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Results: 1-25/102
KERATO-EPITHELIN MUTATIONS IN 4 5Q31-LINKED CORNEAL DYSTROPHIES
Authors: MUNIER FL KORVATSKA E DJEMAI A LEPASLIER D ZOGRAFOS L PESCIA G SCHORDERET DF
Citation: Fl. Munier et al., KERATO-EPITHELIN MUTATIONS IN 4 5Q31-LINKED CORNEAL DYSTROPHIES, Nature genetics, 15(3), 1997, pp. 247-251
A 5.5-MB HIGH-RESOLUTION INTEGRATED MAP OF DISTAL 11Q13
Authors: MERSCHER S BEKRI S DELEEUW B PEDEUTOUR F GROSGEORGE J SHOWS TB MULLENBACH R LEPASLIER D NOWAK NJ GAUDRAY P
Citation: S. Merscher et al., A 5.5-MB HIGH-RESOLUTION INTEGRATED MAP OF DISTAL 11Q13, Genomics, 39(3), 1997, pp. 340-347
CARBONIC-ANHYDRASE-II (CA-II) DEFICIENCY IN MAGHREBIAN PATIENTS - EVIDENCE FOR FOUNDER EFFECT AND GENOMIC RECOMBINATION AT THE CA-II LOCUS
Authors: FATHALLAH DM BEJAOUI M LEPASLIER D CHATER K SLY WS DELLAGI K
Citation: Dm. Fathallah et al., CARBONIC-ANHYDRASE-II (CA-II) DEFICIENCY IN MAGHREBIAN PATIENTS - EVIDENCE FOR FOUNDER EFFECT AND GENOMIC RECOMBINATION AT THE CA-II LOCUS, Human genetics, 99(5), 1997, pp. 634-637
A LONG-RANGE PHYSICAL MAP OF THE ENTIRE REGION OF HUMAN-CHROMOSOME 21Q22.1 BAND
Authors: EKI T ABE M FURUYA K AHMAD I KAWASHIMA K KISHIDA H FUJISHIMA N YOKOYAMA K LEPASLIER D COHEN D HANAOKA F MURAKAMI Y
Citation: T. Eki et al., A LONG-RANGE PHYSICAL MAP OF THE ENTIRE REGION OF HUMAN-CHROMOSOME 21Q22.1 BAND, Cytogenetics and cell genetics, 79(1-2), 1997, pp. 36-36
THE TRYPANOSOMA-CRUZI GENOME INITIATIVE
Authors: ZINGALES B RONDINELLI E DEGRAVE W DASILVEIRA JF LEVIN M LEPASLIER D MODABBER F DOBROKHOTOV B SWINDLE J KELLY JM ASLUND L HOHEISEL JD RUIZ AM CAZZULO JJ PETTERSSON U FRASCH AC
Citation: B. Zingales et al., THE TRYPANOSOMA-CRUZI GENOME INITIATIVE, Parasitology today, 13(1), 1997, pp. 16-22
HUMAN CHROMOSOMAL FRAGILE SITE FRA16B IS AN AMPLIFIED AT-RICH MINISATELLITE REPEAT
Authors: YU S MANGELSDORF M HEWETT D HOBSON L BAKER E EYRE HJ LAPSYS N LEPASLIER D DOGGETT NA SUTHERLAND GR RICHARDS RI
Citation: S. Yu et al., HUMAN CHROMOSOMAL FRAGILE SITE FRA16B IS AN AMPLIFIED AT-RICH MINISATELLITE REPEAT, Cell, 88(3), 1997, pp. 367-374
TOWARDS THE PHYSICAL MAP OF THE TRYPANOSOMA-CRUZI NUCLEAR GENOME - CONSTRUCTION OF YAC AND BAC LIBRARIES OF THE REFERENCE CLONE TRYPANOSOMA-CRUZI CL-BRENER
Authors: FERRARI I LORENZI H SANTOS MR BRANDARIZ S REQUENA JM SCHIJMAN A VAZQUEZ M DASILVEIRA JF BENDOV C MEDRANO C GHIO S BERGAMI PL CANO I ZINGALES B URMENYI TP RONDINELLI E GONZALEZ A CORTES A LOPEZ MC THOMAS MC ALONSO C RAMIREZ JL CHIURRILLO MA ALDAO RR BRANDAO A DEGRAVE W PERROT V SAUMIER M BILLAUT A COHEN D LEPASLIER D LEVIN MJ
