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    1. Romero, NB; De Lonlay, P; Llense, S; Leturcq, F; Touati, G; Urtizberea, JA; Saudubray, JM; Munnich, A; Kaplan, JC; Recan, D
      Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene

      NEUROMUSCULAR DISORDERS
    2. Tremblay, C; Kaplan, JC; Hirsch, MS
      Combination antiretroviral therapy

      ANTIRETROVIRAL THERAPY
    3. Kaplan, JC; Junien, C
      Genomics and medicine: an anticipation. From Boolean Mendelian genetics tomultifactorial molecular medicine

      COMPTES RENDUS DE L ACADEMIE DES SCIENCES SERIE III-SCIENCES DE LA VIE-LIFE SCIENCES
    4. Canki-Klain, N; Recan, D; Milicic, D; Llense, S; Leturcq, F; Deburgrave, N; Kaplan, JC; Debevec, M; Zurak, N
      Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy

      CROATIAN MEDICAL JOURNAL
    5. Merlini, L; Kaplan, JC; Navarro, C; Barois, A; Bonneau, D; Brasa, J; Echenne, B; Gallano, P; Jarre, L; Jeanpierre, M; Kalaydjieva, L; Leturcq, F; Levi-Gomes, A; Toutain, A; Tournev, I; Urtizberea, A; Vallat, JM; Voit, T; Warter, JM
      Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation

      NEUROLOGY
    6. Kaplan, JC
      Introduction - Birth of a form of molecular medicine

      BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
    7. Puechal, X; Fajac, I; Bienvenu, T; Desmazes-Dufeu, N; Hubert, D; Kaplan, JC; Menkes, CJ; Dusser, DJ
      Increased frequency of cystic fibrosis Delta F508 mutation in bronchiectasis associated with rheumatoid arthritis

      EUROPEAN RESPIRATORY JOURNAL
    8. Loumi, O; Baghriche, M; Delpech, M; Kaplan, JC; Bienvenu, T
      Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families

      HUMAN HEREDITY
    9. LASA A; PICCOLO F; DEDIEGO C; JEANPIERRE M; COLOMER J; RODRIGUEZ MJ; URTIZBEREA JA; BAIGET M; KAPLAN JC; GALLANO P
      SEVERE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN SPANISH GYPSIES - FURTHER EVIDENCE FOR A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE

      European journal of human genetics
    10. CANKIKLAIN N; RECAN D; LLENSE S; BARBOT JC; LETURCQ F; DEBURGRAVE N; KAPLAN JC; DEBEVEC M; ZURAK N
      DIRECT MOLECULAR-GENETIC DIAGNOSIS AND CARRIER IDENTIFICATION IN ONE EMERY-DREIFUSS MUSCULAR-DYSTROPHY FAMILY

      European journal of human genetics
    11. SANTOS HG; SANTOS R; VASCONCELOS R; FERNANDES HC; FREITAS C; LETURCQ F; KAPLAN JC; URTIZBEREA JA
      AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES IN PATIENTS FROM MADEIRA ISLAND - A CLINICAL AND GENETIC APPROACH

      European journal of human genetics
    12. MANILAL S; RECAN D; SEWRY CA; HOELTZENBEIN M; LLENSE S; LETURCQ F; DEBURGRAVE N; BARBOT JC; MAN NT; MUNTONI F; WEHNERT M; KAPLAN JC; MORRIS GE
      MUTATIONS IN EMERY-DREIFUSS MUSCULAR-DYSTROPHY AND THEIR EFFECTS ON EMERIN PROTEIN EXPRESSION

      Human molecular genetics
    13. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    14. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    15. 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
      BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE

      Neuromuscular disorders
    16. Fajac, I; Hubert, D; Bienvenu, T; Richaud-Thiriez, B; Matran, R; Kaplan, JC; Dall'Ava-Santucci, J; Dusser, DJ
      Relationships between nasal potential difference and respiratory function in adults with cystic fibrosis

      EUROPEAN RESPIRATORY JOURNAL
    17. KAPLAN JC
      MOLECULAR-BASIS OF PROCRASTINATION - CLON ING OF A GENE FOR HELP IN DECISION-MAKING

      MS. Medecine sciences
    18. Dincer, P; Piccolo, F; Leturcq, F; Kaplan, JC; Jeanpierre, M; Topaloglu, H
      Prenatal diagnosis of limb-girdle muscular dystrophy Type 2C

