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    1. Cabral, WA; Chernoff, EJ; Marini, JC
      G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha 1(I) chain and alters folding of the N-terminal end of the helix

      MOLECULAR GENETICS AND METABOLISM
    2. Marini, JC
      Genetic risk factors for lumbar disk disease

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    3. Bouma, P; Cabral, WA; Cole, WG; Marini, JC
      COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II

      JOURNAL OF BIOLOGICAL CHEMISTRY
    4. Forlino, A; Marini, JC
      Osteogenesis imperfecta: Prospects for molecular therapeutics

      MOLECULAR GENETICS AND METABOLISM
    5. Dawson, PA; Marini, JC
      Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts

      NUCLEIC ACIDS RESEARCH
    6. Vieira, NE; Goans, RE; Weiss, GH; Hopkins, E; Marini, JC; Yergey, AL
      Calcium kinetics in children with osteogenesis imperfecta type III and IV:Pre- and post-growth hormone therapy

      CALCIFIED TISSUE INTERNATIONAL
    7. Dawson, PA; Marini, JC
      Osteogenesis imperfecta

      GENETICS OF OSTEOPOROSIS AND METABOLIC BONE DISEASE
    8. Vieira, NE; Marini, JC; Hopkins, E; Abrams, SA; Yergey, AL
      Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV

      BONE
    9. Walker, LC; Marini, JC; Grange, DK; Filie, J; Yeowell, HN
      A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene

      MOLECULAR GENETICS AND METABOLISM
    10. O'Connell, AC; Marini, JC
      Evaluation of oral problems in an osteogenesis imperfecta population

      ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTICS
    11. Marini, JC
      Osteogenesis imperfecta calls for caution

      NATURE MEDICINE
    12. Dawson, PA; Kelly, TE; Marini, JC
      Extension of phenotype associated with structural mutations in type T collagen: Siblings with juvenile osteoporosis have an alpha 2(I)Gly436 -> Arg substitution

      JOURNAL OF BONE AND MINERAL RESEARCH
    13. Forlino, A; Porter, FD; Lee, EJ; Westphal, H; Marini, JC
      Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha 1(I) G349C substitution - Variability in phenotype in BrtlIV mice

      JOURNAL OF BIOLOGICAL CHEMISTRY
    14. SARAFOVA AP; CHOI H; FORLINO A; GAJKO A; CABRAL WA; TOSI L; REING CM; MARINI JC
      3 NOVEL TYPE-I COLLAGEN MUTATIONS IN OSTEOGENESIS IMPERFECTA TYPE-IV PROBANDS ARE ASSOCIATED WITH DISCREPANCIES BETWEEN ELECTROPHORETIC MIGRATION OF OSTEOBLAST AND FIBROBLAST COLLAGEN

      Human mutation
    15. CABRAL WA; MARINI JC
      OSTEOBLASTS FROM 3 OI PROBANDS PERMIT GREATER INTRACELLULAR SURVIVAL AND SECRETION OF MUTANT COLLAGEN THAN DO FIBROBLASTS

      Molecular biology of the cell
    16. FORLINO A; CABRAL WA; MARINI JC
      MUTANT COLLAGEN-SYNTHESIS, MATRIX INCORPORATION AND RETENTION BY CULTURED FIBROBLASTS AND OSTEOBLASTS FROM 2 OI TYPE-IV PROBANDS

      Molecular biology of the cell
    17. FORLINO A; PORTER FD; MARINI JC
      OSTEOGENESIS IMPERFECTA MURINE MODELS - USE OF THE CRE LOX RECOMBINATION SYSTEM TO CREATE THE FIRST KNOCK-IN OI MOUSE/

      European journal of human genetics
    18. DAWSON PA; MARINI JC
      RIBOZYME SUPPRESSION OF MUTANT TYPE-T COLLAGEN MESSENGER-RNA IN CULTURED OI FIBROBLASTS - DEVELOPMENT OF GENE-THERAPY FOR DOMINANT DISORDERS

      Matrix biology
    19. FORLINO A; PORTER FD; MARINI JC
      USE OF THE CRE LOX RECOMBINATION SYSTEM TO CREATE THE FIRST KNOCK-IN MURINE MODEL FOR OSTEOGENESIS IMPERFECTA/

