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    1. Stefan, M; Stefanescu, G; Gavrila, L; Terrenato, L; Jobling, MA; Malaspina, P; Novelletto, A
      Y chromosome analysis reveals a sharp genetic boundary in the Carpathian region

      EUROPEAN JOURNAL OF HUMAN GENETICS
    2. Vernesi, C; Di Benedetto, G; Caramelli, D; Secchieri, E; Simoni, L; Katti, E; Malaspina, P; Novelletto, A; Marin, VTW; Barbujani, G
      Genetic characterization of the body attributed to the evangelist Luke

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    3. Malaspina, P; Tsopanomichalou, M; Duman, T; Stefan, M; Silvestri, A; Rinaldi, B; Garcia, O; Giparaki, M; Plata, E; Kozlov, AI; Barbujani, G; Vernesi, C; Papola, F; Ciavarella, G; Kovatchev, D; Kerimova, MG; Anagnou, N; Gavrila, L; Veneziano, L; Akar, N; Loutradis, A; Michalodimitrakis, EN; Terrenato, L; Novelletto, A
      A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area

      ANNALS OF HUMAN GENETICS
    4. Torroni, A; Bandelt, HJ; Macaulay, V; Richards, M; Cruciani, F; Rengo, C; Martinez-Cabrera, V; Villems, R; Kivisild, T; Metspalu, E; Parik, JR; Tolk, HV; Tambets, K; Forster, P; Karger, B; Francalacci, P; Rudan, P; Janicijevic, B; Rickards, O; Savontaus, ML; Huoponen, K; Laitinen, V; Koivumaki, S; Sykes, B; Hickey, E; Novelletto, A; Moral, P; Sellitto, D; Coppa, A; Al-Zaheri, N; Santachiara-Benerecetti, AS; Semino, O; Scozzari, R
      A signal, from human mtDNA, of postglacial recolonization in Europe

      AMERICAN JOURNAL OF HUMAN GENETICS
    5. Squitieri, F; Maglione, V; Buzzi, MG; Nargi, E; Novelletto, A; Cannella, M; Simonelli, M; Colonnese, C; Simonelli, P; Innocenzi, G; Gagliardi, FM; Caruso, R; Ragona, G; Cantore, GP
      Cavernous angiomas of the nervous system in Italy: clinical and genetic study

      NEUROLOGICAL SCIENCES
    6. Santos, FR; Pandya, A; Kayser, M; Mitchell, RJ; Liu, AP; Singh, L; Destro-Bisol, G; Novelletto, A; Qamar, R; Mehdi, SQ; Adhikari, R; de Knijff, P; Tyler-Smith, C
      A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome

      HUMAN MOLECULAR GENETICS
    7. Squitieri, F; Sabbadini, G; Mandich, P; Gellera, C; Di Maria, E; Bellone, E; Castellotti, B; Nargi, E; de Grazia, U; Frontali, M; Novelletto, A
      Family and molecular data for a fine analysis of age at onset in Huntington disease

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Malaspina, P; Cruciani, F; Santolamazza, P; Torroni, A; Pangrazio, A; Akar, N; Bakalli, V; Brdicka, R; Jaruzelska, J; Kozlov, A; Malyarchuk, B; Mehdi, SQ; Michalodimitrakis, E; Varesi, L; Memmi, MM; Vona, G; Villems, R; Parik, J; Romano, V; Stefan, M; Stenico, M; Terrenato, L; Novelletto, A; Scozzari, R
      Patterns of male-specific inter-population divergence in Europe, West Asiaand North Africa

      ANNALS OF HUMAN GENETICS
    9. Richards, M; Macaulay, V; Hickey, E; Vega, E; Sykes, B; Guida, V; Rengo, C; Sellitto, D; Cruciani, F; Kivisild, T; Villems, R; Thomas, M; Rychkov, S; Rychkov, O; Rychkov, Y; Golge, M; Dimitrov, D; Hill, E; Bradley, D; Romano, V; Cali, F; Vona, G; Demaine, A; Papiha, S; Triantaphyllidis, C; Stefanescu, G; Hatina, J; Belledi, M; Di Rienzo, A; Novelletto, A; Oppenheim, A; Norby, S; Al-Zaheri, N; Santachiara-Benerecetti, S; Scozzari, R; Torroni, A; Bandelt, HJ
      Tracing European founder lineages in the near eastern mtDNA pool

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. Frontali, M; Novelletto, A; Annesi, G; Jodice, C
      CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci

      PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES
    11. Scozzari, R; Cruciani, F; Santolamazza, P; Malaspina, P; Torroni, A; Sellitto, D; Arredi, B; Destro-Bisol, G; De Stefano, G; Rickards, O; Martinez-Labarga, C; Modiano, D; Biondi, G; Moral, P; Olckers, A; Wallace, DC; Novelletto, A
      Combined use of biallelic and microsatellite Y-chromosome polymorphisms toinfer affinities among African populations

      AMERICAN JOURNAL OF HUMAN GENETICS
    12. MANDICH P; JACOPINI G; DIMARIA E; SABBADINI G; ABBRUZZESE G; CHIMIRRI F; BELLONE E; NOVELLETTO A; AJMAR F; FRONTALI M
      PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS (VOL 19, PG 68, 1998)

      Italian journal of neurological sciences
    13. MANDICH P; JACOPINI G; DIMARIA E; SABBADINI G; CHIMIRRI F; BELLONE E; NOVELLETTO A; AJMAR F; FRONTALI M
      PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS

      Italian journal of neurological sciences
    14. SQUITIERI F; GELLERA C; RUGGIERI S; CASTELLOTTI B; FRONTALI M; MANDICH P; NACMIAS B; DELSENNO L; RAGONA G; DIDONATO P; AJMAR F; FRATI L; NOVELLETTO A
      A MODEL TO PREDICT THE ONSET AGE IN UNAFFECTED HUNTINGTONS-DISEASE MUTATION CARRIERS

      Annals of neurology
    15. MALASPINA P; CRUCIANI F; CIMINELLI BM; TERRENATO L; SANTOLAMAZZA P; ALONSO A; BANYKO J; BRDICKA R; GARCIA O; GAUDIANO C; GUANTI G; KIDD KK; LAVINHA J; AVILA M; MANDICH P; MORAL P; QAMAR R; MEHDI SQ; RAGUSA A; SEFANESCU G; CARAGHIN M; TYLERSMITH C; SCOZZARI R; NOVELLETTO A
      NETWORK ANALYSES OF Y-CHROMOSOMAL TYPES IN EUROPE, NORTHERN AFRICA, AND WESTERN ASIA REVEAL SPECIFIC PATTERNS OF GEOGRAPHIC-DISTRIBUTION

      American journal of human genetics
    16. CHAMBLISS KL; HINSON DD; TRETTEL F; MALASPINA P; NOVELLETTO A; JAKOBS C; GIBSON KM
      2 EXON-SKIPPING MUTATIONS AS THE MOLECULAR-BASIS OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY (4-HYDROXYBUTYRIC ACIDURIA)

      American journal of human genetics
    17. GIOVANNONE B; SABBADINI G; DIMAIO L; CALABRESE O; CASTALDO I; FRONTALI M; NOVELLETTO A; SQUITIERI F
      ANALYSIS OF (CAG)N SIZE HETEROGENEITY IN SOMATIC AND SPERM CELL-DNA FROM INTERMEDIATE AND EXPANDED HUNTINGTON-DISEASE GENE CARRIERS

      Human mutation
    18. CAGLIA A; NOVELLETTO A; DOBOSZ M; MALASPINA P; CIMINELLI BM; PASCALI VL
      Y-CHROMOSOME STR LOCI IN SARDINIA AND CONTINENTAL ITALY REVEAL ISLANDER-SPECIFIC HAPLOTYPES

      European journal of human genetics
    19. MCNEIL SM; NOVELLETTO A; SRINIDHI J; BARNES G; KORNBLUTH I; ALTHERR MR; WASMUTH JJ; GUSELLA JF; MACDONALD ME; MYERS RH
      REDUCED PENETRANCE OF THE HUNTINGTONS-DISEASE MUTATION

      Human molecular genetics
    20. SQUITIERI F; GIOVANNONE B; SABBADINI G; FRONTALI M; NOVELLETTO A; DIMAIO L; CALABRESE O; CASTALDO I; CAMPANELLA G
      ANALYSIS OF (CAG)N SIZE HETEROGENEITY IN DNA FROM SOMATIC AND GERM-CELLS OF NORMAL, INTERMEDIATE AND EXPANDED HUNTINGTON DISEASE GENE CARRIERS

      Neurology
    21. MALASPINA P; CIMINELLI BM; VIGGIANO L; JODICE C; CRUCIANI F; SANTOLAMAZZA P; SELLITTO D; SCOZZARI R; TERRENATO L; ROCCHI M; NOVELLETTO A
      CHARACTERIZATION OF A SMALL FAMILY (CAIII) OF MICROSATELLITE-CONTAINING SEQUENCES WITH X-Y HOMOLOGY

      Journal of molecular evolution
    22. HAMMER MF; SPURDLE AB; KARAFET T; BONNER MR; WOOD ET; NOVELLETTO A; MALASPINA P; MITCHELL RJ; HORAI S; JENKINS T; ZEGURA SL
      THE GEOGRAPHIC-DISTRIBUTION OF HUMAN Y-CHROMOSOME VARIATION

