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La ricerca find articoli where soggetti phrase all words 'NEONATAL MARFAN-SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 22 riferimenti
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    1. Derbent, M; Gurakan, B; Saygil, A; Baltaci, V; Balci, S
      Popliteal pterygium associated with neonatal Marfan syndrome: case report

      CLINICAL DYSMORPHOLOGY
    2. Freeze, HH; Westphal, V
      Balancing N-linked glycosylation to avoid disease

      BIOCHIMIE
    3. Andelfinger, G; Shirali, GS; Raunikar, RA; Atz, AM
      Functional pulmonary atresia in neonatal Marfan's syndrome: Successful treatment with inhaled nitric oxide

      PEDIATRIC CARDIOLOGY
    4. Booms, P; Tiecke, F; Rosenberg, T; Hagemeier, C; Robinson, PN
      Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments

      HUMAN GENETICS
    5. Belleh, S; Zhou, GM; Wang, M; Der Kaloustian, VM; Pagon, RA; Godfrey, M
      Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. 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
    7. Bresters, D; Nikkels, PGJ; Meijboom, EJM; Hoorntje, TM; Pals, G; Beemer, FA
      Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome

      ACTA PAEDIATRICA
    8. Halliday, D; Hutchinson, S; Kettle, S; Firth, H; Wordsworth, P; Handford, PA
      Molecular analysis of eight mutations in FBN1

      HUMAN GENETICS
    9. 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
    10. 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
    11. 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
    12. 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
    13. 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
    14. 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
    15. 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
    16. REINHARDT DP; ONO RN; SAKAI LY
      CALCIUM STABILIZES FIBRILLIN-1 AGAINST PROTEOLYTIC DEGRADATION

      The Journal of biological chemistry
    17. PUTNAM EA; PARK ES; AALFS CM; HENNEKAM RCM; MILEWICZ DM
      PARENTAL SOMATIC AND GERM-LINE MOSAICISM FOR A FBN2 MUTATION AND ANALYSIS OF FBN2 TRANSCRIPT LEVELS IN DERMAL FIBROBLASTS

      American journal of human genetics
    18. 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
    19. SAKAI LY; BURGESON RE; OLSEN BR; ROWE DW; GORDON SL
      CURRENT KNOWLEDGE AND RESEARCH DIRECTIONS IN HERITABLE DISORDERS OF CONNECTIVE-TISSUE

      Matrix biology
    20. 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
    21. KIELTY CM; WHITTAKER SP; SHUTTLEWORTH CA
      FIBRILLIN - EVIDENCE THAT CHONDROITIN SULFATE PROTEOGLYCANS ARE COMPONENTS OF MICROFIBRILS AND ASSOCIATE WITH NEWLY SYNTHESIZED MONOMERS

      FEBS letters
    22. 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


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/08/20 alle ore 00:04:52