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La ricerca find articoli where soggetti phrase all words 'INFANTILE HYPOPHOSPHATASIA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 26 riferimenti
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    1. Lia-Baldini, AS; Muller, F; Taillandier, A; Gibrat, JF; Mouchard, M; Robin, B; Simon-Bouy, B; Serre, JL; Aylsworth, AS; Bieth, E; Delanote, S; Freisinger, P; Hu, JCC; Krohn, HP; Nunes, ME; Mornet, E
      A molecular approach to dominance in hypophosphatasia

      HUMAN GENETICS
    2. Farley, JR; Stilt-Coffing, B
      Apoptosis may determine the release of skeletal alkaline phosphatase activity from human osteoblast-line cells

      CALCIFIED TISSUE INTERNATIONAL
    3. Sergi, C; Mornet, E; Troeger, J; Voigtlaender, T
      Perinatal hypophosphatasia: Radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. Mornet, E; Stura, E; Lia-Baldini, AS; Stigbrand, T; Menez, A; Le Du, MH
      Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization

      JOURNAL OF BIOLOGICAL CHEMISTRY
    5. Anh, DJ; Eden, A; Farley, JR
      Quantitation of soluble and skeletal alkaline phosphatase, and insoluble alkaline phosphatase anchor-hydrolase activities in human serum

      CLINICA CHIMICA ACTA
    6. Mornet, E
      Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene

      HUMAN MUTATION
    7. Tongsong, T; Pongsatha, S
      Early prenatal sonographic diagnosis of congenital hypophosphatasia

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    8. Johnson, KA; Hessle, L; Vaingankar, S; Wennberg, C; Mauro, S; Narisawa, S; Goding, JW; Sano, K; Millan, JL; Terkeltaub, R
      Osteoblast tissue-nonspecific alkaline phosphatase antagonizes and regulates PC-1

      AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY
    9. Mochizuki, H; Saito, M; Michigami, T; Ohashi, H; Koda, N; Yamaguchi, S; Ozono, K
      Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene

      EUROPEAN JOURNAL OF PEDIATRICS
    10. Gortzak-Uzan, L; Sheiner, E; Gohar, J
      Prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple - A case report

      JOURNAL OF REPRODUCTIVE MEDICINE
    11. Muller, HL; Yamazaki, M; Michigami, T; Kageyama, T; Schonau, E; Schneider, P; Ozono, K
      Asp(361)Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    12. Girschick, HJ; Seyberth, HW; Huppertz, HI
      Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatorydrugs

      BONE
    13. Girschick, HJ; Schneider, P; Kruse, K; Huppertz, HI
      Bone metabolism and bone mineral density in childhood hypophosphatasia

      BONE
    14. Mornet, E; Muller, F; Ngo, S; Taillandier, A; Simon-Bouy, B; Maire, I; Oury, JF
      Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia

      PRENATAL DIAGNOSIS
    15. Moore, CA; Curry, CJR; Henthorn, PS; Smith, JK; Smith, JC; O'Lague, P; Coburn, SP; Weaver, DD; Whyte, MP
      Mild autosomal dominant hypophosphatasia: In utero presentation in two families

      AMERICAN JOURNAL OF MEDICAL GENETICS
    16. Gehring, B; Mornet, E; Plath, H; Hansmann, M; Bartmann, P; Brenner, RE
      Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family

      CLINICAL GENETICS
    17. MORNET E; TAILLANDIER A; PEYRAMAURE S; KAPER F; MULLER F; BRENNER R; BUSSIERE P; FREISINGER P; GODARD J; LEMERRER M; OURY JF; PLAUCHU H; PUDDU R; RIVAL JM; SUPERTIFURGA A; TOURAINE RL; SERRE JL; SIMONBOUY B
      IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE (TNSALP) GENE IN EUROPEAN PATIENTS WITH SEVERE HYPOPHOSPHATASIA

      European journal of human genetics
    18. CAI GM; MICHIGAMI T; YAMAMOTO T; YASUI N; SATOMURA K; YAMAGATA M; SHIMA M; NAKAJIMA S; MUSHIAKE S; OKADA S; OZONO K
      ANALYSIS OF LOCALIZATION OF MUTATED TISSUE NONSPECIFIC ALKALINE-PHOSPHATASE PROTEINS ASSOCIATED WITH NEONATAL HYPOPHOSPHATASIA USING GREEN FLUORESCENT PROTEIN CHIMERAS

      The Journal of clinical endocrinology and metabolism
    19. PATERSON CR
      OSTEOGENESIS IMPERFECTA AND OTHER HERITABLE DISORDERS OF BONE

      Bailliere's clinical endocrinology and metabolism
    20. SATO S; MATSUO N
      GENETIC-ANALYSIS OF HYPOPHOSPHATASIA

      Acta Paediatrica Japonica Overseas Edition
    21. ORIMO H; NAKAJIMA E; HAYASHI Z; KIJIMA K; WATANABE A; TENJIN H; ARAKI T; SHIMADA T
      FIRST-TRIMESTER PRENATAL MOLECULAR DIAGNOSIS OF INFANTILE HYPOPHOSPHATASIA IN A JAPANESE FAMILY

      Prenatal diagnosis
    22. RAMAGE IJ; HOWATSON AJ; BEATTIE TJ
      HYPOPHOSPHATASIA

      Journal of Clinical Pathology
    23. WHYTE MP; LANDT M; RYAN LM; MULIVOR RA; HENTHORN PS; FEDDE KN; MAHUREN JD; COBURN SP
      ALKALINE-PHOSPHATASE - PLACENTAL AND TISSUE-NONSPECIFIC ISOENZYMES HYDROLYZE PHOSPHOETHANOLAMINE, INORGANIC PYROPHOSPHATE, AND PYRIDOXAL 5'-PHOSPHATE - SUBSTRATE ACCUMULATION IN CARRIERS OF HYPOPHOSPHATASIA CORRECTS DURING PREGNANCY

      The Journal of clinical investigation
    24. WHYTE MP
      HYPOPHOSPHATASIA AND THE ROLE OF ALKALINE-PHOSPHATASE IN SKELETAL MINERALIZATION

      Endocrine reviews
    25. GREENBERG CR; TAYLOR CLD; HAWORTH JC; SEARGEANT LE; PHILIPPS S; TRIGGSRAINE B; CHODIRKER BN
      A HOMOALLELIC GLY(317)-]ASP MUTATION IN ALPL CAUSES THE PERINATAL (LETHAL) FORM OF HYPOPHOSPHATASIA IN CANADIAN MENNONITES

      Genomics
    26. CHAPPLE ILC
      HYPOPHOSPHATASIA - DENTAL ASPECTS AND MODE OF INHERITANCE

      Journal of clinical periodontology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/08/20 alle ore 20:04:49