      Genetics
    23. JODICE C; GIOVANNONE B; CALABRESI V; BELLOCCHI M; TERRENATO L; NOVELLETTO A
      POPULATION VARIATION ANALYSIS AT 9 LOCI CONTAINING EXPRESSED TRINUCLEOTIDE REPEATS

      Annals of Human Genetics
    24. SCOZZARI R; CRUCIANI F; MALASPINA P; SANTOLAMAZZA P; CIMINELLI BM; TORRONI A; MODIANO D; WALLACE DC; KIDD KK; OLCKERS A; MORAL P; TERRENATO L; AKAR N; QAMAR R; MANSOOR A; MEHDI SQ; MELONI G; VONA G; COLE DEC; CAI WW; NOVELLETTO A
      DIFFERENTIAL STRUCTURING OF HUMAN-POPULATIONS FOR HOMOLOGOUS-X AND HOMOLOGOUS-Y MICROSATELLITE LOCI

      American journal of human genetics
    25. TRETTEL F; MALASPINA P; BLASI P; JODICE C; NOVELLETTO A; SABBADINI G; VENEZIANO L; FRONTALI M; TERRENATO L
      ORDERING OF 44 GENETIC-MARKERS IN THE 6P22 CYTOGENETIC BAND

      DNA sequence
    26. GUSELLA JF; MCNEIL S; PERSICHETTI F; SRINIDHI J; NOVELLETTO A; BIRD E; FABER P; VONSATTEL JP; MYERS RH; MACDONALD ME
      HUNTINGTONS-DISEASE

      Cold Spring Harbor Symposia on Quantitative Biology
    27. FRONTALI M; SABBADINI G; NOVELLETTO A; JODICE C; NASO F; SPADARO M; GIUNTI P; JACOPINI AG; VENEZIANO L; MANTUANO E; MALASPINA P; ULIZZI L; BRICE A; DURR A; TERRENATO L
      GENETIC FITNESS IN HUNTINGTONS-DISEASE AND SPINOCEREBELLAR ATAXIA-1 -A POPULATION-GENETICS MODEL FOR CAG REPEAT EXPANSIONS

      Annals of Human Genetics
    28. RUBINSZTEIN DC; LEGGO J; COLES R; ALMQVIST E; BIANCALANA V; CASSIMAN JJ; CHOTAI K; CONNARTY M; CRAUFURD D; CURTIS A; CURTIS D; DAVIDSON MJ; DIFFER AM; DODE C; DODGE A; FRONTALI M; RANEN NG; STINE OC; SHERR M; ABBOTT MH; FRANZ ML; GRAHAM CA; HARPER PS; HEDREEN JC; JACKSON A; KAPLAN JC; LOSEKOOT M; MACMILLAN JC; MORRISON P; TROTTIER Y; NOVELLETTO A; SIMPSON SA; THEILMANN J; WHITTAKER JL; FOLSTEIN SE; ROSS CA; HAYDEN MR
      PHENOTYPIC CHARACTERIZATION OF INDIVIDUALS WITH 30-40 CAG REPEATS IN THE HUNTINGTON DISEASE (HD) GENE REVEALS HD CASES WITH 36 REPEATS AND APPARENTLY NORMAL ELDERLY INDIVIDUALS WITH 36-39 REPEATS

      American journal of human genetics
    29. DELEO R; DEIDDA G; NOVELLETTO A; ELKALLA S; MATHEWS AR; FELICETTI L
      ANALYSIS OF BETA-THALASSEMIA MUTATIONS IN THE UNITED-ARAB-EMIRATES PROVIDES EVIDENCE FOR RECURRENT ORIGIN OF THE IVSI NT-5 (G-C) MUTATION

      Human mutation
    30. CIMINELLI BM; POMPEI F; MALASPINA P; HAMMER M; PERSICHETTI F; PIGNATTI P; PALENA A; ANAGNOU N; GUANTI G; JODICE C; TERRENATO L; NOVELLETTO A
      RECURRENT SIMPLE TANDEM REPEAT MUTATIONS DURING HUMAN Y-CHROMOSOME RADIATION IN CAUCASIAN SUBPOPULATIONS

      Journal of molecular evolution
    31. BOZZA A; MALAGU S; CALZOLARI E; NOVELLETTO A; PAVONI M; DELSENNO L
      EXPANSION OF A (CAG)N REPEAT REGION IN A SPORADIC CASE OF HD