      PRENATAL DIAGNOSIS
    19. MERLINI L; BAROIS A; DEMONTE A; ECHENNE B; GALLANO P; JARRE L; KALAYDJIEVA L; LEVYGOMES A; NAVARRO C; TOUTAIN A; TURNEV I; URTIZBEREA A; VALLAT JM; VOIT T; WARTER JM; KAPLAN JC
      LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C WITH C283Y MUTATION IN GYPSIES - CHARACTERIZATION OF THE CLINICAL PHENOTYPE

      Neurology
    20. 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
      LIMB-GIRDLE MUSCULAR-DYSTROPHY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN)

      Brain (Print)
    21. BIENVENU T; LEPERCQ J; ALLARD JP; HUBERT D; FRANCOUAL F; BELDJORD C; KAPLAN JC
      COMPOUND HETEROZYGOTES FOR A CF MUTATION AND THE 5T SPLICE VARIANT ASSOCIATED WITH VARIABLE PRESENTATIONS IN A FRENCH FAMILY

      Annales de genetique
    22. Steffann, J; Vidaud, D; Bousquet, S; Jullien, M; Ninot, A; Kaplan, JC; Beldjord, C; Bienvenu, T
      Novel double mutant CF allele identified in a cystic fibrosis patient withmeconium ileus.

      ANNALES DE GENETIQUE
    23. ESTIVILL X; BANCELLS C; RAMOS C; PIAZZA A; CARBONARA A; MASTELLA G; BONIZZATO A; CASTALDI G; DALCAMO E; FERRARI M; GASPARINI P; GUANTI G; LEONI GB; PIGNATTI PF; RONCHETTO P; SEIA M; TORRICELLI F; GOOSSENS M; CHEVALIERPORST F; BOZON D; SIMONBOUY B; FELDMANN D; ELION J; KAPLAN JC; FEREC C; CLAUSTRES M; CLAVEL C; PUCHELLE E; LUNARDI J; MATHIEU M; SCHEFFER H; HALLEY DJJ; VANDENOUWELAND AMW; TIJMENSEN ASLN; CASALS T; GIMENEZ FJ; RAMOS L; BENEYTO M; BENITEZ J; PALACIO A; TUMMLER B; BAUER I; MEITINGER T; CLAASS A; LINDNER M; SCHRODER E; STUHRMANN M; CASSIMAN J; CUPPENS H; COCHAUX P; PONCIN J; MESSIAN L; BARANOV VS; IVASCHENKO TE; BAKAY M; BAL J; WITT M; KANAVAKIS M; TZETIS M; ANTONIADI T; LAVINHA J; PACHECO P; DUARTE A; LOUREIRO P; KALAYDJIEVA L; ANGELICHEVA D; JORDANOVA A; SAVOV A; EIKLID K; HOLMBERG L; SCHAEDEL C; OZGUC M; GOCMEN A; ERDERN H; LIECHTIGALLATI S; NEMETI M; FEKETE G; KLAASSEN T; SCHWARZ M; SCHWARTZ M; MACEK M; MACEK M; KREBSOVA A; VAVROVA V; KEREM B; AVELIOVICH D; FERAK V; KADASI L; KAYSEROVA H; GLAVAC D; RAVNIKGLAVAC M; EFREMOV GD; CANKIKLEIN N; KERE J
      GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS

      Human mutation
    24. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    25. ROMERO NB; RECAN D; RIGAL O; LETURCQ F; LLENSE S; BARBOT JC; DEBURGRAVE N; CHEVAL MA; DENIAU F; KAPLAN JC
      A POINT MUTATION IN THE GLYCEROL KINASE GENE ASSOCIATED WITH A DELETION IN THE DYSTROPHIN GENE IN A FAMILIAL X-LINKED MUSCULAR-DYSTROPHY - NONCONTIGUOUS GENE SYNDROME INVOLVING BECKER MUSCULAR-DYSTROPHY AND GLYCEROL KINASE LOCI

      Neuromuscular disorders
    26. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    27. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    28. KAPLAN JC
      POCKET ENCYCLOPEDIA OF BIOLOGICALLY CORRE CT REPRODUCTION

      MS. Medecine sciences
    29. 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
      A BIOCHEMICAL, GENETIC, AND CLINICAL SURVEY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES IN TURKEY