Citation: I. Ferrari et al., TOWARDS THE PHYSICAL MAP OF THE TRYPANOSOMA-CRUZI NUCLEAR GENOME - CONSTRUCTION OF YAC AND BAC LIBRARIES OF THE REFERENCE CLONE TRYPANOSOMA-CRUZI CL-BRENER, Memorias do Instituto Oswaldo Cruz, 92(6), 1997, pp. 843-852
CLONING OF A GENE (RIG-G) ASSOCIATED WITH RETINOIC ACID-INDUCED DIFFERENTIATION OF ACUTE PROMYELOCYTIC LEUKEMIA-CELLS AND REPRESENTING A NEW MEMBER OF A FAMILY OF INTERFERON-STIMULATED GENES
Authors: YU M TONG JH MAO M KAN LX LIU MM SUN YW FU G JING YK YU L LEPASLIER D LANOTTE M WANG ZY CHEN Z WAXMAN S WANG YX TAN JZ CHEN SJ
Citation: M. Yu et al., CLONING OF A GENE (RIG-G) ASSOCIATED WITH RETINOIC ACID-INDUCED DIFFERENTIATION OF ACUTE PROMYELOCYTIC LEUKEMIA-CELLS AND REPRESENTING A NEW MEMBER OF A FAMILY OF INTERFERON-STIMULATED GENES, Proceedings of the National Academy of Sciences of the United Statesof America, 94(14), 1997, pp. 7406-7411
LACK OF EVIDENCE FOR CONNEXIN-43 GENE-MUTATIONS IN HUMAN AUTOSOMAL RECESSIVE LATERALIZATION DEFECTS
Authors: DEBRUS S TUFFERY S MATSUOKA R GALAL O SARDA P SAUER U BOZIO A TANMAN B TOUTAIN A CLAUSTRES M LEPASLIER D BOUVAGNET P
Citation: S. Debrus et al., LACK OF EVIDENCE FOR CONNEXIN-43 GENE-MUTATIONS IN HUMAN AUTOSOMAL RECESSIVE LATERALIZATION DEFECTS, Journal of Molecular and Cellular Cardiology, 29(5), 1997, pp. 1423-1431
POSITIONAL CLONING OF THE LOCUS FOR RUSSELL-SILVER-SYNDROME (RSS) ON CHROMOSOME
Authors: DOERR S FAERBER C MIDRO AT LEPASLIER D GIANNAKUDIS J HANSMANN I
Citation: S. Doerr et al., POSITIONAL CLONING OF THE LOCUS FOR RUSSELL-SILVER-SYNDROME (RSS) ON CHROMOSOME, American journal of human genetics, 61(4), 1997, pp. 693-693
RETINAL-SPECIFIC GUANYLATE-CYCLASE GENE-MUTATIONS IN LEBERS CONGENITAL AMAUROSIS
Authors: PERRAULT I ROZET JM CALVAS P GERBER S CAMUZAT A DOLLFUS H CHATELIN S SOUIED E GHAZI I LEOWSKI C BONNEMAISON M LEPASLIER D FREZAL J DUFIER JL PITTLER S MUNNICH A KAPLAN J
Citation: I. Perrault et al., RETINAL-SPECIFIC GUANYLATE-CYCLASE GENE-MUTATIONS IN LEBERS CONGENITAL AMAUROSIS, Nature genetics, 14(4), 1996, pp. 461-464
ADDITIONAL COPIES OF A 25 MB CHROMOSOMAL REGION ORIGINATING FROM 17Q23.1-17QTER ARE PRESENT IN 90-PERCENT OF HIGH-GRADE NEUROBLASTOMAS
Authors: MEDDEB M DANGLOT G CHUDOBA I VENUAT AM BENARD J AVETLOISEAU H VASSEUR B LEPASLIER D TERRIERLACOMBE MJ HARTMANN O BERNHEIM A
