Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where soggetti phrase all words 'FBN1' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 60 riferimenti
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Robinson, PN; Booms, P
      The molecular pathogenesis of the Marfan syndrome

      CELLULAR AND MOLECULAR LIFE SCIENCES
    2. Marque, V; Kieffer, P; Gayraud, B; Lartaud-Idjouadiene, I; Ramirez, F; Atkinson, J
      Aortic wall mechanics and composition in a transgenic mouse model of Marfan syndrome

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    3. Gokce, M; Erdol, C; Celik, S; Baykan, M; Erdol, H; Sari, A; Ahmetoglu, A
      Marfan's syndrome, dextrocardia and situs inversus associated with discrete subaortic stenosis and aortic insufficiency in an adult female: Case report

      JOURNAL OF HEART VALVE DISEASE
    4. Toudjarska, I; Kilpatrick, MW; Lembessis, P; Carra, S; Harton, GL; Sisson, ME; Black, SH; Stern, HJ; Gelman-Kohan, Z; Shohat, M; Tsipouras, P
      Novel approach to the molecular diagnosis of Marfan syndrome: Application to sporadic cases and in prenatal diagnosis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Judge, DP; Biery, NJ; Dietz, HC
      Characterization of microsatellite markers flanking FBN1: Utility in the diagnostic evaluation for Marfan syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Guo, D; Tan, FK; Cantu, A; Plon, SE; Milewicz, DM
      FBN1 exon 2 splicing error in a patient with Marfan syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Tan, FK; Wang, N; Kuwana, M; Chakraborty, R; Bona, CA; Milewicz, DM; Arnett, FC
      Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations

      ARTHRITIS AND RHEUMATISM
    8. Chikumi, H; Yamamoto, T; Ohta, Y; Nanba, E; Nagata, K; Ninomiya, H; Narasaki, K; Katoh, T; Hisatome, I; Ono, K; Tanaka, Y; Kuroda, H; Ohgi, S
      Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome

      JOURNAL OF HUMAN GENETICS
    9. Kettle, S; Cardy, CM; Hutchinson, S; Sykes, B; Handford, PA
      Characterisation of fibrillin-1 cDNA clones in a human fibroblast cell line that assembles microfibrils

      INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
    10. Oh, MR; Kim, JS; Beck, NS; Lee, HJ; Kohsaka, T; Jin, DK
      Six novel mutations of the fibrillin-1 gene in Korean patients with Marfansyndrome

      PEDIATRICS INTERNATIONAL
    11. Rose, PS; Levy, HP; Ahn, NU; Sponseller, PD; Magyari, T; Davis, J; Francomano, CA
      A comparison of the Berlin and Ghent nosologies and the influence of duralectasia in the diagnosis of Marfan syndrome

      GENETICS IN MEDICINE
    12. Fattori, R; Reggiani, LB; Pepe, G; Napoli, G; Bna, C; Celletti, F; Lovato, L; Gavelli, G
      Magnetic resonance imaging evaluation of aortic elastic properties as early expression of Marfan syndrome

      JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
    13. Beroud, C; Collod-Beroud, G; Boileau, C; Soussi, T; Junien, C
      UMD (Universal Mutation Database): A Generic software to build and analyzelocus-specific databases

      HUMAN MUTATION
    14. McGettrick, AJ; Knott, V; Willis, A; Handford, PA
      Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context

      HUMAN MOLECULAR GENETICS
    15. Milewicz, DM; Urban, Z; Boyd, C
      Genetic disorders of the elastic fiber system

      MATRIX BIOLOGY
    16. Laudahn, BM; Gyurus, P; Orth, U; Gal, A; Nienaber, CA
      Indirect genotype analysis as a tool for diagnosis of Marfan syndrome

      ZEITSCHRIFT FUR KARDIOLOGIE
    17. Hateboer, N; Buchalter, M; Davies, SJ; Lazarou, LP; Ravine, D
      Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred

      AMERICAN JOURNAL OF KIDNEY DISEASES
    18. Palz, M; Tiecke, F; Booms, P; Goldner, B; Rosenberg, T; Fuchs, J; Skovby, F; Schumacher, H; Kaufmann, UC; von Kodolitsch, Y; Nienaber, CA; Leitner, C; Katzke, S; Vetter, B; Hagemeier, C; Robinson, PN
      Clustering of mutations associated with mild Marfan-like phenotypes in the3 ' region of FBN1 suggests a potential genotype-phenotype correlation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. Pyeritz, RE
      The Marfan syndrome

