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La ricerca find articoli where soggetti phrase all words 'FIBRILLIN GENE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 51 riferimenti
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    1. Robinson, PN; Booms, P
      The molecular pathogenesis of the Marfan syndrome

      CELLULAR AND MOLECULAR LIFE SCIENCES
    2. Tiecke, F; Katzke, S; Booms, P; Robinson, PN; Neumann, L; Godfrey, M; Mathews, KR; Scheuner, M; Hinkel, GK; Brenner, RE; Hovels-Gurich, HH; Hagemeier, C; Fuchs, J; Skovby, F; Rosenberg, T
      Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40

      EUROPEAN JOURNAL OF HUMAN GENETICS
    3. Fietta, P; Manganelli, P
      Coexistent Marfan's syndrome and ankylosing spondylitis: A case report

      CLINICAL RHEUMATOLOGY
    4. Hutchinson, S; Wordsworth, BP; Handford, PA
      Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence

      HUMAN GENETICS
    5. 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
    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. McGaha, T; Saito, S; Phelps, RG; Gordon, R; Noben-Trauth, N; Paul, WE; Bona, C
      Lack of skin fibrosis in tight skin (TSK) mice with targeted mutation in the interleukin-4R alpha and transforming growth factor-beta genes

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    8. Pepe, G; Giusti, B; Evangelisti, L; Porciani, MC; Brunelli, T; Giurlani, L; Attanasio, M; Fattori, R; Bagni, C; Comeglio, P; Abbate, R; Gensini, GF
      Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation

      CLINICAL GENETICS
    9. Denton, CP; Bing, Z; Xu, SW; Zhang, ZP; Bou-Gharios, G; Eberspaecher, H; Black, CM; de Crombrugghe, B
      Activation of a fibroblast-specific enhancer of the Pro alpha 2(I) collagen gene in tight-skin mice

      ARTHRITIS AND RHEUMATISM
    10. Dodig, TD; Mack, KT; Cassarino, DF; Clark, SH
      Development of the tight-skin phenotype in immune-deficient mice

      ARTHRITIS AND RHEUMATISM
    11. Dietz, HC; Mecham, RP
      Mouse models of genetic diseases resulting from mutations in elastic fiberproteins

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

      ZEITSCHRIFT FUR KARDIOLOGIE
    13. Tuling, JR; Crowther, ET; McCord, P
      Clinical considerations in the chiropractic management of the patient withMarfan syndrome

      JOURNAL OF MANIPULATIVE AND PHYSIOLOGICAL THERAPEUTICS
    14. 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
    15. Hata, RI; Akai, J; Kimura, A; Ishikawa, O; Kuwana, M; Shinkai, H
      Association of functional microsatellites in the human type I collagen alpha 2 chain (COL1A2) gene with systemic sclerosis

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    16. Zhou, XD; Tan, FK; Stivers, DN; Arnett, FC
      Microsatellites and intragenic polymorphisms of transforming growth factorbeta and platelet-derived growth factor and their receptor genes in NativeAmericans with systemic sclerosis (scleroderma) - A preliminary analysis showing no genetic association

      ARTHRITIS AND RHEUMATISM
    17. Ng, DK; Chau, KW; Black, C; Thomas, TMM; Mak, KL; Boxer, M
      Neonatal Marfan syndrome: A case report

      JOURNAL OF PAEDIATRICS AND CHILD HEALTH
    18. Biery, NJ; Eldadah, ZA; Moore, CS; Stetten, G; Spencer, F; Dietz, HC
      Revised genomic organization of FBN1 and significance for regulated gene expression

      GENOMICS
    19. Ramirez, F; Gayraud, B; Pereira, L
      Marfan syndrome: new clues to genotype-phenotype correlations

      ANNALS OF MEDICINE
    20. Halliday, D; Hutchinson, S; Kettle, S; Firth, H; Wordsworth, P; Handford, PA
      Molecular analysis of eight mutations in FBN1

      HUMAN GENETICS
    21. Urban, Z; Michels, VV; Thibodeau, SN; Donis-Keller, H; Csiszar, K; Boyd, CD
      Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts

      HUMAN GENETICS
    22. Weidenbach, M; Brenner, R; Rantamaki, T; Redel, DA
      Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene

      PEDIATRIC CARDIOLOGY
    23. Zhang, MC; He, L; Giro, M; Yong, SL; Tiller, GE; Davidson, JM
      Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)

      JOURNAL OF BIOLOGICAL CHEMISTRY
    24. Ong, CJ; Ip, S; Teh, SJ; Wong, C; Jirik, FR; Grusby, MJ; Teh, HS
      A role for T helper 2 cells in mediating skin fibrosis in tight-skin mice

      CELLULAR IMMUNOLOGY
    25. Collod-Beroud, G; Lackmy-Port-Lys, M; Jondeau, G; Mathieu, M; Maingourd, Y; Coulon, M; Guillotel, M; Junien, C; Boileau, C
      Demonstration of the recurrence of Marfan-like skeletal and cardiovascularmanifestations due to germline mosaicism for an FBN1 mutation

      AMERICAN JOURNAL OF HUMAN GENETICS
    26. PINEDA C; GURZA A; RODRIGUEZ MA; CASTANON C; VAZQUEZ J; SILVEIRA LH; MARTINEZLAVIN M
      REVISED DIAGNOSTIC-CRITERIA FOR THE MARFAN-SYNDROME A CLINICAL-RADIOGRAPHIC ESSAY

      Journal of clinical rheumatology
    27. BONNET D; RAUZIER JM; BOUVAGNET P; SIDI D
      GENETICS OF CONGENITAL HEART-DISEASES