Citation: M. Meddeb et al., ADDITIONAL COPIES OF A 25 MB CHROMOSOMAL REGION ORIGINATING FROM 17Q23.1-17QTER ARE PRESENT IN 90-PERCENT OF HIGH-GRADE NEUROBLASTOMAS, Genes, chromosomes & cancer, 17(3), 1996, pp. 156-165
1.8-MEGABASES FINE PHYSICAL MAP ENCOMPASSING IFNAR AND AML1 LOCI ON HUMAN-CHROMOSOME 21Q22.1
Authors: EKI T ABE M FURUYA K FUJISHIMA N KISHIDA H SHIRATORI A YOKOYAMA K LEPASLIER D COHEN D MURAKAMI Y
Citation: T. Eki et al., 1.8-MEGABASES FINE PHYSICAL MAP ENCOMPASSING IFNAR AND AML1 LOCI ON HUMAN-CHROMOSOME 21Q22.1, DNA sequence, 6(2), 1996, pp. 95-108
LARGE HOMOZYGOUS DELETIONS OF THE 2Q13 REGION ARE A MAJOR CAUSE OF JUVENILE NEPHRONOPHTHISIS
Authors: KONRAD M SAUNIER S HEIDET L SILBERMANN F BENESSY F CALADO J LEPASLIER D BROYER M GUBLER MC ANTIGNAC C
Citation: M. Konrad et al., LARGE HOMOZYGOUS DELETIONS OF THE 2Q13 REGION ARE A MAJOR CAUSE OF JUVENILE NEPHRONOPHTHISIS, Human molecular genetics, 5(3), 1996, pp. 367-371
A LONG-RANGE PHYSICAL MAP OF HUMAN-CHROMOSOME 21Q22.1 BAND FROM THE YAC CONTINUUM
Authors: EKI T ABE M FURUYA K AHMAD I FUJISHIMA N KISHIDA H SHIRATORI A ONOZAKI T YOKOYAMA K LEPASLIER D COHEN D HANAOKA F MURAKAMI Y
Citation: T. Eki et al., A LONG-RANGE PHYSICAL MAP OF HUMAN-CHROMOSOME 21Q22.1 BAND FROM THE YAC CONTINUUM, Mammalian genome, 7(4), 1996, pp. 303-311
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/
Authors: MOCK BA LIU LM LEPASLIER D HUANG S
Citation: Ba. Mock et al., 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/, Genomics, 37(1), 1996, pp. 24-28
STRUCTURE AND PHYSICAL MAPPING OF DR1, A TATA-BINDING PROTEIN-ASSOCIATED PHOSPHOPROTEIN GENE, TO CHROMOSOME 1P22.1 AND ITS EXCLUSION IN STARGARDT DISEASE (STGD)
Authors: ROZET JM GERBER S PERRAULT I CAMUZAT A CALVAS P VIEGASPEQUIGNOT E MOLINAGOMES D LEPASLIER D CHUMAKOV I MUNNICH A KAPLAN J
Citation: Jm. Rozet et al., STRUCTURE AND PHYSICAL MAPPING OF DR1, A TATA-BINDING PROTEIN-ASSOCIATED PHOSPHOPROTEIN GENE, TO CHROMOSOME 1P22.1 AND ITS EXCLUSION IN STARGARDT DISEASE (STGD), Genomics, 36(3), 1996, pp. 554-556
FISH-MAPPED CEPH YACS SPANNING 0 TO 46 CM ON HUMAN-CHROMOSOME-6
Authors: BRAYWARD P BOWLUS C CHOI BJ LEPASLIER D WEISSENBACH J GRUEN JR
Citation: P. Brayward et al., FISH-MAPPED CEPH YACS SPANNING 0 TO 46 CM ON HUMAN-CHROMOSOME-6, Genomics, 36(1), 1996, pp. 104-111
PHYSICAL MAPPING AND GENOMIC STRUCTURE OF THE HUMAN TNFR2 GENE
Authors: BELTINGER CP WHITE PS MARIS JM SULMAN EP JENSEN SJ LEPASLIER D STALLARD BJ GOEDDEL DV DESAUVAGE FJ BRODEUR GM
