Search Results - "LePaslier, D"

Characterization by Yeast Artificial Chromosome Cloning of the Linked Apolipoprotein(a) and Plasminogen Genes and Identification of the Apolipoprotein(a) 5' Flanking Region by Malgaretti, N., Acquati, F., Magnaghi, P., Bruno, L., Pontoglio, M., Rocchi, M., Saccone, S., Della Valle, G., M. D.'Urso, LePaslier, D., Ottolenghi, S., Taramelli, R.

“…The apoprotein(a)[apo(a)] gene encodes a protein component of the circulating lipoprotein(a)[Lp(a)]. The apo(a) gene is highly homologous to the plasminogen…”
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Characterization of the region of the short arm of chromosome 8 amplified in breast carcinoma by Dib, A, Adélaïde, J, Chaffanet, M, Imbert, A, Le Paslier, D, Jacquemier, J, Gaudray, P, Theillet, C, Birnbaum, D, Pébusque, M J

“…Chromosomal region 8p11.2-p12 is consistently amplified in human breast cancer. We have constructed a 2.8 Mb YAC contig of this region, centered on the human…”
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Molecular analysis of the genomic structure of the human Y chromosome in the euchromatic part of its long arm (Yq11) by Kirsch, S, Keil, R, Edelmann, A, Henegariu, O, Hirschmann, P, LePaslier, D, Vogt, P H

“…Conventional methods of long range restriction mapping for analysis of the genomic DNA structure failed in Yq11, because single-copy DNA probes for blot…”
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Description of a 700-kb yeast artificial chromosome contig containing the BCL1 translocation breakpoint region at 11q13 by Szepetowski, P, Perucca-Lostanlen, D, Grosgeorge, J, LePaslier, D, Brownstein, B H, Carle, G F, Gaudray, P

“…We screened two human yeast artificial chromosome (YAC) libraries by polymerase chain reaction (PCR) with oligonucleotides specific to the BCL1 major…”
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An Integrated YAC Clone Contig for the WAGR Region on Human Chromosome 11p13–p14.1 by GAWIN, B., KLAMT, B., KÖNIG, A., THÄTE, C., LEPASLIER, D., CHUMAKOV, I., BHOGAL, R., ZEHETNER, G., BRUNS, G., GESSLER, M.

“…The WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) deletion region on chromosome 11p13 has been extensively…”
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Identification and characterization of a spinal muscular atrophy-determining gene by Lefebvre, Suzie, Bürglen, Lydie, Reboullet, Sophie, Clermont, Olivier, Burlet, Philippe, Viollet, Louis, Benichou, Bernard, Cruaud, Corinne, Millasseau, Philippe, Zeviani, Massimo, Le Paslier, Denis, Frézal, Jean, Cohen, Daniel, Weissenbach, Jean, Munnich, Arnold, Melki, Judith

“…Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons, leading to progressive…”
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Characterization of a microdissection library from human chromosome region 3p14 by Bardenheuer, W, Szymanski, S, Lux, A, Lüdecke, H J, Horsthemke, B, Claussen, U, Senger, G, Smith, D I, Wang, N D, LePaslier, D

“…Structural alterations in human chromosome region 3p14-p23 resulting in the inactivation of one or more tumor suppressor genes are thought to play a pathogenic…”
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Kerato-epithelin mutations in four 5q31-linked corneal dystrophies by Korvatska, Elena, Schorderet, Daniel F, Zografos, Leonidas, Pescia, Graziano, Paslier, Denis Le, Munier, Francis L, Djemaï, Assia

“…Granular dystrophy Groenouw type I (CDGG1), Reis-Bücklers (CDRB), lattice type I (CDL1) and Avellino (ACD) are four 5q31-linked human autosomal dominant…”
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The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion by ROMANA, S. P, MAUCHAUFFE, M, LE CONIAT, M, CHUMAKOV, I, LE PASLIER, D, BERGER, R, BERNARD, O. A

“…Analysis of a growing number of chromosomal translocations in human tumors have shown that they frequently result in gene fusions encoding chimeric proteins…”
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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis by Dollfus, Hélène, Calvas, Patrick, Munnich, Arnold, Souied, Eric, Ghazi, Ihmad, Rozet, Jean Michel, Perrault, Isabella, Camuzat, Agnès, Châtelin, Sophie, Paslier, Denis Le, Dufier, Jean-Louis, Gerber, Sylvie, Pittler, Steven, Bonnemaison, Michel, Frézal, Jean, Leowski, Corinne, Kaplan, Josseline

“…Leber's congenital amaurosis (LCA, MIM 204,000), the earliest and most severe form of inherited retinopathy, accounts for at least 5% of all inherited retinal…”
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Identification and characterization of the familial adenomatous polyposis coli gene by Groden, J, Thliveris, A, Samowitz, W, Carlson, M, Gelbert, L, Albertsen, H, Joslyn, G, Stevens, J, Spirio, L, Robertson, M