      Annals of neurology
    30. EYMARD B; ROMERO NB; LETURCQ F; PICCOLO F; CARRIE A; JEANPIERRE M; COLLIN H; DEBURGRAVE N; AZIBI K; CHAOUCH M; MERLINI L; THEMARNOEL C; PENISSON I; MAYER M; TANGUY O; CAMPBELL KP; KAPLAN JC; TOME FMS; FARDEAU M
      PRIMARY ADHALINOPATHY (ALPHA-SARCOGLYCANOPATHY) - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATION IN 20 PATIENTS WITH AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY

      Neurology
    31. CARRIE A; PICCOLO F; LETURCQ F; DETOMA C; AZIBI K; BELDJORD C; VALLAT JM; MERLINI L; VOIT T; SEWRY C; URTIZBEREA JA; ROMERO N; TOME FMS; FARDEAU M; SUNADA Y; CAMPBELL KP; KAPLAN JC; JEANPIERRE M
      MUTATIONAL DIVERSITY AND HOT-SPOTS IN THE ALPHA-SARCOGLYCAN GENE IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY (LGMD2D)

      Journal of Medical Genetics
    32. QUINLIVAN RM; ROBB SA; SEWRY C; DUBOWITZ V; PICCOLO F; KAPLAN JC
      ABSENCE OF ALPHA-SARCOGLYCAN AND NOVEL MISSENSE MUTATIONS IN THE ALPHA-SARCOGLYCAN GENE IN A YOUNG BRITISH GIRL WITH MUSCULAR-DYSTROPHY

      Developmental Medicine and Child Neurology
    33. CHERTKOFF L; VISICH A; BIENVENU T; GRENOVILLE M; SEGAL E; CARNIGLIA L; KAPLAN JC; BARREIRO C
      SPECTRUM OF CFTR MUTATIONS IN ARGENTINE CYSTIC-FIBROSIS PATIENTS

      Clinical genetics
    34. BIENVENU T; ADJIMAN M; THIOUNN N; JEANPIERRE M; HUBERT D; LEPERCQ J; FRANCOUAL C; WOLF JP; IZARD V; JOUANNET P; KAPLAN JC; BELDJORD C
      MOLECULAR DIAGNOSIS OF CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS - ANALYSES OF THE CFTR GENE IN 64 FRENCH PATIENTS

      Annales de genetique
    35. VALLEIX S; NAFA K; STIELTJES N; VIEMONT M; SULTAN Y; KAPLAN JC; DELPECH M
      PREVALENCE, MALE GERM-LINE ORIGIN AND NEW PATTERNS OF INVERSIONS IN HEMOPHILIA-A

      Annales de genetique
    36. JEANPIERRE M; PICCOLO F; MARIN V; LETURCQ F; URTIZBEREA JA; KAPLAN JC
      ANCESTRAL HAPLOTYPES AS GENETIC CLOCKS

      American journal of human genetics
    37. KEYEUX G; BIENVENU T; RODAS C; GARAVITO P; SANCHEZ D; STAND I; KAPLAN JC; ARISTAZABAL G; BERNAL JE
      PARTICULAR ASPECTS OF THE MOLECULAR-BASIS OF CYSTIC-FIBROSIS IN COLOMBIA

      American journal of human genetics
    38. PICCOLO F; DETOMA C; CHIRON S; LAFORET P; URTIZBEREA JA; EYMARD B; FARDEAU M; KAPLAN JC; JEANPIERRE M
      PENETRANCE OF THE FSHD MUTATION DIFFERS ACCORDING TO THE D4Z4 REPEAT NUMBER

      American journal of human genetics
    39. BIENVENU T; BOUSQUET S; LYONNET S; KAPLAN JC; BELDJORD C
      1283-DEL-A - A NOVEL MUTATION IN EXON-8 OF THE CYSTIC-FIBROSIS GENE

      Human heredity
    40. BIENVENU T; CHERTKOFF L; BELDJORD C; SEGAL E; CARNIGLIA L; BARREIRO C; KAPLAN JC
      IDENTIFICATION OF 3 NOVEL MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE IN ARGENTINEAN CF PATIENTS