      Matrix biology
    20. Forlino, A; Keene, DR; Schmidt, K; Marini, JC
      An alpha 2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of Osteogenesis Imperfecta

      MATRIX BIOLOGY
    21. VIEIRA NE; GOANS RE; WEISS GH; MARINI JC; HOPKINS E; YERGEY AL
      CALCIUM KINETICS IN CHILDREN WITH OSTEOGENESIS-IMPERFECTA TYPE-III AND TYPE-IV - PREGROWTH AND POSTGROWTH HORMONE-THERAPY

      The FASEB journal
    22. MARINI JC
      OSTEOGENESIS IMPERFECTA - MANAGING BRITTLE BONES

      The New England journal of medicine
    23. BUTTERFIELD RJ; SUDWEEKS JD; BLANKENHORN EP; KORNGOLD R; MARINI JC; TODD JA; ROPER RJ; TEUSCHER C
      NEW GENETIC-LOCI THAT CONTROL SUSCEPTIBILITY AND SYMPTOMS OF EXPERIMENTAL ALLERGIC ENCEPHALOMYELITIS IN INBRED MICE

      The Journal of immunology (1950)
    24. FORLINO A; DAMATO E; VALLI M; CAMERA G; HOPKINS E; MARINI JC; CETTA G; COVIELLO DA
      PHENOTYPIC COMPARISON OF AN OSTEOGENESIS IMPERFECTA TYPE-IV PROBAND WITH A DE-NOVO ALPHA-2(I) GLY922-]SER SUBSTITUTION IN TYPE-I COLLAGEN AND AN UNRELATED PATIENT WITH AN IDENTICAL MUTATION

      Biochemical and molecular medicine
    25. FORLINO A; CABRAL WA; MARINI JC
      SYNTHESIS, SECRETION AND EXTRACELLULAR-MATRIX ANALYSIS OF MUTANT TYPE-I COLLAGEN PRODUCED BY CULTURED OSTEOBLASTS AND FIBROBLASTS FROM 2 TYPE-IV OI PROBANDS

      Molecular biology of the cell
    26. VIEIRA NE; MARINI JC; HOPKINS E; YERGEY AL
      EFFECT OF GROWTH-HORMONE (GH) TREATMENT ON CALCIUM KINETICS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA (OI) TYPE-III AND TYPE-IV

      The FASEB journal
    27. FORLINO A; CABRAL WA; MARINI JC
      EXPRESSION, SECRETION, AND MATRIX INCORPORATION OF MUTANT TYPE-I COLLAGEN SYNTHESIZED BY CULTURED OI OSTEOBLASTS

      Journal of bone and mineral research
    28. MARINI JC; CHROUSUS G; HOPKINS E; REING CM; GLORIEUX FH; GUNDBERG CM
      GROWTH-HORMONE TREATMENT TRIAL OF CHILDREN WITH TYPE-III AND TYPE-IV OSTEOGENESIS IMPERFECTA

      Journal of bone and mineral research
    29. GRASSI G; FORLINO A; MARINI JC
      CLEAVAGE OF COLLAGEN RNA TRANSCRIPTS BY HAMMERHEAD RIBOZYMES IN-VITROIS MUTATION-SPECIFIC AND SHOWS COMPETITIVE-BINDING EFFECTS

      Nucleic acids research
    30. MARINI JC; GERBER NL
      OSTEOGENESIS IMPERFECTA REHABILITATION AND PROSPECTS FOR GENE-THERAPY

      JAMA, the journal of the American Medical Association
    31. HOOPER DC; BAGASRA O; MARINI JC; ZBOREK A; OHNISHI ST; KEAN R; CHAMPION JM; SARKER AB; BOBROSKI L; FARBER JL; AKAIKE T; MAEDA H; KOPROWSKI H
      PREVENTION OF EXPERIMENTAL ALLERGIC ENCEPHALOMYELITIS BY TARGETING NITRIC-OXIDE AND PEROXYNITRITE - IMPLICATIONS FOR THE TREATMENT OF MULTIPLE-SCLEROSIS