Citation: Cp. Beltinger et al., PHYSICAL MAPPING AND GENOMIC STRUCTURE OF THE HUMAN TNFR2 GENE, Genomics, 35(1), 1996, pp. 94-100
GENETIC AND PHYSICAL MAPPING AT THE LIMB-GIRDLE MUSCULAR-DYSTROPHY LOCUS (LCMD2B) ON CHROMOSOME 2P
Authors: BASHIR R KEERS S STRACHAN T PASSOSBUENO R ZATZ M WEISSENBACH J LEPASLIER D MEISLER M BUSHBY K
Citation: R. Bashir et al., GENETIC AND PHYSICAL MAPPING AT THE LIMB-GIRDLE MUSCULAR-DYSTROPHY LOCUS (LCMD2B) ON CHROMOSOME 2P, Genomics, 33(1), 1996, pp. 46-52
INTEGRATED MAP OF THE CHROMOSOME 8P12-P21 REGION, A REGION INVOLVED IN HUMAN CANCERS AND WERNER SYNDROME
Authors: IMBERT A CHAFFANET M ESSIOUX L NOGUCHI T ADELAIDE J KERANGUEVEN F LEPASLIER D BONAITIPELLIE C SOBOL H BIRNBAUM D PEBUSQUE MJ
Citation: A. Imbert et al., INTEGRATED MAP OF THE CHROMOSOME 8P12-P21 REGION, A REGION INVOLVED IN HUMAN CANCERS AND WERNER SYNDROME, Genomics, 32(1), 1996, pp. 29-38
REFINED CHROMOSOMAL LOCALIZATION OF THE HUMAN THROMBOPOIETIN GENE TO 3Q27-Q28 AND EXCLUSION AS THE RESPONSIBLE GENE FOR THROMBOCYTOSIS IN PATIENTS WITH REARRANGEMENTS OF 3Q21 AND 3Q26
Authors: SCHNITTGER S DESAUVAGE FJ LEPASLIER D FONATSCH C
Citation: S. Schnittger et al., REFINED CHROMOSOMAL LOCALIZATION OF THE HUMAN THROMBOPOIETIN GENE TO 3Q27-Q28 AND EXCLUSION AS THE RESPONSIBLE GENE FOR THROMBOCYTOSIS IN PATIENTS WITH REARRANGEMENTS OF 3Q21 AND 3Q26, Leukemia, 10(12), 1996, pp. 1891-1896
MOLECULAR ANALYSIS OF THE GENOMIC STRUCTURE OF THE HUMAN Y-CHROMOSOMEIN THE EUCHROMATIC PART OF ITS LONG ARM (YQ11)
Authors: KIRSCH S KEIL R EDELMANN A HENEGARIU O HIRSCHMANN P LEPASLIER D VOGT PH
Citation: S. Kirsch et al., MOLECULAR ANALYSIS OF THE GENOMIC STRUCTURE OF THE HUMAN Y-CHROMOSOMEIN THE EUCHROMATIC PART OF ITS LONG ARM (YQ11), Cytogenetics and cell genetics, 75(2-3), 1996, pp. 197-206
TOWARD AN INTEGRATED MAP OF 1P35-36
Authors: WHITE P SULMAN E JENSEN S BELTINGER C MARIS J KYEMBA S HUSSUSSIAN C SHEHAN M DRACOPOLI N WEITH A LEPASLIER D BRODEUR G
Citation: P. White et al., TOWARD AN INTEGRATED MAP OF 1P35-36, Cytogenetics and cell genetics, 72(2-3), 1996, pp. 153-154
A 3.1-MB YAC CONTIG WITHIN THE WERNER-SYNDROME REGION, ON THE SHORT ARM OF HUMAN-CHROMOSOME-8
Authors: CHAFFANET M IMBERT A ADELAIDE J LEPASLIER D WAGNER MJ WELLS DE BIRNBAUM D PEBUSQUE MJ
Citation: M. Chaffanet et al., A 3.1-MB YAC CONTIG WITHIN THE WERNER-SYNDROME REGION, ON THE SHORT ARM OF HUMAN-CHROMOSOME-8, Cytogenetics and cell genetics, 72(1), 1996, pp. 63-68
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