Search Results - "LE PASLIER, D. L"

Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region by Bates, G.P, Valdes, J, Hummerich, H, Baxendale, S, Le Paslier, D.L, Monaco, A.P, Tagle, D, MacDonald, M.E, Altherr, M, Ross, M

“…The Huntington's disease (HD) gene has been localized by recombination events to a region covering 2.2 megabases (Mb) DNA within chromosome 4p16.3. We have…”
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Isolation and structural analysis of a 1.2-megabase N-myc amplicon from a human neuroblastoma by SCHNEIDER, S. S, HIEMSTRA, J. L, ZEHNBAUER, B. A, TAILLON-MILLER, P, LE PASLIER, D. L, VOGELSTEIN, B, BRODEUR, G. M

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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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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Identification of deletion mutations and three new genes at the familial polyposis locus by Joslyn, G, Carlson, M, Thliveris, A, Albertsen, H, Gelbert, L, Samowitz, W, Groden, J, Stevens, J, Spirio, L, Robertson, M

“…Small (100-260 kb), nested deletions were characterized in DNA from two unrelated patients with familial adenomatous polyposis coli (APC). Three candidate…”
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Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43 by BARRAT, F. J, AULOGE, L, PASTURAL, E, DUFOURCQ LAGELOUSE, R, VILMER, E, CANT, A. J, WEISSENBACH, J, LE PASLIER, D, FISCHER, A, DE SAINT BASILE, G

“…The Chediak-Higashi syndrome (CHS) is a severe autosomal recessive condition, features of which are partial oculocutaneous albinism, increased susceptibility…”
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The B-Lymphocyte Maturation Promoting Transcription Factor BLIMP1/PRDI-BF1 Maps to D6S447 on Human Chromosome 6q21–q22.1 and the Syntenic Region of Mouse Chromosome 10 by Mock, Beverly A., Liu, Limin, Paslier, Denis Le, Huang, Shi

“…The human PRDI-BF1 or BLIMP1 gene and its mouse homolog Blimp1 are members of the recently realized PR domain family that includes the retinoblastoma…”
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A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene by Vincent, C, Kalatzis, V, Compain, S, Levilliers, J, Slim, R, Graia, F, Pereira, M L, Nivelon, A, Croquette, M F, Lacombe, D

“…The analysis of a de novo 8q12.2-q21.2 deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of…”
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A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene by Guilford, P, Ayadi, H, Blanchard, S, Chaib, H, Le Paslier, D, Weissenbach, J, Drira, M, Petit, C

“…The identification of mouse models for the various forms of human neurosensory non-syndromic recessive deafness would constitute a major advance in the study…”
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Deletion cartography around the D13S25 locus in B cell chronic lymphocytic leukemia and accurate mapping of the involved tumor suppressor gene by DEVILDER, M. C, FRANCOIS, S, BOSIC, C, MOREAU, A, MELLERIN, M. P, LE PASLIER, D, BATAILLE, R, MOISAN, J. P

“…The presence of an unidentified tumor suppressor gene on the long arm of chromosome 13 which could be involved in the development of B cell chronic lymphocytic…”
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Von Hippel-Lindau syndrome : cloning and identification of the plasma membrane Ca++-transporting ATPase isoform 2 gene that resides in the Von Hippel-Lindau gene region by LATIF, F, FUH-MEI DUH, HUA LI, ORCUTT, M. L, MAHER, E, RICHARDS, F, PHIPPS, M, FERGUSON-SMITH, M, LE PASLIER, D, LINEHAN, W. M, ZBAR, B, LERMAN, M. I, GNARRA, J, TORY, K, KUZMIN, I, YAO, M, STACKHOUSE, T, MODI, W, GEIL, L, SCHMIDT, L

“…We have isolated and analyzed full-length complementary DNA clones encoded by a 200-kilobase gene encompassing the D3S601 locus that resides in the von…”
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Integrated Map of the Chromosome 8p12–p21 Region, a Region Involved in Human Cancers and Werner Syndrome by Imbert, Alexandra, Chaffanet, Max, Essioux, Laurent, Noguchi, Tetsuro, Adélaı̈de, José, Kerangueven, Fabienne, Le Paslier, Denis, Bonaı̈ti-Pellié, Catherine, Sobol, Hagay, Birnbaum, Daniel, Pébusque, Marie-Josèphe

