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Results: 1-25/339
THE HUMAN GENOME PROJECT - FROM MAPPING TO SEQUENCING
Authors: WEISSENBACH J
Citation: J. Weissenbach, THE HUMAN GENOME PROJECT - FROM MAPPING TO SEQUENCING, CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 36(8), 1998, pp. 511-514
A SENSORINEURAL PROGRESSIVE AUTOSOMAL RECESSIVE FORM OF ISOLATED DEAFNESS, DFNB13, MAPS TO CHROMOSOME 7Q34-Q36
Authors: MUSTAPHA M CHARDENOUX S NIEDER A SALEM N WEISSENBACH J ELZIR E LOISELET J PETIT C
Citation: M. Mustapha et al., A SENSORINEURAL PROGRESSIVE AUTOSOMAL RECESSIVE FORM OF ISOLATED DEAFNESS, DFNB13, MAPS TO CHROMOSOME 7Q34-Q36, European journal of human genetics, 6(3), 1998, pp. 245-250
NON-FOUNDER MUTATIONS IN THE MEFV GENE ESTABLISH THIS GENE AS THE CAUSE OF FAMILIAL MEDITERRANEAN FEVER (FMF)
Authors: BERNOT A DASILVA C PETIT JL CRUAUD C CALOUSTIAN C CASTET V AHMEDARAB M DROSS C DUPONT M CATTAN D SMAOUI N DODE C PECHEUX C NEDELEC B MEDAXIAN J ROZENBAUM M ROSNER I DELPECH M GRATEAU G DEMAILLE J WEISSENBACH J TOUITOU I
Citation: A. Bernot et al., NON-FOUNDER MUTATIONS IN THE MEFV GENE ESTABLISH THIS GENE AS THE CAUSE OF FAMILIAL MEDITERRANEAN FEVER (FMF), Human molecular genetics (Print), 7(8), 1998, pp. 1317-1325
IDENTIFICATION AND MAPPING OF 26 HUMAN TESTIS MESSENGER-RNAS CONTAINING CAG CTG REPEATS/
Authors: PAWLAK A CHIANNIKULCHAI N ANSORGE W BULLE F WEISSENBACH J GYAPAY G GUELLAEN G
Citation: A. Pawlak et al., IDENTIFICATION AND MAPPING OF 26 HUMAN TESTIS MESSENGER-RNAS CONTAINING CAG CTG REPEATS/, Mammalian genome, 9(9), 1998, pp. 745-748
A TRANSCRIPTIONAL MAP OF THE FMF REGION
Authors: BERNOT A HEILIG R CLEPET C SMAOUI N DASILVA C PETIT JL DEVAUD C CHIANNILKULCHAI N FIZAMES C SAMSON D CRUAUD C CALOUSTIAN C GYAPAY G DELPECH M WEISSENBACH J
Citation: A. Bernot et al., A TRANSCRIPTIONAL MAP OF THE FMF REGION, Genomics, 50(2), 1998, pp. 147-160
CAG CTG AND CGG/GCC REPEATS IN HUMAN BRAIN REFERENCE CDNAS - OUTCOME IN SEARCHING FOR NEW DYNAMIC MUTATIONS/
Authors: ALBANESE V HOLBERT S SAADA C MEIEREWERT S LEBRE AS MORINIERE S BOUGUELERET L LEGALL I WEISSENBACH J LENNON G LEHRACH H COHEN D CANN HM NERI C
Citation: V. Albanese et al., CAG CTG AND CGG/GCC REPEATS IN HUMAN BRAIN REFERENCE CDNAS - OUTCOME IN SEARCHING FOR NEW DYNAMIC MUTATIONS/, Genomics, 47(3), 1998, pp. 414-418
EVIDENCE OF CHROMOSOMAL INVERSION USING FLUORESCENCE IN-SITU HYBRIDIZATION TO STRETCHED DNA
Authors: SALOMONNGUYEN F LECONIATBUSSON M HEILIG R CAMPION D WEISSENBACH J BERGER R
Citation: F. Salomonnguyen et al., EVIDENCE OF CHROMOSOMAL INVERSION USING FLUORESCENCE IN-SITU HYBRIDIZATION TO STRETCHED DNA, Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie, 321(6), 1998, pp. 447-452
GENETIC-LINKAGE OF PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA TO A 3-CM INTERVAL OF CHROMOSOME 6Q22