      MS. Medecine sciences
    28. 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
    29. VONKODOLITSCH Y; RAGHUNATH M; NIENABER CA
      THE MARFAN-SYNDROME - PREVALENCE AND NATU RAL-HISTORY OF CARDIOVASCULAR MANIFESTATIONS

      Zeitschrift fur Kardiologie
    30. VONKODOLITSCH Y; RAGHUNATH M; DIECKMANN C; NIENABER CA
      THE MARFAN-SYNDROME - DIAGNOSIS OF THE CA RDIOVASCULAR MANIFESTATIONS

      Zeitschrift fur Kardiologie
    31. MILEWICZ DM
      MOLECULAR-GENETICS OF MARFAN-SYNDROME AND EHLERS-DANLOS TYPE-IV

      Current opinion in cardiology
    32. 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
    33. COURTENS W; TJALMA W; MESSIAEN L; VAMOS E; MARTIN JJ; VANBOGAERT E; KEERSMAEKERS G; MEULYZER P; WAUTERS J
      PRENATAL-DIAGNOSIS OF A CONSTITUTIONAL INTERSTITIAL DELETION OF CHROMOSOME-5 (Q15Q31.1) PRESENTING WITH FEATURES OF CONGENITAL CONTRACTURALARACHNODACTYLY

      American journal of medical genetics
    34. 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
    35. SPONSELLER PD; SETHI N; CAMERON DE; PYERITZ RE
      INFANTILE SCOLIOSIS IN MARFAN-SYNDROME

      Spine (Philadelphia, Pa. 1976)
    36. COLLODBEROUD G; BEROUD C; ADES L; BLACK C; BOXER M; BROCK DJ; GODFREY M; HAYWARD C; KARTTUNEN L; MILEWICZ D; PELTONEN L; RICHARDS RI; WANG M; JUNIEN C; BOILEAU C
      MARFAN DATABASE (2ND EDITION) - SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN FBN1 GENE

      Nucleic acids research
    37. SCHIEVINK WI; PARISI JE; PIEPGRAS DG; MICHELS VV
      INTRACRANIAL ANEURYSMS IN MARFANS-SYNDROME - AN AUTOPSY STUDY

      Neurosurgery
    38. 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
    39. SOTOS JF
      SECTION V - SYNDROMES AND OTHER DISORDERS ASSOCIATED WITH OVERGROWTH

      Clinical pediatrics
    40. LIPSCOMB KJ; CLAYTONSMITH J; HARRIS R
      EVOLVING PHENOTYPE OF MARFANS-SYNDROME

      Archives of Disease in Childhood
    41. DIETZ HC
      MOLECULAR ETIOLOGY, PATHOGENESIS AND DIAGNOSIS OF THE MARFAN-SYNDROME

      Progress in pediatric cardiology
    42. SAKAI LY; BURGESON RE; OLSEN BR; ROWE DW; GORDON SL
      CURRENT KNOWLEDGE AND RESEARCH DIRECTIONS IN HERITABLE DISORDERS OF CONNECTIVE-TISSUE

      Matrix biology
    43. COLLOD G; BEROUD C; SOUSSI T; JUNIEN C; BOILEAU C
      SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN FBN1GENE

      Nucleic acids research
    44. 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
    45. STRAUSS AW; JOHNSON MC
      THE GENETIC-BASIS OF PEDIATRIC CARDIOVASCULAR-DISEASE

      Seminars in perinatology
    46. SILVERMAN DI; GRAY J; ROMAN MJ; BRIDGES A; BURTON K; BOXER M; DEVEREUX RB; TSIPOURAS P
      FAMILY HISTORY OF SEVERE CARDIOVASCULAR-DISEASE IN MARFAN-SYNDROME ISASSOCIATED WITH INCREASED AORTIC DIAMETER AND DECREASED SURVIVAL

      Journal of the American College of Cardiology
    47. DIETZ HC; KENDZIOR RJ
      MAINTENANCE OF AN OPEN READING FRAME AS AN ADDITIONAL LEVEL OF SCRUTINY DURING SPLICE-SITE SELECTION

      Nature genetics
    48. EVERETT ET; PABLOS JL; HARRIS SE; LEROY EC; NORRIS JS
      THE TIGHT-SKIN (TSK) MUTATION IS CLOSELY LINKED TO B2M ON MOUSE CHROMOSOME 2

      Mammalian genome
    49. DIETZ HC; MCINTOSH I; SAKAI LY; CORSON GM; CHALBERG SC; PYERITZ RE; FRANCOMANO CA
      4 NOVEL FBN1 MUTATIONS - SIGNIFICANCE FOR MUTANT TRANSCRIPT LEVEL ANDEGF-LIKE DOMAIN CALCIUM-BINDING IN THE PATHOGENESIS OF MARFAN-SYNDROME

      Genomics
    50. GIRO M; DAVIDSON JM
      FAMILIAL CO-SEGREGATION OF THE ELASTIN PHENOTYPE IN SKIN FIBROBLASTS FROM HUTCHINSON-GILFORD PROGERIA

      Mechanism of ageing and development
    51. PAN TC; SASAKI T; ZHANG RZ; FASSLER R; TIMPL R; CHU ML
      STRUCTURE AND EXPRESSION OF FIBULIN-2, A NOVEL EXTRACELLULAR-MATRIX PROTEIN WITH MULTIPLE EGF-LIKE REPEATS AND CONSENSUS MOTIFS FOR CALCIUM-BINDING

      The Journal of cell biology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/10/20 alle ore 19:53:47