      Human mutation
    41. BIENVENU T; HUBERT D; SETBON E; DUSSER D; KAPLAN JC; BELDJORD C
      NOVEL MISSENSE MUTATION IN EXON-16 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE IDENTIFIED IN CBAVD PATIENTS

      Human mutation
    42. BIENVENU T; BELDJORD C; CHELLY J; FONKNECHTEN N; HUBERT D; DUSSER D; KAPLAN JC
      ANALYSIS OF ALTERNATIVE SPLICING PATTERNS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE USING MESSENGER-RNA DERIVED FROM LYMPHOBLASTOID-CELLS OF CYSTIC-FIBROSIS PATIENTS

      European journal of human genetics
    43. 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
      A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE OF GYPSIES POSSIBLY PREDATING THEIR MIGRATION OUT OF INDIA

      Human molecular genetics
    44. JEANPIERRE M; CARRIE A; PICCOLO F; LETURCQ F; AZIBI K; DETOMA C; BELDJORD C; MERLINI L; VOIT T; ROMERO N; SUNADA Y; TOME FMS; FARDEAU M; CAMPBELL KP; KAPLAN JC
      FROM ADHALINOPATHIES TO ALPHA-SARCOGLYCANOPATHIES - AN OVERVIEW

      Neuromuscular disorders
    45. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    46. HUBERT D; BIENVENU T; DESMAZESDUFEU N; FAJAC I; LACRONIQUE J; MATRAN R; KAPLAN JC; DUSSER DJ
      GENOTYPE-PHENOTYPE RELATIONSHIPS IN A COHORT OF ADULT CYSTIC-FIBROSISPATIENTS

      The European respiratory journal
    47. OEXLE K; HERRMANN R; DODE C; LETURCQ F; HUBNER C; KAPLAN JC; MIZUNO Y; OZAWA E; CAMPBELL KP; VOIT T
      NEUROSENSORY HEARING-LOSS IN SECONDARY ADHALINOPATHY

      Neuropediatrics
    48. EYMARD B; ROMERO NB; LETURCQ F; CARRIE A; PICCOLO F; COLLIN H; KAPLAN JC; TOME FMS; FARDEAU M; AZIBI K; CHAOUCH M; MERLINI L; PENISSON I; SEFIANI A; CAMPBELL KP
      ADHALIN-DEFICIENT MUSCULAR-DYSTROPHIES - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATIONS

      Neurology
    49. CALIENDO AM; SAVARA A; AN D; DEVORE K; KAPLAN JC; DAQUILA RT
      EFFECTS OF ZIDOVUDINE-SELECTED HUMAN-IMMUNODEFICIENCY-VIRUS TYPE-1 REVERSE-TRANSCRIPTASE AMINO-ACID SUBSTITUTIONS ON PROCESSIVE DNA-SYNTHESIS AND VIRAL REPLICATION

      Journal of virology
    50. JUNG D; LETURCQ F; SUNADA Y; DUCLOS F; TOME FMS; MOOMAW C; MERLINI L; AZIBI K; CHAOUCH M; SLAUGHTER C; FARDEAU M; KAPLAN JC; CAMPBELL KP
      ABSENCE OF GAMMA-SARCOGLYCAN (35-DAG) IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY LINKED TO CHROMOSOME 13Q12

      FEBS letters
    51. PUECHAL X; FAJAC I; BIENVENU T; DESMAZESDUFEU N; KAPLAN JC; DUSSER DJ; MENKES CJ
      RHEUMATOID-ARTHRITIS AND BRONCHIECTASIS - EVIDENCE FOR MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE

      Arthritis and rheumatism
    52. PECHEUX C; LEGALL A; KAPLAN JC; DODE C
      SEQUENCE-ANALYSIS OF THE CAG TRIPLET REPEATS REGION IN THE HUNTINGTONDISEASE GENE (IT15) IN SEVERAL MAMMALIAN-SPECIES

