Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where authors phrase all words ' Peral, B' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 24 riferimenti
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Pujana, MA; Nadal, M; Gratacos, M; Peral, B; Csiszar, K; Gonzalez-Sarmiento, R; Sumoy, L; Estivill, X
      Additional complexity on human chromosome 15q: Identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26

      GENOME RESEARCH
    2. Gratacos, M; Nadal, M; Martin-Santos, R; Pujana, MA; Gago, J; Peral, B; Armengol, L; Ponsa, I; Miro, R; Bulbena, A; Estivill, X
      A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders

      CELL
    3. Rossetti, S; Strmecki, L; Gamble, V; Burton, S; Sneddon, V; Peral, B; Roy, S; Bakkaloglu, A; Komel, R; Winearls, CG; Harris, PC
      Mutation analysis of the entire PKD1 gene: Genetic and diagnostic implications

      AMERICAN JOURNAL OF HUMAN GENETICS
    4. Sumoy, L; Carim, L; Escarceller, M; Nadal, M; Gratacos, M; Pujana, MA; Estivill, X; Peral, B
      HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression

      CYTOGENETICS AND CELL GENETICS
    5. Palou, E; Pirotto, F; Sole, J; Freed, JH; Peral, B; Vilardell, C; Vilella, R; Vives, J; Gaya, A
      Genomic characterization of CD84 reveals the existence of five isoforms differing in their cytoplasmic domains

      TISSUE ANTIGENS
    6. TORRA R; BADENAS C; PERAL B; DARNELL A; SERRA E; GAMBLE V; TURCO AE; HARRIS PC; ESTIVILL X
      RECURRENCE OF THE PKD1 NONSENSE MUTATION Q4041X IN SPANISH, ITALIAN, AND BRITISH FAMILIES

      Human mutation
    7. PERAL B; GAMBLE V; STRONG C; ONG ACM; SLOANESTANLEY J; ZERRES K; WINEARLS CG; HARRIS PC
      IDENTIFICATION OF MUTATIONS IN THE DUPLICATED REGION OF THE POLYCYSTIC-KIDNEY-DISEASE-1 GENE (PKD1) BY A NOVEL-APPROACH

      American journal of human genetics
    8. PERAL B; GAMBLE V; ONG ACM; SANMILLAN JL; HARRIS PC
      MUTATION DEFECTION IN POLYCYSTIC KIDNEY-DISEASE-1 (PKD1) GENE

      Journal of the American Society of Nephrology
    9. TORRA R; BADENAS C; PERAL B; DARNELL A; GAMBLE V; TURCO AE; HARRIS PC; ESTIVILL X
      RECURRENCE OF THE PKD1 NONSENSE MUTATION Q4041X IN SPANISH, ITALIAN AND BRITISH FAMILIES

      Journal of the American Society of Nephrology
    10. PERAL B; ONG ACM; SANMILLAN JL; GAMBLE V; REES L; HARRIS PC
      A STABLE, NONSENSE MUTATION ASSOCIATED WITH A CASE OF INFANTILE ONSETPOLYCYSTIC-KIDNEY-DISEASE-1 (PKD1)

      Human molecular genetics
    11. PERAL B; SANMILLAN JL; ONG ACM; GAMBLE V; WARD CJ; STRONG C; HARRIS PC
      SCREENING THE 3' REGION OF THE POLYCYSTIC-KIDNEY-DISEASE-1 (PKD1) GENE REVEALS 6 NOVEL MUTATIONS

      American journal of human genetics
    12. HUGHES J; WARD CJ; PERAL B; ASPINWALL R; CLARK K; SANMILLAN JL; GAMBLE V; HARRIS PC
      THE POLYCYSTIC KIDNEY-DISEASE-1 (PKD1) GENE ENCODES A NOVEL PROTEIN WITH MULTIPLE CELL RECOGNITION DOMAINS

      Nature genetics
    13. HARRIS PC; WARD CJ; PERAL B; HUGHES J
      POLYCYSTIC KIDNEY-DISEASE .1. IDENTIFICATION AND ANALYSIS OF THE PRIMARY DEFECT

      Journal of the American Society of Nephrology
    14. PERAL B; GAMBLE V; MILLAN JLS; STRONG C; SLOANESTANLEY J; MORENO F; HARRIS PC
      SPLICING MUTATIONS OF THE POLYCYSTIC-KIDNEY-DISEASE-1 (PKD1) GENE INDUCED BY INTRONIC DELETION

