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Results: 1-25 | 26-50 | 51-75
Results: 1-25/75
TARGETED DISRUPTION OF THE MOUSE CASPASE-8 GENE ABLATES CELL-DEATH INDUCTION BY THE TNF RECEPTORS, FAS APO1, AND DR3 AND IS LETHAL PRENATALLY/
Authors: VARFOLOMEEV EE SCHUCHMANN M LURIA V CHIANNILKULCHAI N BECKMANN JS METT IL REBRIKOV D BRODIANSKI VM KEMPER OC KOLLET O LAPIDOT T SOFFER D SOBE T AVRAHAM KB GONCHAROV T HOLTMANN H LONAI P WALLACH D
Citation: Ee. Varfolomeev et al., TARGETED DISRUPTION OF THE MOUSE CASPASE-8 GENE ABLATES CELL-DEATH INDUCTION BY THE TNF RECEPTORS, FAS APO1, AND DR3 AND IS LETHAL PRENATALLY/, Immunity (Cambridge, Mass.), 9(2), 1998, pp. 267-276
A GENE-RELATED TO CAENORHABDITIS-ELEGANS SPERMATOGENESIS FACTOR FER-1IS MUTATED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2B
Authors: BASHIR R BRITTON S STRACHAN T KEERS S VAFIADAKI E LAKO M RICHARD I MARCHAND S BOURG N ARGOV Z SADEH M MAHJNEH I MARCONI G PASSOSBUENO MR MOREIRA ED ZATZ M BECKMANN JS BUSHBY K
Citation: R. Bashir et al., A GENE-RELATED TO CAENORHABDITIS-ELEGANS SPERMATOGENESIS FACTOR FER-1IS MUTATED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2B, Nature genetics, 20(1), 1998, pp. 37-42
BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE
Authors: DUCLOS F BROUX O BOURG N STRAUB V FELDMAN GL SUNADA Y LIM LE PICCOLO F CUTSHALL S GARY F QUETIER F KAPLAN JC JACKSON CE BECKMANN JS CAMPBELL KP
Citation: F. Duclos et al., BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE, Neuromuscular disorders, 8(1), 1998, pp. 30-38
EXPRESSION OF GENES (CAPN3, SGCA, SGCB, AND TTN) INVOLVED IN PROGRESSIVE MUSCULAR-DYSTROPHIES DURING EARLY HUMAN-DEVELOPMENT
Authors: FOUGEROUSSE F DURAND M SUEL L POURQUIE O DELEZOIDE AL ROMERO NB ABITBOL M BECKMANN JS
Citation: F. Fougerousse et al., EXPRESSION OF GENES (CAPN3, SGCA, SGCB, AND TTN) INVOLVED IN PROGRESSIVE MUSCULAR-DYSTROPHIES DURING EARLY HUMAN-DEVELOPMENT, Genomics, 48(2), 1998, pp. 145-156
PSEUDOMETABOLIC EXPRESSION AND PHENOTYPIC VARIABILITY OF CALPAIN DEFICIENCY IN 2 SIBLINGS
Authors: PENISSONBESNIER I RICHARD I DUBAS F BECKMANN JS FARDEAU M
Citation: I. Penissonbesnier et al., PSEUDOMETABOLIC EXPRESSION AND PHENOTYPIC VARIABILITY OF CALPAIN DEFICIENCY IN 2 SIBLINGS, Muscle & nerve, 21(8), 1998, pp. 1078-1080
CLINICAL, PATHOLOGICAL, AND GENETIC FEATURES OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A WITH NEW CALPAIN-3 GENE-MUTATIONS IN 7 PATIENTS FROM3 JAPANESE FAMILIES
Authors: KAWAI H AKAIKE M KUNISHIGE M INUI T ADACHI K KIMURA C KAWAJIRI M NISHIDA Y ENDO I KASHIWAGI S NISHINO H FUJIWARA T OKUNO S ROUDAUT C RICHARD I BECKMANN JS MIYOSHI K MATSUMOTO T
Citation: H. Kawai et al., CLINICAL, PATHOLOGICAL, AND GENETIC FEATURES OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A WITH NEW CALPAIN-3 GENE-MUTATIONS IN 7 PATIENTS FROM3 JAPANESE FAMILIES, Muscle & nerve, 21(11), 1998, pp. 1493-1501
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
FUNCTIONAL DEFECTS OF A MUSCLE-SPECIFIC CALPAIN, P94, CAUSED BY MUTATIONS ASSOCIATED WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A
Authors: ONO Y SHIMADA H SORIMACHI H RICHARD I SAIDO TC BECKMANN JS ISHIURA S SUZUKI K
Citation: Y. Ono et al., FUNCTIONAL DEFECTS OF A MUSCLE-SPECIFIC CALPAIN, P94, CAUSED BY MUTATIONS ASSOCIATED WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A, The Journal of biological chemistry, 273(27), 1998, pp. 17073-17078
