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La ricerca find articoli where soggetti phrase all words 'POLYCYSTIC-KIDNEY-DISEASE-1 PKD1' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 33 riferimenti
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    1. Arnaout, MA
      Molecular genetics and pathogenesis of autosomal dominant polycystic kidney disease

      ANNUAL REVIEW OF MEDICINE
    2. Perrichot, RA; Mercier, B; de Parscau, L; Simon, PM; Cledes, J; Ferec, C
      Inheritance of a stable mutation in a family with early-onset disease

      NEPHRON
    3. Bacolla, A; Jaworski, A; Connors, TD; Wells, RD
      PKD1 unusual DNA conformations are recognized by nucleotide excision repair

      JOURNAL OF BIOLOGICAL CHEMISTRY
    4. 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
    5. Wu, GQ; Somlo, S
      Molecular genetics and mechanism of autosomal dominant polycystic kidney disease

      MOLECULAR GENETICS AND METABOLISM
    6. Trudel, M; Guillaume, R
      Progress in molecular genetics of autosomal dominant polycystic kidney disease

      FRONTIERS IN BIOSCIENCE
    7. Bogdanova, N; McCluskey, M; Sikmann, K; Markoff, A; Todorov, V; Dimitrakov, D; Schiavello, T; Thomas, M; Kalaydjieva, L; Dworniczak, B; Horst, J
      Screening the 3 ' region of the polycystic kidney disease 1 (PKD1) gene in41 Bulgarian and Australian kindreds reveals a prevalance of protein truncating mutations

      HUMAN MUTATION
    8. Perrichot, R; Mercier, B; Quere, I; Carre, A; Simon, P; Whebe, B; Cledes, J; Ferec, C
      Novel mutations in the duplicated region of PKD1 gene

      EUROPEAN JOURNAL OF HUMAN GENETICS
    9. Phakdeekitcharoen, B; Watnick, TJ; Ahn, C; Whang, DY; Burkhart, B; Germino, GG
      Thirteen novel mutations of the replicated region of PKD1 in an Asian population

      KIDNEY INTERNATIONAL
    10. Trudel, M; Guillaume, R
      Molecular biology of autosomal dominant polycystic kidney disease

      PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
    11. Sandford, R; Mulroy, S; Foggensteiner, L
      The polycystins: a novel class of membrane-associated proteins involved inrenal cystic disease

      CELLULAR AND MOLECULAR LIFE SCIENCES
    12. Harris, PC
      Autosomal dominant polycystic kidney disease: clues to pathogenesis

      HUMAN MOLECULAR GENETICS
    13. Thongnoppakhun, W; Wilairat, P; Vareesangthip, K; Yenchitsomanus, P
      Long RT-PCR amplification of the entire coding sequence of the polycystic kidney disease 1 (PKD1) Gene

      BIOTECHNIQUES
    14. Perrichot, RA; Mercier, B; Simon, PM; Whebe, B; Cledes, J; Ferec, C
      DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients

      HUMAN GENETICS
    15. Watnick, T; Germino, GG
      Molecular basis of autosomal dominant polycystic kidney disease

      SEMINARS IN NEPHROLOGY
    16. Ong, ACM; Harris, PC; Davies, DR; Pritchard, L; Rossetti, S; Biddolph, S; Vaux, DJT; Migone, N; Ward, CJ
      Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue

      KIDNEY INTERNATIONAL
    17. Badenas, C; Torra, R; San Millan, JL; Lucero, L; Mila, M; Estivill, X; Darnell, A
      Mutational analysis within the 3 ' region of the PKD1 gene

      KIDNEY INTERNATIONAL
    18. Thomas, R; McConnell, R; Whittacker, J; Kirkpatrick, P; Bradley, J; Sandford, R
      Identification of mutations in the repeated part of the autosomal dominantpolycystic kidney disease type 1 gene, PKD1, by long-range PCR