      Proceedings of the National Academy of Sciences of the United Statesof America
    32. HORWITZ EM; PROCKOP DJ; MARINI JC; FITZPATRICK LA; GORDON P; KOO W; NEEL M; ORCHARD P; BRENNER MK
      BONE-MARROW TRANSPLANTATION (BMT) TO CORRECT THE MESENCHYMAL DEFECT OF CHILDREN WITH OSTEOGENESIS IMPERFECTA

      Blood
    33. CHARNAS LR; HOPKINS E; MARINI JC
      THE DYNAMIC DEFORMATION SEQUENCE OF BASILAR INVAGINATION IN OSTEOGENESIS IMPERFECTA

      American journal of human genetics
    34. FORLINO A; PORTER FD; MARINI JC
      CRE-MEDIATED SITE-SPECIFIC RECOMBINATION IN THE MURINE COL1A1 GENE - GENERATION OF A CONDITIONAL MURINE MODEL FOR OSTEOGENESIS IMPERFECTA

      American journal of human genetics
    35. KELLY TE; DAWSON PA; MARINI JC
      EXTENSION OF PHENOTYPE ASSOCIATED WITH STRUCTURAL MUTATIONS IN TYPE-ICOLLAGEN - SIBLINGS WITH JUVENILE OSTEOPOROSIS HAVE AN ALPHA-2(I)GLY436-]ARG SUBSTITUTION

      American journal of human genetics
    36. MARINI JC; FORLINO A; CABRAL WA
      METABOLISM OF MUTANT TYPE-I COLLAGEN DIFFERS IN OSTEOBLASTS AND FIBROBLASTS FROM 2 TYPE-IV O1 PROBANDS

      American journal of human genetics
    37. DAWSON PA; GRASSI G; MARINI JC
      SUPPRESSION OF MUTANT TYPE-I COLLAGEN MESSENGER-RNA BY HAMMERHEAD RIBOZYMES IN CULTURED SKIN FIBROBLASTS

      American journal of human genetics
    38. HOPKINS E; CHROUSOS GP; GLORIEUX FH; REING CM; GUNDBERG CM; MARINI JC
      GROWTH-HORMONE TREATMENT TRIAL OF CHILDREN WITH TYPE-III AND TYPE-IV OSTEOGENESIS IMPERFECTA

      American journal of human genetics
    39. FORLINO A; WANG Q; MARINI JC
      COMBINED EFFECT OF A NULL ALLELE AND A NONCOLLAGENOUS INSERTION IN COL1A1 MESSENGER-RNA IS RESPONSIBLE FOR THE SEVERE PHENOTYPE IN A FAMILYAFFECTED BY OSTEOGENESIS IMPERFECTA

      Matrix biology
    40. GRASSI G; MARINI JC
      HAMMERHEAD RIBOZYMES ACHIEVE ALLELE-SPECIFIC CLEAVAGE OF COLLAGEN MESSENGER-RNA IN-VITRO FROM PATIENTS AFFECTED BY OSTEOGENESIS IMPERFECT

      Matrix biology
    41. FORLINO A; MARINI JC
      UNUSUAL ELECTROPHORETIC MOBILITY OF ALPHA-2(I) COLLAGEN CHAIN CAUSED BY A GLY421 TO ASP SUBSTITUTION IN A LETHAL CASE OF OSTEOGENESIS IMPERFECTA

      Matrix biology
    42. COHEN IR; GAJKO A; MARINI JC
      EXPRESSION AND REGULATION OF TYPE-I COLLAGEN AND OTHER MATRIX COMPONENTS IN OSTEOGENESIS IMPERFECTA OSTEOBLASTS

      Matrix biology
    43. COHEN IR; GAJKO A; MARINI JC
      EXPRESSION AND REGULATION OF TYPE-I COLLAGEN AND OTHER MATRIX COMPONENTS IN OSTEOGENESIS IMPERFECTA OSTEOBLASTS

      Journal of bone and mineral research
    44. GRASSI G; MARINI JC
      RIBOZYMES - STRUCTURE, FUNCTION AND POTENTIAL THERAPY FOR DOMINANT GENETIC-DISORDERS

      Annals of medicine
    45. FORLINO A; WANG Q; MARINI JC
      ALTERNATIVE SPLICING CAUSED BY A LARGE DELETION IN COL1A1 GENE IS RESPONSIBLE FOR A SEVERE CASE OF OSTEOGENESIS IMPERFECTA TYPE-III