CARDIAC MYOSIN BINDING-PROTEIN-C GENE IS SPECIFICALLY EXPRESSED IN HEART DURING MURINE AND HUMAN-DEVELOPMENT
Authors: FOUGEROUSSE F DELEOZIDE AL FISZMAN MY SCHWARTZ K BECKMANN JS CARRIER L
Citation: F. Fougerousse et al., CARDIAC MYOSIN BINDING-PROTEIN-C GENE IS SPECIFICALLY EXPRESSED IN HEART DURING MURINE AND HUMAN-DEVELOPMENT, Circulation research, 82(1), 1998, pp. 130-133
LIMB-GIRDLE MUSCULAR-DYSTROPHY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN)
Authors: URTASUN M SAENZ A ROUDAUT C POZA JJ URTIZBEREA JA COBO AM RICHARD I BRAGADO FG LETURCQ F KAPLAN JC MASSO JFM BECKMANN JS DEMUNAIN AL
Citation: M. Urtasun et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN), Brain (Print), 121, 1998, pp. 1735-1747
CHARACTERIZATION OF MONOCLONAL-ANTIBODIES TO CALPAIN-3 AND PROTEIN EXPRESSION IN MUSCLE FROM PATIENTS WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A
Authors: ANDERSON LVB DAVISON K MOSS JA RICHARD I FARDEAU M TOME FMS HUBNER C LASA A COLOMER J BECKMANN JS
Citation: Lvb. Anderson et al., CHARACTERIZATION OF MONOCLONAL-ANTIBODIES TO CALPAIN-3 AND PROTEIN EXPRESSION IN MUSCLE FROM PATIENTS WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A, The American journal of pathology, 153(4), 1998, pp. 1169-1179
A NEW DIMENSION FOR THE HUMAN GENOME PROJECT - TOWARDS COMPREHENSIVE EXPRESSION MAPS
Authors: STRACHAN T ABITBOL M DAVIDSON D BECKMANN JS
Citation: T. Strachan et al., A NEW DIMENSION FOR THE HUMAN GENOME PROJECT - TOWARDS COMPREHENSIVE EXPRESSION MAPS, Nature genetics, 16(2), 1997, pp. 126-132
A SUSCEPTIBILITY LOCUS FOR EARLY-ONSET NON-INSULIN-DEPENDENT (TYPE-2)DIABETES-MELLITUS MAPS TO CHROMOSOME 20Q, PROXIMAL TO THE PHOSPHOENOLPYRUVATE CARBOXYKINASE GENE
Authors: ZOUALI H HANI EH PHILIPPI A VIONNET N BECKMANN JS DEMENAIS F FROGUEL P
Citation: H. Zouali et al., A SUSCEPTIBILITY LOCUS FOR EARLY-ONSET NON-INSULIN-DEPENDENT (TYPE-2)DIABETES-MELLITUS MAPS TO CHROMOSOME 20Q, PROXIMAL TO THE PHOSPHOENOLPYRUVATE CARBOXYKINASE GENE, Human molecular genetics, 6(9), 1997, pp. 1401-1408
A BIOCHEMICAL, GENETIC, AND CLINICAL SURVEY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES IN TURKEY
Authors: DINCER P LETURCQ F RICHARD I PICCOLO F YALNIZOGLU D DETOMA C AKCOREN Z BROUX O DEBURGRAVE N BRENGUIER L ROUDAUT C URTIZBEREA JA JUNG D TAN E JEANPIERRE M CAMPBELL KP KAPLAN JC BECKMANN JS TOPALOGLU H
Citation: P. Dincer et al., A BIOCHEMICAL, GENETIC, AND CLINICAL SURVEY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES IN TURKEY, Annals of neurology, 42(2), 1997, pp. 222-229
CALPAIN-3 DEFICIENCY CAUSES A MILD MUSCULAR-DYSTROPHY IN CHILDHOOD
Authors: TOPALOGLU H DINCER P RICHARD I AKCOREN Z ALEHAN D OZME S CAGLAR M KARADUMAN A URTIZBEREA JA BECKMANN JS
Citation: H. Topaloglu et al., CALPAIN-3 DEFICIENCY CAUSES A MILD MUSCULAR-DYSTROPHY IN CHILDHOOD, Neuropediatrics, 28(4), 1997, pp. 212-216
DYNAMIC MOLECULAR COMBING - STRETCHING THE WHOLE HUMAN GENOME FOR HIGH-RESOLUTION STUDIES
Authors: MICHALET X EKONG R FOUGEROUSSE F ROUSSEAUX S SCHURRA C HORNIGOLD N VANSLEGTENHORST M WOLFE J POVEY S BECKMANN JS BENSIMON A
Citation: X. Michalet et al., DYNAMIC MOLECULAR COMBING - STRETCHING THE WHOLE HUMAN GENOME FOR HIGH-RESOLUTION STUDIES, Science, 277(5331), 1997, pp. 1518-1523
CHROMOSOME 15-LINKED LIMB-GIRDLE MUSCULAR-DYSTROPHY - COMPARISON OF THE CLINICAL PHENOTYPES IN REUNION ISLAND AND FRENCH METROPOLITAN COMMUNITIES
Authors: FARDEAU M EYMARD B MIGNARD C TOME FMS RICHARD I BECKMANN JS
