Isabelle, André-Fouet, Xavier, Cruaud, Corrine, Bennaceur, Mohammed, Fauré, Sabine, Coumel, Philippe, Schwartz, Ketty, Guicheney, Pascale

“…Long QT syndrome (LQT) is a genetically heterogeneous inherited disorder that causes sudden death from cardiac arrhythmia. Four loci have been mapped to…”
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Genetic exclusion of 14 candidate genes in lipoatropic diabetes using linkage analysis in 10 consanguineous families by VIGOUROUX, C, KHALLOUF, E, BOURUT, C, ROBERT, J.-J, DE KERDANET, M, TUBIANA-RUFI, N, FAURE, S, WEISSENBACH, J, CAPEAU, J, MAGRE, J

“…Lipoatropic diabetes (LD) is a rare recessive autosomal disorder, mainly characterized by lipoatrophy with alterations in lipid metabolism and extreme insulin…”
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Aicardi-Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease? by Fauré, Sabine, Bordelais, Isabelle, Marquette, Catherine, Rittey, Chris, Campos-Castello, Jaime, Goutières, Françoise, Ponsot, Gérard, Weissenbach, Jean, Lebon, Pierre

“…Aicardi–Goutières syndrome (AGS) is a severe progressive familial encephalopathy, which is usually diagnosed shortly after birth. Using the principle of…”
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Maternal inheritance of chloroplast genome and paternal inheritance of mitochondrial genome in bananas (Musa acuminata) by Faurel, S. (CIRAD-BIOTROP, Montpellier (France)), Noyer, J.L, Carreel, F, Horry, J.P, Bakry, F, Lanaud, C

“…Restriction fragment length polymorphisms (RFLPs) were used as markers to determine the transmission of cytoplasmic DNA in diploid banana crosses. Progenies…”
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Assignment of the Mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis by AVELA, K, LIPSANEN-NYMAN, M, PERHEENTUPA, J, WALLGREN-PETTERSSON, C, MARCHAND, S, FAURE, S, SISTONEN, P, DE LA CHAPELLE, A, LEHESJOKI, A.-E

“…Mulibrey nanism (MUL) is an autosomal recessive disorder with unknown basic metabolic defect. It is characterized by growth failure of prenatal onset,…”
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Localization of the familial Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes

“…Chromosome 16p13.3 harbors a gene (MEF) associated with familial Mediterranean fever (FMF), a recessive disease very common in populations of Mediterranean…”
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Assignation of highly polymorphic markers on a canine purebred pedigree by Tiret, L, Kessler, J L, Bentolila, S, Fauré, S, Bach, J M, Weissenbach, J, Panthier, J J

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Genetic Exclusion of 14 Candidate Genes in Lipoatropic Diabetes Using Linkage Analysis in 10 Consanguineous Families 1 by Vigouroux, Corinne, Khallouf, Eliane, Bourut, Charlotte, Robert, Jean-Jacques, de Kerdanet, Marc, Tubiana-Rufi, Nadia, Fauré, Sabine, Weissenbach, Jean, Capeau, Jacqueline, Magré, Jocelyne

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Genetic Exclusion of 14 Candidate Genes in Lipoatropic Diabetes Using Linkage Analysis in 10 Consanguineous Families1 by Vigouroux, Corinne, Khallouf, Eliane, Bourut, Charlotte, Robert, Jean-Jacques, de Kerdanet, Marc, Tubiana-Rufi, Nadia, Fauré, Sabine, Weissenbach, Jean, Capeau, Jacqueline, Magré, Jocelyne

“…Lipoatropic diabetes (LD) is a rare recessive autosomal disorder, mainly characterized by lipoatrophy with alterations in lipid metabolism and extreme insulin…”
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