Authors: FISCHER J URTIZBEREA JA PAVEK S VANDIEDONCK C BRULS T SAKER S ALKATIP Y PRUDHOMME JF WEISSENBACH J
Citation: J. Fischer et al., GENETIC-LINKAGE OF PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA TO A 3-CM INTERVAL OF CHROMOSOME 6Q22, Human genetics, 103(1), 1998, pp. 60-64
LINKAGE BETWEEN ATOPY AND THE IGE HIGH-AFFINITY RECEPTOR GENE AT 11Q13 IN ATOPIC-DERMATITIS FAMILIES
Authors: FOLSTERHOLST R MOISES HW YANG L FRITSCH W WEISSENBACH J CHRISTOPHERS E
Citation: R. Folsterholst et al., LINKAGE BETWEEN ATOPY AND THE IGE HIGH-AFFINITY RECEPTOR GENE AT 11Q13 IN ATOPIC-DERMATITIS FAMILIES, Human genetics, 102(2), 1998, pp. 236-239
HBV RELATED INSERTIONAL MUTAGENESIS LEADS TO HYPEREXPRESSION OF A HBV-X SERCA-1 HYBRID PROTEIN IN A HUMAN HEPATOCELLULAR-CARCINOMA
Authors: CHAMI M SAIGO K GOZUACIK D POUSSIN K FALSON P TORCHARD D CLEPET C GYAPAY G CAUDRON B URASHIMA T KEW M ISONO K LEMARIE M BECKMAN J WEISSENBACH J BRECHOT C PATERLINI P
Citation: M. Chami et al., HBV RELATED INSERTIONAL MUTAGENESIS LEADS TO HYPEREXPRESSION OF A HBV-X SERCA-1 HYBRID PROTEIN IN A HUMAN HEPATOCELLULAR-CARCINOMA, Hepatology, 28(4), 1998, pp. 1278-1278
A PHYSICAL MAP OF 30,000 HUMAN GENES
Authors: DELOUKAS P SCHULER GD GYAPAY G BEASLEY EM SODERLUND C RODRIGUEZTOME P HUI L MATISE TC MCKUSICK KB BECKMANN JS BENTOLILA S BIHOREAU MT BIRREN BB BROWNE J BUTLER A CASTLE AB CHIANNILKULCHAI N CLEE C DAY PJR DEHEJIA A DIBLING T DROUOT N DUPRAT S FIZAMES C FOX S GELLING S GREEN L HARRISON P HOCKING R HOLLOWAY E HUNT S KEIL S LIJNZAAD P LOUISDITSULLY C MA J MENDIS A MILLER J MORISSETTE J MUSELET D NUSBAUM HC PECK A ROZEN S SIMON D SLONIM DK STAPLES R STEIN LD STEWART EA SUCHARD MA THANGARAJAH T VEGACZARNY N WEBBER C WU X HUDSON J AUFFRAY C NOMURA N SIKELA JM POLYMEROPOULOS MH JAMES MR LANDER ES HUDSON TJ MYERS RM COX DR WEISSENBACH J BOGUSKI MS BENTLEY DR
Citation: P. Deloukas et al., A PHYSICAL MAP OF 30,000 HUMAN GENES, Science, 282(5389), 1998, pp. 744-746
CLINICAL AND GENETIC-ANALYSIS OF 4 SWISS FAMILIES WITH THE PURE FORM OF HEREDITARY SPASTIC PARAPLEGIA
Authors: VONFELLENBERG J PATERNOTTE C PRUDHOMME JF WEISSENBACH J HAZAN J BURGUNDER JM
Citation: J. Vonfellenberg et al., CLINICAL AND GENETIC-ANALYSIS OF 4 SWISS FAMILIES WITH THE PURE FORM OF HEREDITARY SPASTIC PARAPLEGIA, Schweizerische medizinische Wochenschrift, 128(26), 1998, pp. 1043-1050
NEW SUSCEPTIBILITY LOCUS FOR RHEUMATOID-ARTHRITIS SUGGESTED BY A GENOME-WIDE LINKAGE STUDY
Authors: CORNELIS F FAURE S MARTINEZ M PRUDHOMME JF FRITZ P DIB C ALVES H BARRERA P DEVRIES N BALSA A PASCUALSALCEDO D MAENAUT K WESTHOVENS R MIGLIORINI P TRAN TH DELAYE A PRINCE N LEFEVRE C THOMAS G POIRIER M SOUBIGOU S ALIBERT O LASBLEIZ S FOUIX S BOUCHIER C LIOTE F LOSTE MN LEPAGE V CHARRON D GYAPAY G LOPESVAZ A KUNTZ D BARDIN T WEISSENBACH J