Citation: M. Fardeau et al., CHROMOSOME 15-LINKED LIMB-GIRDLE MUSCULAR-DYSTROPHY - COMPARISON OF THE CLINICAL PHENOTYPES IN REUNION ISLAND AND FRENCH METROPOLITAN COMMUNITIES, Neurology, 48(3), 1997, pp. 21004-21004
ORIENTATION OF THE CAPN3 GENE BY FLUORESCENT HYBRIDIZATION ON COMBED GENOMIC DNA OF YEAST (YAC), HUMAN AND MOUSE
Authors: MICHALET X FOUGEROUSSE F SCHURRA C BECKMANN JS BENSIMON A
Citation: X. Michalet et al., ORIENTATION OF THE CAPN3 GENE BY FLUORESCENT HYBRIDIZATION ON COMBED GENOMIC DNA OF YEAST (YAC), HUMAN AND MOUSE, American journal of human genetics, 61(4), 1997, pp. 292-292
LIMB-GIRDLE MUSCULAR-DYSTROPHY WITH CALPAIN DEFICIENCY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN)
Authors: URTIZBEREA JA URTASUN M RICHARD I SAENZ A POZA JJ COBO AM DEMUNAIN L BECKMANN JS
Citation: Ja. Urtizberea et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY WITH CALPAIN DEFICIENCY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN), American journal of human genetics, 61(4), 1997, pp. 1240-1240
MULTIPLE INDEPENDENT MOLECULAR ETIOLOGY FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A PATIENTS FROM VARIOUS GEOGRAPHICAL ORIGINS
Authors: RICHARD I BRENGUIER L DINCER P ROUDAUT C BADY B BURGUNDER JM CHEMALY R GARCIA CA HALABY G JACKSON CE KURNIT DM LEFRANC G LEGUM C LOISELET J MERLINI L NIVELONCHEVALLIER A OLLAGNONROMAN E RESTAGNO G TOPALOGLU H BECKMANN JS
Citation: I. Richard et al., MULTIPLE INDEPENDENT MOLECULAR ETIOLOGY FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A PATIENTS FROM VARIOUS GEOGRAPHICAL ORIGINS, American journal of human genetics, 60(5), 1997, pp. 1128-1138
HIGHLY CONSERVED STRUCTURE IN THE PROMOTER REGION OF THE GENE FOR MUSCLE-SPECIFIC CALPAIN, P94
Authors: SORIMACHI H FORSBERG NE LEE HJ JOENG SY RICHARD I BECKMANN JS ISHIURA S SUZUKI K
Citation: H. Sorimachi et al., HIGHLY CONSERVED STRUCTURE IN THE PROMOTER REGION OF THE GENE FOR MUSCLE-SPECIFIC CALPAIN, P94, Biological chemistry, 377(12), 1996, pp. 859-864
ADVANCES IN THE MOLECULAR-GENETICS OF THE LIMB-GIRDLE TYPE OF AUTOSOMAL RECESSIVE PROGRESSIVE MUSCULAR-DYSTROPHY
Authors: BECKMANN JS BUSHBY KMD
Citation: Js. Beckmann et Kmd. Bushby, ADVANCES IN THE MOLECULAR-GENETICS OF THE LIMB-GIRDLE TYPE OF AUTOSOMAL RECESSIVE PROGRESSIVE MUSCULAR-DYSTROPHY, Current opinion in neurology, 9(5), 1996, pp. 389-393
GENETIC-STUDIES AND MOLECULAR-STRUCTURES - THE DYSTROPHIN-ASSOCIATED COMPLEX
Authors: BECKMANN JS
Citation: Js. Beckmann, GENETIC-STUDIES AND MOLECULAR-STRUCTURES - THE DYSTROPHIN-ASSOCIATED COMPLEX, Human molecular genetics, 5(7), 1996, pp. 865-867
A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE OF GYPSIES POSSIBLY PREDATING THEIR MIGRATION OUT OF INDIA
Authors: PICCOLO F JEANPIERRE M LETURCQ F DODE C AZIBI K TOUTAIN A MERLINI L JARRE L NAVARRO C KRISHNAMOORTHY R TOME FMS URTIZBEREA JA BECKMANN JS CAMPBELL KP KAPLAN JC
Citation: F. Piccolo et al., A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE OF GYPSIES POSSIBLY PREDATING THEIR MIGRATION OUT OF INDIA, Human molecular genetics, 5(12), 1996, pp. 2019-2022
CHROMOSOME 15-LINKED LIMB-GIRDLE MUSCULAR-DYSTROPHY - CLINICAL PHENOTYPES IN REUNION ISLAND AND FRENCH METROPOLITAN COMMUNITIES
Authors: FARDEAU M EYMARD B MIGNARD C TOME FMS RICHARD I BECKMANN JS
Citation: M. Fardeau et al., CHROMOSOME 15-LINKED LIMB-GIRDLE MUSCULAR-DYSTROPHY - CLINICAL PHENOTYPES IN REUNION ISLAND AND FRENCH METROPOLITAN COMMUNITIES, Neuromuscular disorders, 6(6), 1996, pp. 447-453
Risultati: 1-25 | 26-50 | 51-75