      Annales de genetique
    53. RUBINSZTEIN DC; LEGGO J; COLES R; ALMQVIST E; BIANCALANA V; CASSIMAN JJ; CHOTAI K; CONNARTY M; CRAUFURD D; CURTIS A; CURTIS D; DAVIDSON MJ; DIFFER AM; DODE C; DODGE A; FRONTALI M; RANEN NG; STINE OC; SHERR M; ABBOTT MH; FRANZ ML; GRAHAM CA; HARPER PS; HEDREEN JC; JACKSON A; KAPLAN JC; LOSEKOOT M; MACMILLAN JC; MORRISON P; TROTTIER Y; NOVELLETTO A; SIMPSON SA; THEILMANN J; WHITTAKER JL; FOLSTEIN SE; ROSS CA; HAYDEN MR
      PHENOTYPIC CHARACTERIZATION OF INDIVIDUALS WITH 30-40 CAG REPEATS IN THE HUNTINGTON DISEASE (HD) GENE REVEALS HD CASES WITH 36 REPEATS AND APPARENTLY NORMAL ELDERLY INDIVIDUALS WITH 36-39 REPEATS

      American journal of human genetics
    54. BIENVENU T; CARTAULT F; LESURE F; RENOUIL M; BELDJORD C; KAPLAN JC
      A SPLICING MUTATION IN INTRON 16 OF THE CYSTIC-FIBROSIS TRANSMEMBRANECONDUCTANCE REGULATOR GENE, ASSOCIATED WITH SEVERE DISEASE, IS COMMONON REUNION-ISLAND

      Human heredity
    55. PICCOLO F; ROBERDS SL; JEANPIERRE M; LETURCQ F; AZIBI K; BELDJORD C; CARRIE A; RECAN D; CHAOUCH M; REGHIS A; ELKERCH F; SEFIANI A; VOIT T; MERLINI L; COLLIN H; EYMARD B; BECKMANN JS; ROMERO NB; TOME FMS; FARDEAU M; CAMPBELL KP; KAPLAN JC
      PRIMARY ADHALINOPATHY - A COMMON-CAUSE OF AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY OF VARIABLE SEVERITY

      Nature genetics
    56. BIENVENU T; CAZENEUVE C; KAPLAN JC; BELDJORD C
      MUTATION HETEROGENEITY OF CYSTIC-FIBROSIS IN FRANCE - SCREENING BY DENATURING GRADIENT GEL-ELECTROPHORESIS USING PSORALEN-MODIFIED OLIGONUCLEOTIDE

      Human mutation
    57. NAFA K; MERIANE F; CHELLALI T; BENABADJI M; REGHIS A; VIEMONT M; KAPLAN JC; DELPECH M
      SCREENING FOR MUTATIONS IN FACTOR-VIII GENE USING THE SINGLE-STRAND CONFORMATION POLYMORPHISM

      Human mutation
    58. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    59. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    60. KAPLAN JC
      MOLECULAR-GENETICS OF MYOPATHIES - RECENT ADVANCES

      Archives de pediatrie
    61. GUILFORD P; DODE C; CROZET F; BLANCHARD S; CHAIB H; LEVILLIERS J; LEVIACOBAS F; WEIL D; WEISSENBACH J; COHEN D; LEPASLIER D; KAPLAN JC; PETIT C
      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)

      Genomics
    62. BIENVENU T; LACRONIQUE V; RAYMONDJEAN M; CAZENEUVE C; HUBERT D; KAPLAN JC; BELDJORD C
      3 NOVEL SEQUENCE VARIATIONS IN THE 5' UPSTREAM REGION OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE - 2 POLYMORPHISMS AND ONE PUTATIVE MOLECULAR DEFECT

      Human genetics
    63. SEBILLON P; BELDJORD C; KAPLAN JC; BRODY E; MARIE J
      A T-TO-G-MUTATION IN THE POLYPYRIMIDINE TRACT OF THE 2ND INTRON OF THE HUMAN BETA-GLOBIN GENE REDUCES IN-VITRO SPLICING EFFICIENCY - EVIDENCE FOR AN INCREASED HNRNP-C INTERACTION

      Nucleic acids research
    64. MARGALITH M; DAQUILA RT; MANION DJ; BASGOZ N; BECHTEL LJ; SMITH BR; KAPLAN JC; HIRSCH MS
      HIV-1 DNA IN FIBROBLAST-CULTURES INFECTED WITH URINE FROM HIV-SEROPOSITIVE CYTOMEGALOVIRUS (CMV) EXCRETORS

      Archives of virology
    65. YAMADA H; TOME FMS; HIGUCHI I; KAWAI H; AZIBI K; CHAOUCH M; ROBERDS SL; TANAKA T; FUJITA S; MITSUI T; FUKUNAGA H; MIYOSHI K; OSAME M; FARDEAU M; KAPLAN JC; SHIMIZU T; CAMPBELL KP; MATSUMURA K
      LAMININ ABNORMALITY IN SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY

      Laboratory investigation
    66. DURR A; DODE C; HAHN V; PECHEUX C; PILLON B; FEINGOLD J; KAPLAN JC; AGID Y; BRICE A
      DIAGNOSIS OF SPORADIC HUNTINGTONS-DISEASE

      Journal of the neurological sciences
    67. PECHEUX C; MOURET JF; DURR A; AGID Y; FEINGOLD J; BRICE A; DODE C; KAPLAN JC
      SEQUENCE-ANALYSIS OF THE CCG POLYMORPHIC REGION ADJACENT TO THE CAG TRIPLET REPEAT OF THE HD GENE IN NORMAL AND HD CHROMOSOMES

      Journal of Medical Genetics
    68. BIENVENU T; BELDJORD C; KAPLAN JC; HUBERT D; DUSSER D
      SEVERE CYSTIC-FIBROSIS PHENOTYPE IN A DELTA-F508 3272-26A-]G COMPOUNDHETEROZYGOTE

      Journal of Medical Genetics
    69. VIEIRA LM; KAPLAN JC; KAHN A; LEROUX A
      4 NEW MUTATIONS IN THE NADH-CYTOCHROME B5 REDUCTASE GENE FROM PATIENTS WITH RECESSIVE CONGENITAL METHEMOGLOBINEMIA TYPE-II

      Blood
    70. CAZENEUVE C; BELDJORD C; KAPLAN JC; BIENVENU T
      DIAGNOSTIC USEFULNESS OF THE POLYMORPHISM OF THE GT DINUCLEOTIDE AND THE POLYTHYMIDINE TRACT IN INTRON-8 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE

      Annales de genetique
    71. KAPLAN JC; CARRIE A; PICCOLO F; SUNADA Y; LETURCQ F; AZIBI K; ELKERCH F; BELDJORD C; MERLINI L; VOIT T; ROMERO N; TOME FMS; FARDEAU M; CAMPBELL KP; JEANPIERRE M
      ALLELIC AND PHENOTYPIC HETEROGENEITY OF PRIMARY ADHALINOPATHIES

      American journal of human genetics
    72. JEANPIERRE M; BECKMANN JS; AZIBI K; ELKERCH F; LETURCQ F; RECAN D; MERLINI L; TOUTAIN A; BONNEAU D; TOME FMS; FARDEAU M; KAPLAN JC; DODE C
      REFINED MAPPING OF THE LGMD2C LOCUS TO A 1-CENTIMORGAN INTERVAL

      American journal of human genetics
    73. SUNADA Y; PICCOLO F; JUNG D; DUCLOS F; LIM LE; KAPLAN JC; CAMPBELL KP
      CHARACTERIZATION OF HETEROGENEOUS ADHALIN-DEFICIENT LIMB-GIRDLE MUSCULAR IN THE UNITED-STATES

      American journal of human genetics
    74. BIENVENU T; CAZENEUVE C; FAJAC I; DUSSER D; HUBERT D; KAPLAN JC; BELDJORD C
      IDENTIFICATION OF A NOVEL MISSENSE MUTATION G239R IN EXON 6A OF THE CFTR GENE

      Human heredity
    75. BIENVENU T; PETITPRETZ P; BELDJORD C; KAPLAN JC
      A MISSENSE MUTATION (F87L) IN EXON-3 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE

      Human mutation
    76. BIENVENU T; LENOIR G; FONKNECHTEN N; DESCLAUXARRAMOND F; KAPLAN JC; BELDJORD C
      IDENTIFICATION OF A NEW FRAMESHIFT MUTATION (3724 DELG) IN EXON-19 OFTHE CFTR GENE

      Human mutation
    77. BIENVENU T; CAZENEUVE C; BELDJORD C; DUSSER D; KAPLAN JC; HUBERT D
      A NEW MISSENSE MUTATION (G27E) IN EXON-2 OF THE CFTR GENE IN A MILDLYAFFECTED CYSTIC-FIBROSIS PATIENT

      Human molecular genetics
    78. ALLAMAND V; LETURCQ F; PICCOLO F; JEANPIERRE M; AZIBI K; ROBERDS SL; LIM LE; CAMPBELL KP; BECKMANN JS; KAPLAN JC
      ADHALIN GENE POLYMORPHISM