      ANNUAL REVIEW OF MEDICINE
    20. Reinhardt, DP; Ono, RN; Notbohm, H; Muller, PK; Bachinger, HP; Sakai, LY
      Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis - A potential disease-causing mechanism inMarfan syndrome

      JOURNAL OF BIOLOGICAL CHEMISTRY
    21. Mottes, M; Mirandola, S; Rigatelli, F; Zolezzi, F; Lisi, V; Gordon, D; Pignatti, PF
      Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of Italian families with Marfan syndrome

      HUMAN HEREDITY
    22. Yuan, B; Thomas, JP; von Kodolitsch, Y; Pyeritz, RE
      Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1

      HUMAN MUTATION
    23. Ades, LC; Davies, R; Haan, EA; Holman, KJ; Watson, KC; Sreetharan, D; Cao, SN; Milewicz, DM; Bateman, JF; Chiodo, AA; Eccles, M; McNoe, L; Harbord, M
      Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent

      CLINICAL DYSMORPHOLOGY
    24. Saito, S; Nishimura, H; Brumeanu, TD; Casares, S; Stan, AC; Honjo, T; Bona, CA
      Characterization of mutated protein encoded by partially duplicated fibrillin-1 gene in tight skin (TSK) mice

      MOLECULAR IMMUNOLOGY
    25. Fattori, R; Nienaber, CA; Descovich, B; Ambrosetto, P; Reggiani, LB; Pepe, G; Kaufmann, U; Negrini, N; von Kodolitsch, Y; Gensini, GF
      Importance of dural ectasia in phenotypic assessment of Marfan's syndrome

      LANCET
    26. Smallridge, RS; Whiteman, P; Doering, K; Handford, PA; Downing, AK
      EGF-like domain calcium affinity modulated by N-terminal domain linkage inhuman fibrillin-1

      JOURNAL OF MOLECULAR BIOLOGY
    27. Ritty, TM; Broekelmann, T; Tisdale, C; Milewicz, DM; Mecham, RP
      Processing of the fibrillin-1 carboxyl-terminal domain

      JOURNAL OF BIOLOGICAL CHEMISTRY
    28. Booms, P; Cisler, J; Mathews, KR; Godfrey, M; Tiecke, F; Kaufmann, UC; Vetter, U; Hagemeier, C; Robinson, PN
      Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome

      CLINICAL GENETICS
    29. McGrory, J; Cole, WG
      Alternative splicing of exon 37 of FBN1 deletes part of an 'eight-cysteine' domain resulting in the Marfan syndrome

      CLINICAL GENETICS
    30. Schrijver, I; Liu, W; Brenn, T; Furthmayr, H; Francke, U
      Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: Distinct effects on biochemical and clinical phenotypes

      AMERICAN JOURNAL OF HUMAN GENETICS
    31. KARTTUNEN L; UKKONEN T; KAINULAINEN K; SYVANEN AC; PELTONEN L
      2 NOVEL FIBRILLIN-1 MUTATIONS RESULTING IN PREMATURE TERMINATION CODONS BUT IN DIFFERENT MUTANT TRANSCRIPT LEVELS AND CLINICAL PHENOTYPES

      Human mutation
    32. COLLODBEROUD G; BEROUD C; ADES L; BLACK C; BOXER M; BROCKS DJH; HOLMAN KJ; DEPAEPE A; FRANCKE U; GRAU U; HAYWARD C; KLEIN HG; LIU WG; NUYTINCK L; PELTONEN L; PEREZ ABA; RANTAMAKI T; JUNIEN C; BOILEAU C
      MARFAN-DATABASE (3RD EDITION) - NEW MUTATIONS AND NEW ROUTINES FOR THE SOFTWARE

      Nucleic acids research
    33. Whiteman, P; Downing, AK; Handford, PA
      NMR analysis of cbEGF domains gives new insights into the structural consequences of a P1148A substitution in fibrillin-1