      Acta neurologica Scandinavica
    32. NOVELLETTO A; PERSICHETTI F; SABBADINI G; MANDICH P; BELLONE E; AJMAR F; SQUITIERI F; CAMPANELLA G; BOZZA A; MACDONALD ME; GUSELLA JF; FRONTALI M
      POLYMORPHISM ANALYSIS OF THE HUNTINGTIN GENE IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE

      Human molecular genetics
    33. NOVELLETTO A; PERSICHETTI F; SABBADINI G; MANDICH P; BELLONE E; AJMAR F; PERGOLA M; DELSENNO L; MACDONALD ME; GUSELLA JF; FRONTALI M
      ANALYSIS OF THE TRINUCLEOTIDE REPEAT EXPANSION IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE

      Human molecular genetics
    34. HARDING AE; GIUNTI P; SWEENEY MG; SPADARO M; JODICE C; NOVELLETTO A; MALASPINA P; FRONTALI M
      TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS

      Annals of neurology
    35. CACURRI S; DEIDDA G; PIAZZO N; NOVELLETTO A; LACESA I; SERVIDEI S; GALLUZZI G; WIJMENGA C; FRANTS RR; FELICETTI L
      CHROMOSOME 4Q35 HAPLOTYPES AND DNA REARRANGEMENTS SEGREGATING IN AFFECTED SUBJECTS OF 19 ITALIAN FAMILIES WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)

      Human genetics
    36. GIUNTI P; SWEENEY MG; SPADARO M; JODICE C; NOVELLETTO A; MALASPINA P; FRONTALI M; HARDING AE
      THE TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS

      Brain
    37. JODICE C; MALASPINA P; PERSICHETTI F; NOVELLETTO A; SPADARO M; GIUNTI P; MOROCUTTI C; TERRENATO L; HARDING AE; FRONTALI M
      EFFECT OF TRINUCLEOTIDE REPEAT LENGTH AND PARENTAL SEX ON PHENOTYPIC VARIATION IN SPINOCEREBELLAR ATAXIA-I

      American journal of human genetics
    38. DUYAO M; AMBROSE C; MYERS R; NOVELLETTO A; PERSICHETTI F; FRONTALI M; FOLSTEIN S; ROSS C; FRANZ M; ABBOTT M; GRAY J; CONNEALLY P; YOUNG A; PENNEY J; HOLLINGSWORTH Z; SHOULSON I; LAZZARINI A; FALEK A; KOROSHETZ W; SAX D; BIRD E; VONSATTEL J; BONILLA E; ALVIR J; CONDE JB; CHA JH; DURE L; GOMEZ F; RAMOS M; SANCHEZRAMOS J; SNODGRASS S; DEYOUNG M; WEXLER N; MOSCOWITZ C; PENCHASZADEH G; MACFARLANE H; ANDERSON M; JENKINS B; SRINIDHI J; BARNES G; GUSELLA J; MACDONALD M
      TRINUCLEOTIDE REPEAT LENGTH INSTABILITY AND AGE-OF-ONSET IN HUNTINGTONS-DISEASE

      Nature genetics
    39. JODICE C; FRONTALI M; PERSICHETTI F; NOVELLETTO A; PANDOLFO M; SPADARO M; GIUNTI P; SCHINAIA G; LULLI P; MALASPINA P; PLASMATI R; TOLA R; ANTONELLI A; DIDONATO S; MOROCUTTI C; WEISSENBACH J; CANN HM; TERRENATO L
      THE GENE FOR SPINAL CEREBELLAR ATAXIA-1 (SCA1) IS FLANKED BY 2 CLOSELY LINKED HIGHLY POLYMORPHIC MICROSATELLITE LOCI

      Human molecular genetics
    40. DUYAO MP; AMBROSE CM; MYERS RH; NOVELLETTO A; PERSICHETTI E; BARNES G; SRINIDHI J; BIRD E; VONSATTEL JP; MACDONALD ME; GUSELLA JF
      TRINUCLEOTIDE REPEAT LENGTH - INSTABILITY AND AGE-OF-ONSET IN HUNTINGTONS-DISEASE

      American journal of human genetics
    41. KWIATKOWSKI TJ; ORR HT; BANFI S; MCCALL AE; JODICE C; PERSICHETTI F; NOVELLETTO A; LEBORGNEDEMARQUOY F; DUVICK LA; FRONTALI M; SUBRAMONY SH; BEAUDET AL; TERRENATO L; ZOGHBI HY; RANUM LPW
      THE GENE FOR AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATAXIA (SCA1) MAPS CENTROMERIC TO D6S89 AND SHOWS NO RECOMBINATION, IN 9 LARGE KINDREDS, WITH A DINUCLEOTIDE REPEAT AT THE AM10 LOCUS

      American journal of human genetics


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Documento generato il 21/10/20 alle ore 06:52:42