      Human molecular genetics
    79. MATSUMURA K; TOME FMS; COLLIN H; LETURCQ F; JEANPIERRE M; KAPLAN JC; FARDEAU M; CAMPBELL KP
      EXPRESSION OF DYSTROPHIN-ASSOCIATED PROTEINS TN DYSTROPHIN-POSITIVE MUSCLE-FIBERS (REVERTANTS) IN DUCHENNE MUSCULAR-DYSTROPHY

      Neuromuscular disorders
    80. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    81. KAPLAN JC; GERHARDT RA
      EFFECT OF TRACE CARBON ON THE UV-INDUCED BEHAVIOR OF ALUMINUM NITRIDECERAMICS

      Journal of materials research
    82. ROMERO NB; TOME FMS; LETURCQ F; ELKERCH F; AZIBI K; BACHNER L; ANDERSON RD; ROBERDS SL; CAMPBELL KP; FARDEAU M; KAPLAN JC
      GENETIC-HETEROGENEITY OF SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH ADHALIN (50 KDA DYSTROPHY-ASSOCIATED GLYCOPROTEIN) DEFICIENCY

      Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie
    83. SOULEZ M; GILGENKRANTZ H; KAPLAN JC; KAHN A
      INTERPLAY BETWEEN A NEGATIVE ELEMENT AND A CARG BOX IN THE HUMAN DYSTROPHIN MUSCULAR PROMOTER

      Journal of cellular biochemistry
    84. RAGOT T; STRATFORDPERRICAUDET LD; VINCENT N; CHAFEY P; VIGNE E; GILGENKRANTZ H; COUTON D; BRIAND P; KAPLAN JC; KAHN A; PERRICAUDET M
      ADENOVIRUS-MEDIATED TRANSFER OF A HUMAN DYSTROPHIN GENE TO SKELETAL-MUSCLE OF MDX MOUSE

      Journal of cellular biochemistry
    85. NAFA K; REGHIS A; OSMANI N; BAGHLI L; AITABBES H; BENABADJI M; KAPLAN JC; VULLIAMY T; LUZZATTO L
      AT LEAST 5 POLYMORPHIC MUTANTS ACCOUNT FOR THE PREVALENCE OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY IN ALGERIA

      Human genetics
    86. BIENVENU T; HUBERT D; FONKNECHTEN N; DUSSER D; KAPLAN JC; BELDJORD C
      UNEXPECTED INACTIVATION OF ACCEPTOR CONSENSUS SPLICE SEQUENCE BY A -3C TO T-TRANSITION IN INTRON-2 OF THE CFTR GENE

      Human genetics
    87. TIHY F; VOGT N; RECAN D; MALFOY B; LETURCQ F; COQUET M; SERVILLE F; FONTAN D; GUILLARD JM; KAPLAN JC; DUTRILLAUX B; LEMIEUX N
      SKEWED INACTIVATION OF AN X-CHROMOSOME DELETED AT THE DYSTROPHIN GENEIN AN ASYMPTOMATIC MOTHER AND HER AFFECTED DAUGHTER

      Human genetics
    88. KAPLAN JC
      MOLECULAR-BIOLOGY AND PRENATAL-DIAGNOSIS

      European journal of obstetrics, gynecology, and reproductive biology
    89. KAPLAN JC; HIRSCH MS
      THERAPY OTHER THAN REVERSE-TRANSCRIPTASE INHIBITORS FOR HIV-INFECTION

      Clinics in laboratory medicine
    90. ABBADI N; PHILIPPE C; CHERY M; GILGENKRANTZ H; TOME F; COLLIN H; THEAU D; RECAN D; BROUX O; FARDEAU M; KAPLAN JC; GILGENKRANTZ S
      ADDITIONAL CASE OF FEMALE MONOZYGOTIC TWINS DISCORDANT FOR THE CLINICAL MANIFESTATIONS OF DUCHENNE MUSCULAR-DYSTROPHY DUE TO OPPOSITE X-CHROMOSOME INACTIVATION

      American journal of medical genetics
    91. ROBERDS SL; LETURCQ F; ALLAMAND V; PICCOLO F; JEANPIERRE M; ANDERSON RD; LIM LE; LEE JC; TOME FMS; ROMERO NB; FARDEAU M; BECKMANN JS; KAPLAN JC; CAMPBELL KP
      MISSENSE MUTATIONS IN THE ADHALIN GENE LINKED TO AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY

      Cell
    92. ZHANG D; CALIENDO AM; ERON JJ; DEVORE KM; KAPLAN JC; HIRSCH MS; DAQUILA RT
      RESISTANCE TO 2',3'-DIDEOXYCYTIDINE CONFERRED BY A MUTATION IN CODON-65 OF THE HUMAN-IMMUNODEFICIENCY-VIRUS TYPE-1 REVERSE-TRANSCRIPTASE

      Antimicrobial agents and chemotherapy
    93. MUSCATELLI F; STROM TM; WALKER AP; ZANARIA E; RECAN D; MEINDL A; BARDONI B; GUIOLI S; ZEHETNER G; RABL W; SCHWARZ HP; KAPLAN JC; CAMERINO G; MEITINGER T; MONACO AP
      MUTATIONS IN THE DAX-1 GENE GIVE RISE TO BOTH X-LINKED ADRENAL HYPOPLASIA CONGENITA AND HYPOGONADOTROPIC HYPOGONADISM

      Nature
    94. ELKERCH F; SEFIANI A; AZIBI K; BOUTALEB N; YAHYAOUI M; BENTAHILA A; VINET MC; LETURCQ F; BACHNER L; BECKMANN J; CAMPBELL KP; TOME FMS; FARDEAU M; KAPLAN JC
      LINKAGE ANALYSIS OF FAMILIES WITH SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY IN MOROCCO INDICATES GENETIC HOMOGENEITY OF THE DISEASE IN NORTH-AFRICA

      Journal of Medical Genetics
    95. MATSUMURA K; BURGHES AHM; MORA M; TOME FMS; MORANDI L; CORNELLO F; LETURCQ F; JEANPIERRE M; KAPLAN JC; REINERT P; FARDEAU M; MENDELL JR; CAMPBELL KP
      IMMUNOHISTOCHEMICAL ANALYSIS OF DYSTROPHIN-ASSOCIATED PROTEINS IN BECKER DUCHENNE MUSCULAR-DYSTROPHY WITH HUGE IN-FRAME DELETIONS IN THE NH2-TERMINAL AND ROD DOMAINS OF DYSTROPHIN/

      The Journal of clinical investigation
    96. VIEIRA LM; KAPLAN JC; KAHN A; LEROUX A
      HETEROGENEITY OF THE RAT NADH-CYTOCHROME-B(5)-REDUCTASE TRANSCRIPTS RESULTING FROM MULTIPLE ALTERNATIVE FIRST EXONS

      European journal of biochemistry
    97. VINCENT N; RAGOT T; GILGENKRANTZ H; COUTON D; CHAFEY P; GREGOIRE A; BRIAND P; KAPLAN JC; KAHN A; PERRICAUDET M
      LONG-TERM CORRECTION OF MOUSE DYSTROPHIC DEGENERATION BY ADENOVIRUS-MEDIATED TRANSFER OF A MINIDYSTROPHIN GENE

      Nature genetics
    98. BIENVENU T; BOUSQUET S; HERBULOT C; CARTAULT F; KAPLAN JC; BELDJORD C
      SIMULTANEOUS DETECTION OF THE 2 PREVALENT MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN REUNION ISLAND

      Human mutation
    99. FERNANDEZ E; BIENVENU T; ARRAMOND FD; BELDJORD K; KAPLAN JC; BELDJORD C
      USE OF CHEMICAL CLAMPS IN DENATURING GRADIENT GEL-ELECTROPHORESIS - APPLICATION IN THE DETECTION OF THE MOST FREQUENT MEDITERRANEAN BETA-THALASSEMIC MUTATIONS

      PCR methods and applications
    100. AZIBI K; BACHNER L; BECKMANN JS; MATSUMURA K; HAMOUDA E; CHAOUCH M; CHAOUCH A; AITOUARAB R; VIGNAL A; WEISSENBACH J; VINET MC; LETURCQ F; COLLIN H; TOME FMS; REGHIS A; FARDEAU M; CAMPBELL KP; KAPLAN JC
      SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH THE DEFICIENCY OF THE 50 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN MAPS TO CHROMOSOME-13Q12

      Human molecular genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 22:11:25