Citation: F. Cornelis et al., NEW SUSCEPTIBILITY LOCUS FOR RHEUMATOID-ARTHRITIS SUGGESTED BY A GENOME-WIDE LINKAGE STUDY, Proceedings of the National Academy of Sciences of the United Statesof America, 95(18), 1998, pp. 10746-10750
MAPPING OF A COMPLICATED FAMILIAL SPASTIC PARAPLEGIA TO LOCUS SPG4 ONCHROMOSOME 2P
Authors: HEINZLEF O PATERNOTTE C MAHIEUX F PRUDHOMME JF DIEN J MADIGAND M POUGET J WEISSENBACH J ROULLET E HAZAN J
Citation: O. Heinzlef et al., MAPPING OF A COMPLICATED FAMILIAL SPASTIC PARAPLEGIA TO LOCUS SPG4 ONCHROMOSOME 2P, Journal of Medical Genetics, 35(2), 1998, pp. 89-93
LAMELLAR ICHTHYOSIS - FURTHER NARROWING, PHYSICAL AND EXPRESSION MAPPING OF THE CHROMOSOME-2 CANDIDATE LOCUS
Authors: PARMENTIER L BOUGHDENESTAMBOULI O LAKHDAR H BLANCHETBARDON C DUBERTRET L CLEPET C WUNDERLE E PULCINI F FIZAMES C WEISSENBACH J
Citation: L. Parmentier et al., LAMELLAR ICHTHYOSIS - FURTHER NARROWING, PHYSICAL AND EXPRESSION MAPPING OF THE CHROMOSOME-2 CANDIDATE LOCUS, Journal of investigative dermatology, 110(4), 1998, pp. 620-620
HUMAN PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA-2 - GENETIC-MAPPING, IDENTIFICATION OF A VARIANT IN THE CODING SEQUENCE, AND EXCLUSION AS THE GENE RESPONSIBLE FOR LIPOATROPHIC DIABETES
Authors: VIGOUROUX C FAJAS L KHALLOUF E MEIER M GYAPAY G LASCOLS O AUWERX J WEISSENBACH J CAPEAU J MAGRE J
Citation: C. Vigouroux et al., HUMAN PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA-2 - GENETIC-MAPPING, IDENTIFICATION OF A VARIANT IN THE CODING SEQUENCE, AND EXCLUSION AS THE GENE RESPONSIBLE FOR LIPOATROPHIC DIABETES, Diabetes, 47(3), 1998, pp. 490-492
HUMAN HORMONE-SENSITIVE LIPASE - GENETIC-MAPPING, IDENTIFICATION OF ANEW DINUCLEOTIDE REPEAT, AND ASSOCIATION WITH OBESITY AND NIDDM
Authors: MAGRE J LAURELL H FIZAMES C ANTOINE PJ DIB C VIGOUROUX C BOURUT C CAPEAU J WEISSENBACH J LANGIN D
Citation: J. Magre et al., HUMAN HORMONE-SENSITIVE LIPASE - GENETIC-MAPPING, IDENTIFICATION OF ANEW DINUCLEOTIDE REPEAT, AND ASSOCIATION WITH OBESITY AND NIDDM, Diabetes, 47(2), 1998, pp. 284-286
A CANDIDATE GENE FOR FAMILIAL MEDITERRANEAN FEVER
Authors: BERNOT A CLEPET C DASILVA C DEVAUD C PETIT JL CALOUSTIAN C CRUAUD C SAMSON D PULCINI F WEISSENBACH J HEILIG R NOTANICOLA C DOMINGO C ROZENBAUM M BENCHETRIT E TOPALOGLU R DEWALLE M DROSS C HADJARI P DUPONT M DEMAILLE J TOUITOU I SMAOUI N NEDELEC B MERY JP CHAABOUNI H DELPECH M GRATEAU G
Citation: A. Bernot et al., A CANDIDATE GENE FOR FAMILIAL MEDITERRANEAN FEVER, Nature genetics, 17(1), 1997, pp. 25-31
A HUMAN HOMOLOG OF THE DROSOPHILA EYES ABSENT GENE UNDERLIES BRANCHIOOTORENAL (BOR) SYNDROME AND IDENTIFIES A NOVEL GENE FAMILY
Authors: ABDELHAK S KALATZIS V HEILIG R COMPAIN S SAMSON D VINCENT C WEIL D CRUAUD C SAHLY I LEIBOVICI M BITNERGLINDZICZ M FRANCIS M LACOMBE D VIGNERON J CHARACHON R BOVEN K BEDBEDER P VANREGEMORTER N WEISSENBACH J PETIT C