      Pediatric research
    46. GRASSI G; MARINI JC
      HAMMERHEAD RIBOZYMES ACHIEVE ALLELE-SPECIFIC CLEAVAGE OF COLLAGEN MESSENGER-RNA IN-VITRO FROM PATIENTS AFFECTED BY OSTEOGENESIS IMPERFECTA

      Pediatric research
    47. MARINI JC; JAMESON BA; LUBLIN FD; KORNGOLD R
      A CD4-CDR3 PEPTIDE ANALOG INHIBITS BOTH PRIMARY AND SECONDARY AUTOREACTIVE CD4(-CELL RESPONSES IN EXPERIMENTAL ALLERGIC ENCEPHALOMYELITIS()T)

      The Journal of immunology
    48. WANG Q; MARINI JC
      ANTISENSE OLIGODEOXYNUCLEOTIDES SELECTIVELY SUPPRESS EXPRESSION OF THE MUTANT ALPHA-2(I) COLLAGEN ALLELE IN TYPE-IV OSTEOGENESIS IMPERFECTAFIBROBLASTS - A MOLECULAR APPROACH TO THERAPEUTICS OF DOMINANT-NEGATIVE DISORDERS

      The Journal of clinical investigation
    49. WANG Q; FORLINO A; MARINI JC
      ALTERNATIVE SPLICING IN COL1A1 MESSENGER-RNA LEADS TO A PARTIAL NULL ALLELE AND 2 IN-FRAME FORMS WITH STRUCTURAL DEFECTS IN NONLETHAL OSTEOGENESIS IMPERFECTA

      The Journal of biological chemistry
    50. TOWNSEND RM; BRIGGS C; MARINI JC; MURPHY GF; KORNGOLD R
      INHIBITORY EFFECT OF A CD4-CDR3 PEPTIDE ANALOG ON GRAFT-VERSUS-HOST DISEASE ACROSS A MAJOR HISTOCOMPATIBILITY COMPLEX-HAPLOIDENTICAL BARRIER

      Blood
    51. GOANS RE; ABRAMS SA; VIEIRA NE; MARINI JC; PEREZ MD; YERGEY AL
      A 3-HOUR MEASUREMENT TO EVALUATE BONE CALCIUM TURNOVER

      Bone
    52. MARINI JC; JAMESON BA; KORNGOLD R
      STRUCTURE-BASED DESIGNED CD4 ANALOG INHIBITS EXPERIMENTAL ALLERGIC ENCEPHALOMYELITIS (EAE)

      The FASEB journal
    53. COSTELLO JF; DINTELMANN R; FORMAN K; GILSTER JE; GREENWELL SR; GREGORY JF; HART J; HAZZARD FC; HEBERER RED; KLINGELHOEFER CM; LITTLETON PA; MARKARIAN JR; MULRYAN Y; REICHERT TJ; REUTER GC; RICHTER MK; SCHUERMANN J; ESTERLY NB; FARRINGTON FH; GUCKES AD; HOWARD RO; JORGENSON RJ; MARINI JC; MEYER CM; ROSSER LL; SYBERT VP; TANNER B
      GASTROINTESTINAL COMPLAINTS IN INDIVIDUALS WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA (CHRIST-SIEMENS-TOURAINE SYNDROME)

      Pediatric dermatology
    54. MARINI JC; WANG Q
      ANTISENSE OLIGONUCLEOTIDES SELECTIVELY SUPPRESS PRODUCTION OF MUTANT ALPHA-2(I) COLLAGEN IN OSTEOGENESIS IMPERFECTA TYPE-IV FIBROBLASTS - AN APPROACH TO GENE-THERAPY FOR A DOMINANT DISORDER OF MATRIX STRUCTURAL PROTEIN

      Pediatric research
    55. SARAFOVA AP; MARINI JC
      CULTURED OSTEOBLASTS FROM OSTEOGENESIS IMPERFECTA PATIENTS SYNTHESIZECOLLAGEN WHICH IS ELECTROPHORETICALLY DISTINCT FROM PATIENTS FIBROBLAST COLLAGEN

