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La ricerca find articoli where authors phrase all words 'Mornet, E' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 28 riferimenti
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    1. Malou, E; Gekas, J; Troucelier-Lucas, V; Mornet, E; Razafimanantsoa, L; Cuvelier, B; Mathieu, M; Thepot, F
      X-linked recessive chondrodysplasia punctata: cytogenetic and molecular biology study.

      ARCHIVES DE PEDIATRIE
    2. 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
    3. Megarbane, A; Waked, N; Chouery, E; Moglabey, YB; Saliba, N; Mornet, E; Serre, JL; Slim, R
      Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. 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
    5. Deneux, C; Tardy, V; Dib, A; Mornet, E; Billaud, L; Charron, D; Morel, Y; Kuttenn, F
      Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    6. 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
    7. Mornet, E
      Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene

      HUMAN MUTATION
    8. Hu, JCC; Plaetke, R; Mornet, E; Zhang, CH; Sun, XL; Thomas, HF; Simmer, JP
      Characterization of a family with dominant hypophosphatasia

      EUROPEAN JOURNAL OF ORAL SCIENCES
    9. Mornet, E; Gibrat, JF
      A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations

      HUMAN GENETICS
    10. Muller, F; Rebiffe, M; Taillandier, A; Oury, JF; Mornet, E
      Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21

      HUMAN GENETICS
    11. Zurutuza, L; Muller, F; Gibrat, JF; Taillandier, A; Simon-Buoy, B; Serre, JL; Mornet, E
      Correlations of genotype and phenotype in hypophosphatasia

      HUMAN MOLECULAR GENETICS
    12. 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
    13. 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
    14. 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
    15. MORNET E; TAILLANDIER A; PEYRAMAURE S; KAPER F; MULLER F; SERRE JL; SIMONBOUY B
      IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE GENE IN EUROPEAN PATIENTS WITH HYPOPHOSPHATASIA

      European journal of human genetics
    16. MORNET E; CHATEAU C; SIMONBOUY B; SERRE JL
      THE INTERMEDIATE ALLELES OF THE FRAGILE-X CGG REPEAT IN PATIENTS WITHMENTAL-RETARDATION

      Clinical genetics
    17. MORNET E
      FRAGILE-X-SYNDROME - RESPONSE

      Archives de pediatrie
    18. BLANCHE H; VEXIAU P; CLAUIN S; LEGALL I; FIET J; MORNET E; DAUSSET J; BELLANNECHANTELOT C
      EXHAUSTIVE SCREENING OF THE 21-HYDROXYLASE GENE IN A POPULATION OF HYPERANDROGENIC WOMEN

      Human genetics
    19. MORNET E; MULLER F; LENVOISEFURET A; DELEZOIDE AL; COL JY; SIMONBOUY B; SERRE JL
      SCREENING OF THE C677T MUTATION ON THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE IN FRENCH PATIENTS WITH NEURAL-TUBE DEFECTS

      Human genetics
    20. MORNET E; SIMONBOUY B
      MOLECULAR-BIOLOGY OF FRAGILE-X SYNDROME - APPLICATIONS TO GENETIC-COUNSELING AND MOLECULAR DIAGNOSIS

      Archives de pediatrie
    21. MORNET E; CHATEAU C; TAILLANDIER A; SIMONBOUY B; SERRE JL
      RECURRENT AND UNEXPECTED SEGREGATION OF THE FMR1 CGG REPEAT IN A FAMILY WITH FRAGILE-X SYNDROME

      Human genetics
    22. BARBAT B; BOGYO A; RAUXDEMAY MC; KUTTENN F; BOUE J; SIMONBOUY B; SERRE JL; BOUE A; MORNET E
      SCREENING OF CYP21 GENE-MUTATIONS IN 129 FRENCH PATIENTS AFFECTED BY STEROID 21-HYDROXYLASE DEFICIENCY

      Human mutation
    23. MORNET E; CHATEAU C; TAILLANDIER A; MONTAGNON M; SIMONBOUY B; SERRE JL; BOUE A
      FRAXAC2 INSTABILITY

      Nature genetics
    24. CLOT F; JAGER M; SIMONBOUY B; SERRE JL; AUPETITFAISANT B; MORNET E
      A POLYMORPHIC POLY-A SEQUENCE IN THE 5' REGION OF THE ALDOSYNTHASE (CYP11B2) GENE MAY BE USEFUL IN GENETIC DIAGNOSIS OF 11-BETA-HYDROXYLASEGENES DEFECTS

      Human genetics
    25. TEJADA MI; MORNET E; TIZZANO E; MOLINA M; BAIGET M; BOUE A
      IDENTIFICATION BY MOLECULAR DIAGNOSIS OF MOSAIC TURNERS-SYNDROME IN AN OBLIGATE CARRIER FEMALE FOR FRAGILE-X SYNDROME

      Journal of Medical Genetics
    26. ROUSSEAU F; HEITZ D; TARLETON J; MACPHERSON J; MALMGREN H; DAHL N; BARNICOAT A; MATHEW C; MORNET E; TEJADA I; MADDALENA A; SPIEGEL R; SCHINZEL A; MARCOS JAG; SCHORDERET DF; SCHAAP T; MACCIONI L; RUSSO S; JACOBS PA; SCHWARTZ C; MANDEL JL
      A MULTICENTER STUDY ON GENOTYPE-PHENOTYPE CORRELATIONS IN THE FRAGILE-X-SYNDROME, USING DIRECT DIAGNOSIS WITH PROBE STB-12.3 - THE FIRST 2,253 CASES

      American journal of human genetics
    27. MORNET E; BOGYO A; DELUCHAT C; SIMONBOUY B; MATHIEU M; THEPOT F; GRISARD MC; LEGUERN E; BOUE J; BOUE A
      MOLECULAR ANALYSIS OF A RING CHROMOSOME-X IN A FAMILY WITH FRAGILE-X SYNDROME

      Human genetics
    28. ROUSSEAU F; HEITZ D; TARLETON J; MACPHERSON J; PETTERSON U; MATHEW C; MORNET E; MADDALENA A; SCHINZEL A; MARCOS JAG; SCHORDERET DF; SCHAAP T; MACCIONI L; RUSSO S; JACOBS PA; SCHWARTZ C; MANDEL JL
      A COLLABORATIVE MULTICENTER STUDY OF DIRECT DIAGNOSIS OF THE FRAGILE-X SYNDROME WITH PROBE STB12.3 - THE 1ST 2253 CASES

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/10/20 alle ore 07:51:33