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La ricerca find articoli where soggetti phrase all words 'DE-NOVO DELETION' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 21 riferimenti
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    1. Kenneson, A; Warren, ST
      The female and the fragile X reviewed

      SEMINARS IN REPRODUCTIVE MEDICINE
    2. Hegde, MR; Chong, B; Fawkner, M; Lambiris, N; Peters, H; Kenneson, A; Warren, ST; Love, DR; McGaughran, J
      Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification

      JOURNAL OF MEDICAL GENETICS
    3. Wieczorek, D; Krause, M; Majewski, F; Albrecht, B; Horn, D; Riess, O; Gillessen-Kaesbach, G
      Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

      EUROPEAN JOURNAL OF HUMAN GENETICS
    4. Spranger, S; Rommel, B; Jauch, A; Bodammer, R; Mehl, B; Bullerdiek, J
      Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Parvari, R; Mumm, S; Galil, A; Manor, E; Bar-David, Y; Carmi, R
      Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Moore, SJ; Strain, L; Cole, GF; Miedzybrodzka, Z; Kelly, KF; Dean, JCS
      Fragile X syndrome with FMR1 and FMR2 deletion

      JOURNAL OF MEDICAL GENETICS
    7. GRONSKOV K; HALLBERG A; BRONDUMNIELSEN K
      MUTATIONAL ANALYSIS OF THE FMR1 GENE IN 118 MENTALLY-RETARDED MALES SUSPECTED OF FRAGILE-X-SYNDROME - ABSENCE OF PREVALENT MUTATIONS

      Human genetics
    8. DEVRIES BBA; HALLEY DJJ; OOSTRA BA; NIERMEIJER MF
      THE FRAGILE-X-SYNDROME

      Journal of Medical Genetics
    9. WANG YC; LIN ML; LIN SJ; LI YC; LI SY
      NOVEL POINT MUTATION WITHIN INTRON-10 OF FMR-1 GENE CAUSING FRAGILE-X-SYNDROME

      Human mutation
    10. WOLFF DJ; GUSTASHAW KM; ZURCHER V; KO L; WHITE W; WEISS L; VANDYKE DL; SCHWARTZ S; WILLARD HF
      DELETIONS IN XQ26.3-Q27.3 INCLUDING FMR1 RESULT IN A SEVERE PHENOTYPEIN A MALE AND VARIABLE PHENOTYPES IN FEMALES DEPENDING UPON THE X-INACTIVATION PATTERN

      Human genetics
    11. BROWN TC; TARLETON JC; GO RCP; LONGSHORE JW; DESCARTES M
      INSTABILITY OF THE FMR2 TRINUCLEOTIDE REPEAT REGION ASSOCIATED WITH EXPANDED FMR1 ALLELES

      American journal of medical genetics
    12. HAMMOND LS; MACIAS MM; TARLETON JC; PAI GS
      FRAGILE-X-SYNDROME AND DELETIONS IN FMR1 - NEW CASE AND REVIEW OF THELITERATURE

      American journal of medical genetics
    13. HAGERMAN RJ
      FRAGILE-X-SYNDROME - MOLECULAR AND CLINICAL INSIGHTS AND TREATMENT ISSUES

      Western journal of medicine
    14. HANSEN RS; CANFIELD TK; FJELD AD; MUMM S; LAIRD CD; GARTLER SM
      A VARIABLE DOMAIN OF DELAYED REPLICATION IN FRAXA FRAGILE-X CHROMOSOMES - X INACTIVATION-LIKE SPREAD OF LATE REPLICATION

      Proceedings of the National Academy of Sciences of the United Statesof America
    15. GRONSKOV K; HJALGRIM H; BJERAGER MO; BRONDUMNIELSEN K
      DELETION OF ALL CGG REPEATS PLUS FLANKING SEQUENCES IN FMR1 DOES NOT ABOLISH GENE-EXPRESSION

      American journal of human genetics
    16. HAGERMAN RJ
      FRAGILE-X SYNDROME

      Child and adolescent psychiatric clinics of North America
    17. MORNET E; SIMONBOUY B
      MOLECULAR-BIOLOGY OF FRAGILE-X SYNDROME - APPLICATIONS TO GENETIC-COUNSELING AND MOLECULAR DIAGNOSIS

      Archives de pediatrie
    18. SCHMUCKER B; BALLHAUSEN WG; PFEIFFER RA
      MOSAICISM OF A MICRODELETION OF 486-BP INVOLVING THE CGG REPEAT OF THE FMR1 GENE DUE TO MISALIGNMENT OF GTT TANDEM REPEATS AT CHI-LIKE ELEMENTS FLANKING BOTH BREAKPOINTS AND A FULL MUTATION

      Human genetics
    19. MANNERMAA A; PULKKINEN L; KAJANOJA E; RYYNANEN M; SAARIKOSKI S
      DELETION IN THE FMR1 GENE IN A FRAGILE-X MALE

      American journal of medical genetics
    20. SUBRAMANIAN PS; NELSON DL; CHINAULT AC
      LARGE DOMAINS OF APPARENT DELAYED REPLICATION TIMING ASSOCIATED WITH TRIPLET REPEAT EXPANSION AT FRAXA AND FRAXE

      American journal of human genetics
    21. SCHEUERLE A; ZENGERHAIN JL; VANDYKE DL; LEDBETTER DH; GREENBERG F; SHAFFER LG
      REPLICATION BANDING AND MOLECULAR STUDIES OF A MOSAIC, UNBALANCED DIC(X-15)(XPTER-]XQ26.1 /15P11-]15QTER)/

      American journal of medical genetics


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Documento generato il 29/02/20 alle ore 03:08:40