“…DNA from 61 unrelated patients with adenomatous polyposis coli (APC) was examined for mutations in three genes (DP1, SRP19, and DP2.5) located within a 100 kb…”
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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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Human Chromosomal Fragile Site FRA16B Is an Amplified AT-Rich Minisatellite Repeat by Yu, Sui, Mangelsdorf, Marie, Hewett, Duncan, Hobson, Lynne, Baker, Elizabeth, Eyre, Helen J, Lapsys, Naras, Le Paslier, Denis, Doggett, Norman A, Sutherland, Grant R, Richards, Robert I

“…Fragile sites are nonstaining gaps in chromosomes induced by specific tissue culture conditions. They vary both in population frequency and in the culture…”
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De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies by Melki, Judith, Lefebvre, Suzie, Burglen, Lydie, Burlet, Philippe, Clermont, Olivier, Millasseau, Philippe, Reboullet, Sophie, Bénichou, Bernard, Zeviani, Massimo, Le Paslier, Denis, Cohen, Daniel, Weissenbach, Jean, Munnich, Arnold

“…Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood spinal muscular atrophies…”
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The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules by Legouis, R, Hardelin, J P, Levilliers, J, Claverie, J M, Compain, S, Wunderle, V, Millasseau, P, Le Paslier, D, Cohen, D, Caterina, D

“…Kallmann syndrome associates hypogonadotropic hypogonadism and anosmia and is probably due to a defect in the embryonic migration of olfactory and…”
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Continuum of overlapping clones spanning the entire human chromosome 21q by Chumakov, Ilya, Rigault, Philippe, Guillou, Sophie, Ougen, Pierre, Billaut, Alain, Guasconi, Ghislaine, Gervy, Patricia, LeGall, Isabelle, Soularue, Pascal, Grinas, Laurent, Bougueleret, Lydie, Bellanné-Chantelot, Christine, Lacroix, Bruno, Barillot, Emmanuel, Gesnouin, Philippe, Pook, Stuart, Vaysseix, Guy, Frelat, Gerard, Schmitz, Annette, Sambucy, Jean-Luc, Bosch, Assumpcio, Estivill, Xavier, Weissenbach, Jean, Vignal, Alain, Riethman, Harold, Cox, David, Patterson, David, Gardiner, Kathleen, Hattori, Masahira, Sakaki, Yoshiyuki, Ichikawa, Hitoshi, Ohki, Misao, Paslier, Denis Le, Heilig, Roland, Antonarakis, Stylianos, Cohen, Daniel

“…A continuous array of overlapping clones covering the entire human chromosome 21q was constructed from human yeast artificial chromosome libraries using…”
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Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis by Konrad, Martin, Saunier, Sophie, Heidet, Laurence, Silbermann, Flora, Benessy, France, Calado, Joaquim, Le Paslier, Denis, Broyer, Michel, Gubler, Marie-Claire, Antignac, Corinne

“…Juvenile nephronophthisis (NPH) is a genetically heterogeneous disorder representing the most frequent inherited cause of chronic renal failure in children. We…”
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The CIC library: a large insert YAC library for genome mapping in Arabidopsis thaliana by Creusot, Francine, Fouilloux, Eric, Dron, Michel, Lafleuriel, Jacqueline, Picard, Georges, Billault, Alain, Paslier, Denis, Cohen, Daniel, Chabouté, Marie‐Edith, Durr, Andrée, Fleck, Jacqueline, Gigot, Claude, Camilleri, Christine, Bellini, Catherine, Caboche, Michel, Bouchez, David

“…A new Arabidopsis thaliana (ecotype Columbia) genomic library has been constructed in Yeast Artificial Chromosomes: the CIC library (for CEPH, INRA and CNRS)…”
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Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping by Dib, C, Belal, S, Cohen, D, Novelli, G, Reutenauer, L, Ben Hamida, C, Mandel, J.-L, Linder, C, Vignal, A, Gyapay, G, Doerflinger, N, Hentati, F, Mokini, V, Kœnig, M, Le Paslier, D, Ben Hamida, M, Pandolfo, M

“…Friedreich ataxia and ataxia with selective vitamin E deficiency (AVED) share very similar clinical phenotypes. We have mapped the AVED locus to proximal 8q…”
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A second-generation YAC contig map of human chromosome 12 by Krauter, K, Montgomery, K, Yoon, S J, LeBlanc-Straceski, J, Renault, B, Marondel, I, Herdman, V, Cupelli, L, Banks, A, Lieman, J

“…Human chromosome 12 constitutes approximately 4.5% of the human genome and has an estimated size of 135 million base pairs (Mb). We have started to construct a…”
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