      PROTEIN ENGINEERING
    34. MILEWICZ DM
      MOLECULAR-GENETICS OF MARFAN-SYNDROME AND EHLERS-DANLOS TYPE-IV

      Current opinion in cardiology
    35. PARK ES; PUTNAM EA; CHITAYAT D; CHILD A; MILEWICZ DM
      CLUSTERING OF FBN2 MUTATIONS IN PATIENTS WITH CONGENITAL CONTRACTURALARACHNODACTYLY INDICATES AN IMPORTANT ROLE OF THE DOMAINS ENCODED BY EXONS 24 THROUGH 34 DURING HUMAN-DEVELOPMENT

      American journal of medical genetics
    36. Prahlow, JA; Barnard, JJ; Milewicz, DM
      Familial thoracic aortic aneurysms and dissections

      JOURNAL OF FORENSIC SCIENCES
    37. OKLU R; METCALFE JC; HESKETH TR; KEMP PR
      LOSS OF A CONSENSUS HEPARIN-BINDING SITE BY ALTERNATIVE SPLICING OF LATENT TRANSFORMING-GROWTH-FACTOR-BETA BINDING PROTEIN-1

      FEBS letters
    38. GIBSON MA; ELLIS SL; ADES LC; HAAN E; CLEARY EG
      PREFERENTIAL PRE-MESSENGER-RNA UTILIZATION OF AN UPSTREAM CRYPTIC 5'-SPLICE-SITE CREATED BY A SINGLE-BASE DELETION MUTATION IN EXON-37 OF THE FBN-1 GENE

      European journal of biochemistry
    39. Montgomery, RA; Geraghty, MT; Bull, E; Gelb, BD; Johnson, M; McIntosh, I; Francomano, CA; Dietz, HC
      Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    40. MILEWICZ DM; CHEN H; PARK ES; PETTY EM; ZAGHI H; PAI S; WILLING M; PATEL V
      REDUCED PENETRANCE AND VARIABLE EXPRESSIVITY OF FAMILIAL THORACIC AORTIC ANEURYSMS DISSECTIONS/

      The American journal of cardiology
    41. LIU WG; QIAN CP; FRANCKE U
      SILENT MUTATION INDUCES EXON SKIPPING OF FIBRILLIN-1 GENE IN MARFAN-SYNDROME

      Nature genetics
    42. WANG M; MATHEWS KR; IMAIZUMI K; BEIRAGHI S; BLUMBERG B; SCHEUNER M; GRAHAM JM; GODFREY M
      P1148A IN FIBRILLIN-1 IS NOT A MUTATION ANYMORE

      Nature genetics
    43. WANG M; WANG JY; CISLER J; IMAIZUMI K; BURTON BK; JONES MC; LAMBERTI JJ; GODFREY M
      3 NOVEL FIBRILLIN MUTATIONS IN EXON-25 AND EXON-27 - CLASSIC VERSUS NEONATAL MARFAN-SYNDROME

      Human mutation
    44. HAYWARD C; BROCK DJH
      FIBRILLIN-1 MUTATIONS IN MARFAN-SYNDROME AND OTHER TYPE-1 FIBRILLINOPATHIES

      Human mutation
    45. HAYWARD C; PORTEOUS ME; BROCK DJH
      MUTATION SCREENING OF ALL 65 EXONS OF THE FIBRILLIN-1 GENE IN 60 PATIENTS WITH MARFAN-SYNDROME - REPORT OF 12 NOVEL MUTATIONS

      Human mutation
    46. RANTAMAKI T; KARTTUNEN L; PELTONEN L
      BADLY ENGINEERED FIBRILLIN - LESSONS FROM MOLECULAR STUDIES OF MARFAN-SYNDROME

      Trends in cardiovascular medicine
    47. CHILD AH
      MARFAN-SYNDROME - CURRENT MEDICAL AND GENETIC KNOWLEDGE - HOW TO TREAT AND WHEN

      Journal of cardiac surgery
    48. BOOMS P; WITHERS AP; BOXER M; KAUFMANN UC; HAGEMEIER C; VETTER U; ROBINSON PN
      A NOVEL DE-NOVO MUTATION IN EXON-14 OF THE FIBRILLIN-1 GENE ASSOCIATED WITH DELAYED SECRETION OF FIBRILLIN IN A PATIENT WITH A MILD MARFAN PHENOTYPE

