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La ricerca find articoli where soggetti phrase all words 'IMPERFECTA TYPE-I' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 17 riferimenti
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    1. Bateman, JF
      The molecular genetics of inherited cartilage disease

      OSTEOARTHRITIS AND CARTILAGE
    2. Nicholls, AC; Valler, D; Wallis, S; Pope, FM
      Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro alpha 2(I) chain and an EDS/OI clinical phenotype

      JOURNAL OF MEDICAL GENETICS
    3. Schwarze, U; Schievink, WI; Petty, E; Jaff, MR; Babovic-Vuksanovic, D; Cherry, KJ; Pepin, M; Byers, PH
      Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV

      AMERICAN JOURNAL OF HUMAN GENETICS
    4. De Paepe, A; Nuytinck, L
      Heritable collagen disorders: From genotype to phenotype

      ACTA CLINICA BELGICA
    5. Byers, PH
      Collagens: building blocks at the end of the development line

      CLINICAL GENETICS
    6. Wenstrup, RJ; Florer, JB; Willing, MC; Giunta, C; Steinmann, B; Young, F; Susic, M; Cole, WG
      COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS

      AMERICAN JOURNAL OF HUMAN GENETICS
    7. Miller, ME; Hangartner, TN
      Bone density measurements by computed tomography in osteogenesis imperfecta type I

      OSTEOPOROSIS INTERNATIONAL
    8. Mirandola, S; Pignatti, PF; Mottes, M
      A novel intragenic polymorphism within the COL1A1 locus which can be detected by TaqI restriction of amplified genomic DNA

      MOLECULAR AND CELLULAR PROBES
    9. Nuytinck, L; Sayli, BS; Karen, W; De Paepe, A
      Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-alleletesting

      PRENATAL DIAGNOSIS
    10. Wang, PC; Merchant, SN; McKenna, MJ; Glynn, RJ; Nadol, JB
      Does otosclerosis occur only in the temporal bone?

      AMERICAN JOURNAL OF OTOLOGY
    11. PETERSEN K; WETZEL WE
      RECENT FINDINGS IN CLASSIFICATION OF OSTEOGENESIS IMPERFECTA BY MEANSOF EXISTING DENTAL SYMPTOMS

      Journal of dentistry for children
    12. KUIVANIEMI H; TROMP G; PROCKOP DJ
      MUTATIONS IN FIBRILLAR COLLAGENS (TYPE-I, TYPE-II, TYPE-III, AND TYPE-XI), FIBRIL-ASSOCIATED COLLAGEN (TYPE-IX), AND NETWORK-FORMING COLLAGEN (TYPE-X) CAUSE A SPECTRUM OF DISEASES OF BONE, CARTILAGE, AND BLOOD-VESSELS

      Human mutation
    13. OGUNSALU C; HANCHARD B
      FAMILIAL TARDA TYPE OSTEOGENESIS IMPERFECTA WITH DENTINOGENESIS IMPERFECTA TYPE-I - CASE-REPORT

      Australian dental journal
    14. SCHWARZE U; GOLDSTEIN JA; BYERS PH
      SPLICING DEFECTS IN THE COL3A1 GENE - MARKED PREFERENCE FOR 5'-(DONOR) SPLICE-SITE MUTATIONS IN PATIENTS WITH EXON-SKIPPING MUTATIONS AND EHLERS-DANLOS-SYNDROME TYPE-IV

      American journal of human genetics
    15. WALTIMO J; RANTA H; LUKIMNAA PL
      ULTRASTRUCTURE OF DENTIN MATRIX IN HERITABLE DENTIN DEFECTS

      Scanning microscopy
    16. STEPHENS K; ZLOTOGORSKI A; SMITH L; EHRLICH P; WIJSMAN E; LIVINGSTON RJ; SYBERT VP
      EPIDERMOLYSIS-BULLOSA SIMPLEX - A KERATIN-5 MUTATION IS A FULLY DOMINANT ALLELE IN EPIDERMAL CYTOSKELETON FUNCTION

      American journal of human genetics
    17. BONADIO J; JEPSEN KJ; MANSOURA MK; JAENISCH R; KUHN JL; GOLDSTEIN SA
      A MURINE SKELETAL ADAPTATION THAT SIGNIFICANTLY INCREASES CORTICAL BONE MECHANICAL-PROPERTIES - IMPLICATIONS FOR HUMAN SKELETAL FRAGILITY

      The Journal of clinical investigation


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/21 alle ore 02:28:11