      Human molecular genetics
    15. HARRIS PC; WARD CJ; PERAL B; HUGHES J
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - MOLECULAR ANALYSIS

      Human molecular genetics
    16. PERAL B; WARD CJ; SANMILLAN JL; THOMAS S; STALLING RL; MORENO F; HARRIS PC
      MICROSATELLITE POLYMORPHISMS FOR GENETIC DIAGNOSIS OF PKD1 AND TSC2 -EVIDENCE OF LINKAGE DISEQUILIBRIUM IN PKD1

      Cytogenetics and cell genetics
    17. HUGHES J; WARD CJ; SANDFORD R; VAUDIN M; PERAL B; HARRIS PC
      IDENTIFYING FUNCTIONAL MOTIFS IN THE POLYCYSTIC KIDNEY-DISEASE-1 (PKD1) GENE

      American journal of human genetics
    18. SANMILLAN JL; VIRIBAY M; PERAL B; MARTINEZ I; WEISSENBACH J; MORENO F
      REFINING THE LOCALIZATION OF THE PKD2 LOCUS ON CHROMOSOME 4Q BY LINKAGE ANALYSIS IN SPANISH FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE TYPE-2

      American journal of human genetics
    19. BROOKCARTER PT; PERAL B; WARD CJ; THOMPSON P; HUGHES J; MAHESHWAR MM; NELLIST M; GAMBLE V; HARRIS PC; SAMPSON JR
      DELETION OF THE TSC2 AND PKD1 GENES ASSOCIATED WITH SEVERE INFANTILE POLYCYSTIC KIDNEY-DISEASE - A CONTIGUOUS GENE SYNDROME

      Nature genetics
    20. VIRIBAY M; FERREIRA R; PERAL B; BELLO D; WARD CJ; DAVALOS J; VALLE C; HARRIS PC; DELCASTILLO DM; MORENO F; SANMILLAN JL
      GENETIC-ANALYSIS OF CUBAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE KINDREDS USING RFLPS AND MICROSATELLITE POLYMORPHISMS LINKED TO THE PKD1 LOCUS

      Human genetics
    21. WARD CJ; PERAL B; HUGHES J; THOMAS S; GAMBLE V; MACCARTHY AB; SLOANESTANLEY J; BUCKLE VJ; KEARNEY L; HIGGS DR; RATCLIFFE PJ; HARRIS PC; ROELFSEMA JH; SPRUIT L; SARIS JJ; DAUWERSE HG; PETERS DJM; BREUNING MH; NELLIST M; BROOKCARTER PT; MAHESHWAR MM; CORDEIRO I; SANTOS H; CABRAL P; SAMPSON JR; JANSSEN B; HESSELINGJANSSEN ALW; VANDENOUWELAND AMW; EUSSEN B; VERHOEF S; LINDHOUT D; HALLEY DJJ
      THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16

      Cell
    22. PERAL B; WARD CJ; SANMILLAN JL; THOMAS S; STALLINGS RL; MORENO F; HARRIS PC
      EVIDENCE OF LINKAGE DISEQUILIBRIUM IN THE SPANISH POLYCYSTIC KIDNEY-DISEASE-I POPULATION

      American journal of human genetics
    23. NELLIST M; JANSSEN B; BROOKCARTER PT; HESSELINGJANSSEN ALW; MAHESHWAR MM; VERHOEF S; VANDENOUWELAND AMW; LINDHOUT D; EUSSEN B; CORDEIRO I; SANTOS H; HALLEY DJJ; SAMPSON JR; WARD CJ; PERAL B; THOMAS S; HUGHES J; HARRIS PC; ROELFSEMA JH; SARIS JJ; SPRUIT L; PETERS DJM; DAUWERSE JG; BREUNING MH
      IDENTIFICATION AND CHARACTERIZATION OF THE TUBEROUS SCLEROSIS GENE ONCHROMOSOME-16

      Cell
    24. PERAL B; SANMILLAN JL; HERNANDEZ C; VALERO A; LATHROP GM; BECKMANN J; MORENO F
      ESTIMATING LOCUS HETEROGENEITY IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN THE SPANISH POPULATION

      Journal of Medical Genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/21 alle ore 23:50:23