      Human genetics
    49. SCHIEVINK WI; PARISI JE; PIEPGRAS DG; MICHELS VV
      INTRACRANIAL ANEURYSMS IN MARFANS-SYNDROME - AN AUTOPSY STUDY

      Neurosurgery
    50. PEPE G; GIUSTI B; ATTANASIO M; COMEGLIO P; PORCIANI MC; GIURLANI L; MONTESI GF; CALAMAI GC; VACCARI M; FAVILLI S; ABBATE R; GENSINI GF
      A MAJOR INVOLVEMENT OF THE CARDIOVASCULAR-SYSTEM IN PATIENTS AFFECTEDBY MARFAN-SYNDROME - NOVEL MUTATIONS IN FIBRILLIN-1 GENE

      Journal of Molecular and Cellular Cardiology
    51. BOILEAU C; COLLOD G; BONNET D
      GENETIC INPUT INTO THE PATHOPHYSIOLOGY AN D THE DIAGNOSIS OF MARFAN-SYNDROME

      Archives des maladies du coeur et des vaisseaux
    52. KILPATRICK MW; PHYLACTOU LA; GODFREY M; WU CH; WU GY; TSIPOURAS P
      DELIVERY OF A HAMMERHEAD RIBOZYME SPECIFICALLY DOWN-REGULATES THE PRODUCTION OF FIBRILLIN-1 BY CULTURED DERMAL FIBROBLASTS

      Human molecular genetics
    53. LIU WG; QIAN CP; COMEAU K; BRENN T; FURTHMAYR H; FRANCKE U
      MUTANT FIBRILLIN-1 MONOMERS LACKING EGF-LIKE DOMAINS DISRUPT MICROFIBRIL ASSEMBLY AND CAUSE SEVERE MARFAN-SYNDROME

      Human molecular genetics
    54. LONNQVIST L; KARTTUNEN L; RANTAMAKI T; KIELTY C; RAGHUNATH M; PELTONEN L
      A POINT MUTATION CREATING AN EXTRA N-GLYCOSYLATION SITE IN FIBRILLIN-1 RESULTS IN NEONATAL MARFAN-SYNDROME

      Genomics
    55. COLLOD G; BOILEAU C
      FIBRILLINS AND FIBRILLINOPATHIES

      MS. Medecine sciences
    56. PUTNAM EA; CHO M; ZINN AB; TOWBIN JA; BYERS PH; MILEWICZ DM
      DELINEATION OF THE MARFAN PHENOTYPE ASSOCIATED WITH MUTATIONS IN EXONS 23-32 OF THE FBN1 GENE

      American journal of medical genetics
    57. WANG M; CLERICUZIO CL; GODFREY M
      FAMILIAL OCCURRENCE OF TYPICAL AND SEVERE LETHAL CONGENITAL CONTRACTURAL ARACHNODACTYLY CAUSED BY MISSPLICING OF EXON-34 OF FIBRILLIN-2

      American journal of human genetics
    58. KIELTY CM; RANTAMAKI T; CHILD AH; SHUTTLEWORTH CA; PELTONEN L
      CYSTEINE-TO-ARGININE POINT MUTATION IN A HYBRID 8-CYSTEINE DOMAIN OF FBN1 - CONSEQUENCES FOR FIBRILLIN AGGREGATION AND MICROFIBRIL ASSEMBLY

      Journal of Cell Science
    59. EDWARDS MJ; CHALLINOR CJ; COLLEY PW; ROBERTS J; PARTINGTON MW; HOLLWAY GE; KOZMAN HM; MULLEY JC
      CLINICAL AND LINKAGE STUDY OF A LARGE FAMILY WITH SIMPLE ECTOPIA LENTIS LINKED TO FBN1

      American journal of medical genetics
    60. AOYAMA T; FRANCKE U; DIETZ HC; FURTHMAYR H
      QUANTITATIVE DIFFERENCES IN BIOSYNTHESIS AND EXTRACELLULAR DEPOSITIONOF FIBRILLIN IN CULTURED FIBROBLASTS DISTINGUISH 5 GROUPS OF MARFAN-SYNDROME PATIENTS AND SUGGEST DISTINCT PATHOGENETIC MECHANISMS

      The Journal of clinical investigation


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/10/20 alle ore 22:15:46