Citation: S. Abdelhak et al., A HUMAN HOMOLOG OF THE DROSOPHILA EYES ABSENT GENE UNDERLIES BRANCHIOOTORENAL (BOR) SYNDROME AND IDENTIFIES A NOVEL GENE FAMILY, Nature genetics, 15(2), 1997, pp. 157-164
A PHYSICAL MAP OF HUMAN-CHROMOSOME 7 - AN INTEGRATED YAC CONTIG MAP WITH AVERAGE STS SPACING OF 79 KB
Authors: BOUFFARD GG IDOL JR BRADEN VV IYER LM CUNNINGHAM AF WEINTRAUB LA TOUCHMAN JW MOHRTIDWELL RM PELUSO DC FULTON RS UELTZEN MS WEISSENBACH J MAGNESS CL GREEN ED
Citation: Gg. Bouffard et al., A PHYSICAL MAP OF HUMAN-CHROMOSOME 7 - AN INTEGRATED YAC CONTIG MAP WITH AVERAGE STS SPACING OF 79 KB, PCR methods and applications, 7(7), 1997, pp. 673-692
IDENTIFICATION AND CHROMOSOMAL LOCALIZATION OF HUMAN GENES CONTAININGCAG CTG REPEATS EXPRESSED IN TESTIS AND BRAIN/
Authors: BULLE F CHIANNILKULCHAI N PAWLAK A WEISSENBACH J GYAPAY G GUELLAEN G
Citation: F. Bulle et al., IDENTIFICATION AND CHROMOSOMAL LOCALIZATION OF HUMAN GENES CONTAININGCAG CTG REPEATS EXPRESSED IN TESTIS AND BRAIN/, PCR methods and applications, 7(7), 1997, pp. 705-715
MAPPING OF PAPILLON-LEFEVRE-SYNDROME TO THE CHROMOSOME 11Q14 REGION
Authors: FISCHER J BLANCHETBARDON C PRUDHOMME JF PAVEK S STEIJLEN PM DUBERTRET L WEISSENBACH J
Citation: J. Fischer et al., MAPPING OF PAPILLON-LEFEVRE-SYNDROME TO THE CHROMOSOME 11Q14 REGION, European journal of human genetics, 5(3), 1997, pp. 156-160
NEPHROPATHIC CYSTINOSIS (CTNS-LSB) - CONSTRUCTION OF A YAC CONTIG COMPRISING THE REFINED CRITICAL REGION ON CHROMOSOME 17P13
Authors: PETERS U SENGER G RAHLMANN M DUCHESNE I STEC I KOHLER MR WEISSENBACH J LEAL SM KOCH HG DEUFEL T HARMS E
Citation: U. Peters et al., NEPHROPATHIC CYSTINOSIS (CTNS-LSB) - CONSTRUCTION OF A YAC CONTIG COMPRISING THE REFINED CRITICAL REGION ON CHROMOSOME 17P13, European journal of human genetics, 5(1), 1997, pp. 9-14
CLUSTERING OF MUTATIONS RESPONSIBLE FOR BRANCHIOOTORENAL (BOR) SYNDROME IN THE EYES ABSENT HOMOLOGOUS REGION (EYAHR) OF EYA1
Authors: ABDELHAK S KALATZIS V HEILIG R COMPAIN S SAMSON D VINCENT C LEVIACOBAS F CRUAUD C LEMERRER M MATHIEU M KONIG R VIGNERON J WEISSENBACH J PETIT C WEIL D
Citation: S. Abdelhak et al., CLUSTERING OF MUTATIONS RESPONSIBLE FOR BRANCHIOOTORENAL (BOR) SYNDROME IN THE EYES ABSENT HOMOLOGOUS REGION (EYAHR) OF EYA1, Human molecular genetics, 6(13), 1997, pp. 2247-2255
A NOVEL GENE THAT ENCODES A PROTEIN WITH A PUTATIVE SRC HOMOLOGY-3 DOMAIN IS A CANDIDATE GENE FOR FAMILIAL JUVENILE NEPHRONOPHTHISIS
Authors: SAUNIER S CALADO J HEILIG R SILBERMANN F BENESSY F MORIN G KONRAD M BROYER M GUBLER MC WEISSENBACH J ANTIGNAC C
Citation: S. Saunier et al., A NOVEL GENE THAT ENCODES A PROTEIN WITH A PUTATIVE SRC HOMOLOGY-3 DOMAIN IS A CANDIDATE GENE FOR FAMILIAL JUVENILE NEPHRONOPHTHISIS, Human molecular genetics, 6(13), 1997, pp. 2317-2323
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