“…Detailed physical maps of the human genome are important resources for the identification and isolation of disease genes and for studying the structure and…”
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A YAC contig spanning a cluster of human type III receptor protein tyrosine kinase genes (PDGFRA-KIT-KDR) in chromosome segment 4q12 by Spritz, R A, Strunk, K M, Lee, S T, Lu-Kuo, J M, Ward, D C, Le Paslier, D, Altherr, M R, Dorman, T E, Moir, D T

“…We have mapped five genes encoding protein tyrosine kinases (PTKs) to the pericentromeric region of human chromosome 4. PTK4 and TYRO4, which encode…”
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Cloning the human major histocompatibility complex in YACs by Abderrahim, H, Sambucy, J L, Iris, F, Ougen, P, Billault, A, Chumakov, I M, Dausset, J, Cohen, D, Le Paslier, D

“…To clone the human major histocompatibility complex (MHC), 53 YACs, with an average size of 490 kb, were isolated and characterized from the CEPH YAC library…”
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Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity by Medhioub, M, Cherif, D, Benessy, F, Silbermann, F, Gubler, M C, Le Paslier, D, Cohen, D, Weissenbach, J, Beckmann, J, Antignac, C

“…Familial juvenile nephronophthisis (NPH) is an autosomal recessive progressive tubulo-interstitial kidney disorder, responsible for 6-10% of end-stage renal…”
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A human chromosome 7 yeast artificial chromosome (YAC) resource: construction, characterization, and screening by Green, Eric D., Braden, Valerie V., Fulton, Robert S., Lim, Regina, Ueltzen, Melinda S., Peluso, Dale C., Mohr-Tidwell, Rose M., Idol, Jacquelyn R., Smith, Leslie M., Chumakov, Ilya, Le Paslier, Denis, Cohen, Daniel, Featherstone, Terence, Green, Philip

“…The paradigm of sequence-tagged site (STS)-content mapping involves the systematic assignment of STSs to individual cloned DNA segments. To date, yeast…”
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Structure and Physical Mapping of DR1, a TATA-Binding Protein-Associated Phosphoprotein Gene, to Chromosome 1p22.1 and Its Exclusion in Stargardt Disease (STGD) by Rozet, Jean-Michel, Gerber, Sylvie, Perrault, Isabelle, Camuzat, Agnès, Calvas, Patrick, Viegas-Pequignot, Evani, Molina-Gomes, Denise, Le Paslier, Denis, Chumakov, Ilya, Munnich, Arnold, Kaplan, Josseline

“…Several phosphoproteins are known to interact with TATA-binding proteins (TBP). Among them, DR1 is a TBP-associated phosphoprotein that represses both basal…”
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FISH-Mapped CEPH YACs Spanning 0 to 46 cM on Human Chromosome 6 by Bray-Ward, P., Bowlus, C., Choi, J., Paslier, D.Le, Weissenbach, J., Gruen, J.R.

“…Seventy-six CEPH YACs were mapped by fluorescencein situhybridization (FISH) to human metaphase chromosomes. These clones have been ordered from pter to 46 cM…”
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A YAC Contig and an EST Map in the Pericentromeric Region of Chromosome 13 Surrounding the Loci for Neurosensory Nonsyndromic Deafness (DFNB1 and DFNA3) and Limb-Girdle Muscular Dystrophy Type 2C (LGMD2C) by Guilford, Parry, Dodé, Catherine, Crozet, Fabien, Blanchard, Stéphane, Chaı̈b, Hassan, Levilliers, Jacqueline, Levi-Acobas, Fabienne, Weil, Dominique, Weissenbach, Jean, Cohen, Daniel, Le Paslier, Denis, Kaplan, Jean-Claude, Petit, Christine

“…Two forms of inherited childhood nonsyndromic deafness (DFNB1 and DFNA3) and a Duchenne-like form of progressive muscular dystrophy (LGMD2C) have been mapped…”
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Construction of a YAC contig and a STS map spanning at least seven megabasepairs in chromosome 5q34-35 by Lu-Kuo, J M, Le Paslier, D, Weissenbach, J, Chumakov, I, Cohen, D, Ward, D C

“…We have constructed a YAC contig containing 54 clones and a minimum of 7 Mbp of human DNA, that maps to bands q34-35 on chromosome 5. The contig was nucleated…”
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