      AMERICAN JOURNAL OF HUMAN GENETICS
    19. CALVET JP
      MOLECULAR-GENETICS OF POLYCYSTIC KIDNEY-DISEASE

      JN. Journal of nephrology
    20. 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
    21. PEI Y; HE N; WANG KR; KASENDA M; PATERSON AD; CHAN G; LIANG Y; ROSCOE J; BRISSENDEN J; HEFFERTON D; PARFREY P; SOMLO S; STGEORGEHYSLOP P
      A SPECTRUM OF MUTATIONS IN THE POLYCYSTIC KIDNEY DISEASE-2 (PKD2) GENE FROM 8 CANADIAN KINDREDS

      Journal of the American Society of Nephrology
    22. WATNICK TJ; GANDOLPH MA; WEBER H; NEUMANN HPH; GERMINO GG
      GENE CONVERSION IS A LIKELY CAUSE OF MUTATION IN PKD1

      Human molecular genetics (Print)
    23. Murcia, NS; Woychik, RP; Avner, ED
      The molecular biology of polycystic kidney disease

      PEDIATRIC NEPHROLOGY
    24. DANIELLS C; MAHESHWAR M; LAZAROU L; DAVIES F; COLES G; RAVINE D
      NOVEL AND RECURRENT MUTATIONS IN THE PKD1 (POLYCYSTIC KIDNEY-DISEASE)GENE

      Human genetics
    25. TIGHE O; CARMODY M; CROKE DT
      IDENTIFICATION OF A NOVEL PKD1 MUTATION IN AN IRISH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE KINDRED

      Biochemical Society transactions
    26. PEI Y; WANG KR; KASENDA M; PATERSON AD; LIANG Y; HUANG E; LIAN J; ROGOVEA E; SOMLO S; GEORGEHYSLOP PS
      A NOVEL FRAMESHIFT MUTATION INDUCED BY AN ADENOSINE INSERTION IN THE POLYCYSTIC KIDNEY-DISEASE-2 (PKD2) GENE

      Kidney international
    27. HARRIS PC
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - A GENETIC PERSPECTIVE

      Nephrology
    28. SESSA A; GHIGGERI GM; TURCO AE
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - CLINICAL AND GENETIC-ASPECTS

      JN. Journal of nephrology
    29. WATNICK TJ; PIONTEK KB; CORDAL TM; WEBER H; GANDOLPH MA; QIAN F; LENS XM; NEUMANN HPH; GERMINO GG
      AN UNUSUAL PATTERN OF MUTATION IN THE DUPLICATED PORTION OF PKD1 IS REVEALED BY USE OF A NOVEL STRATEGY FOR MUTATION DETECTION

      Human molecular genetics
    30. VIRIBAY M; HAYASHI T; TELLERIA D; MOCHIZUKI T; REYNOLDS DM; ALONSO R; LENS XM; MORENO F; HARRIS PC; SOMLO S; SANMILLAN JL
      NOVEL STOP AND FRAMESHIFTING MUTATIONS IN THE AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE-2 (PKD2) GENE

      Human genetics
    31. WOO DDL; NGUYEN DKP; KHATIBI N; OLSEN P
      GENETIC IDENTIFICATION OF 2 MAJOR MODIFIER LOCI OF POLYCYSTIC KIDNEY-DISEASE PROGRESSION IN PCY MICE

      The Journal of clinical investigation
    32. ROELFSEMA JH; SPRUIT L; SARIS JJ; CHANG P; PIRSON Y; VANOMMEN GJB; PETERS DJM; BREUNING MH
      MUTATION DETECTION IN THE REPEATED PART OF THE PKD1 GENE

      American journal of human genetics
    33. VELDHUISEN B; SARIS JJ; DEHAIJ S; HAYASHI T; REYNOLDS DM; MOCHIZUKI T; ELLES R; FOSSDAL R; BOGDANOVA N; VANDIJK MA; COTO E; RAVINE D; NORBY S; VERELLENDUMOULIN C; BREUNING MH; SOMLO S; PETERS DJM
      A SPECTRUM OF MUTATIONS IN THE 2ND GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (PKD2)

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/06/20 alle ore 06:19:22