      Pediatric research
    56. WANG Q; LEWIS MB; MARINI JC
      A NOVEL DELETION INSERTION MUTATION IN THE MESSENGER-RNA TRANSCRIBED FROM ONE ALPHA-1(I) COLLAGEN ALLELE IN FAMILY WITH DOMINANT TYPE-III OI AND GERMLINE MOSAICISM

      Pediatric research
    57. TOWNSEND RM; MARINI JC; KORNGOLD R
      INHIBITORY, EFFECT OF A CD4-CDR3 PEPTIDE ANALOG GRAFT-VS-HOST DISEASEFOLLOWING ALLOGENEIC BONE-MARROW TRANSPLANTATION

      Blood
    58. WANG Q; MARINI JC
      SELECTIVE IN-VITRO RIBOZYME CLEAVAGE OF MUTANT AND NORMAL TYPE-I COLLAGEN RNA FROM A CASE OF TYPE-III OSTEOGENESIS IMPERFECTS

      American journal of human genetics
    59. MARINI JC; STEBE B; KARTHEUSER E
      EXCITON-PHONON INTERACTION IN CDSE AND CUCL POLAR SEMICONDUCTOR NANOSPHERES

      Physical review. B, Condensed matter
    60. MARINI JC; WANG Q
      USE OF ANTISENSE OLIGONUCLEOTIDES TO SELECTIVELY SUPPRESS PRODUCTION OF THE MUTANT ALPHA-2(I) CHAIN IN OSTEOGENESIS IMPERFECTA TYPE-IV FIBROBLASTS

      Pediatric research
    61. JAMESON BA; MCDONNELL JM; MARINI JC; KORNGOLD R
      A RATIONALLY DESIGNED CD4 ANALOG INHIBITS EXPERIMENTAL ALLERGIC ENCEPHALOMYELITIS

      Nature
    62. FILIE JD; ORRISON BM; WANG Q; LEWIS MB; MARINI JC
      A DE-NOVO G-]A MUTATION AT THE ALPHA-2(I) EXON 16 SPLICE DONOR SITE CAUSES SKIPPING OF EXON 16 IN THE CDNA OF ONE ALLELE OF AN OI TYPE-IV PROBAND(1)

      Human mutation
    63. MARINI JC; STEBE B; KARTHEUSER E
      INFLUENCE OF THE ELECTRON-PHONON INTERACTION ON A DONOR LIKE EXCITON IN A SEMICONDUCTOR MICROSPHERE

      Solid state communications
    64. CHARNAS LR; MARINI JC
      COMMUNICATING HYDROCEPHALUS, BASILAR INVAGINATION, AND OTHER NEUROLOGIC FEATURES IN OSTEOGENESIS IMPERFECTA

      Neurology
    65. MARINI JC; BORDENICK S; HEAVNER G; ROSE S; HINTZ R; ROSENFELD R; CHROUSOS GP
      THE GROWTH-HORMONE AND SOMATOMEDIN AXIS IN SHORT CHILDREN WITH OSTEOGENESIS IMPERFECTA

      The Journal of clinical endocrinology and metabolism
    66. WANG Q; ORRISON BM; MARINI JC
      2 ADDITIONAL CASES OF OSTEOGENESIS IMPERFECTA WITH SUBSTITUTIONS FOR GLYCINE IN THE ALPHA-2(I) COLLAGEN CHAIN - A REGIONAL MODEL RELATING MUTATION LOCATION WITH PHENOTYPE

      The Journal of biological chemistry
    67. MARINI JC; WANG Q; LEWIS MB
      IDENTIFICATION OF AN IDENTICAL NON-LETHAL-ALPHA-1(I) MUTATION IN 2 UNRELATED FAMILIES WITH WIDE VARIABILITY OF OSTEOGENESIS IMPERFECTA PHENOTYPE

      American journal of human genetics
    68. WANG Q; MARINI JC
      USE OF ANTISENSE OLIGONUCLEOTIDES DIRECTED AT MESSENGER-RNA AND GENOMIC DNA TO SELECTIVELY SUPPRESS PRODUCTION OF THE MUTANT ALPHA-2(I) CHAIN IN OSTEOGENESIS IMPERFECTA TYPE-IV FIBROBLASTS

      American journal of human genetics


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Documento generato il 23/01/21 alle ore 20:52:08