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    1. Mizoguchi, M; Tamura, T; Yamaki, A; Higashihara, E; Shimizu, Y
      Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family

      JOURNAL OF HUMAN GENETICS
    2. Deltas, CC
      Mutations of the human polycystic kidney disease 2 (PKD2) gene

      HUMAN MUTATION
    3. Shan, YS; Lee, PC; Sy, ED; Hung, CJ; Lin, YJ
      Polycystic kidney patient as a cadaveric donor: is it appropriate?

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    4. Weston, BS; Bagneris, C; Price, RG; Stirling, JL
      The polycystin-1 C-type lectin domain binds carbohydrate in a calcium-dependent manner, and interacts with extracellular matrix proteins in vitro

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    5. Sotirakopoulos, N; Tsitios, T; Stambolidou, M; Cristodoulidou, C; Spaia, S; Mavromatidis, K
      Anticipation of end stage renal disease in patients with autosomal dominant polycystic kidney disease in successive generations

      RENAL FAILURE
    6. Bardaji, A; Martinez-Vea, A; Valero, A; Gutierrez, C; Garcia, C; Ridao, C; Oliver, JA; Richart, C
      Cardiac involvement in autosomal-dominant polycystic kidney disease: a hypertensive heart disease

      CLINICAL NEPHROLOGY
    7. Tanner, GA; Tanner, JA
      Chronic caffeine consumption exacerbates hypertension in rats with polycystic kidney disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    8. Belz, MM; Hughes, RL; Kaehny, WD; Johnson, AM; Fick-Brosnahan, GM; Earnest, MP; Gabow, PA
      Familial clustering of ruptured intracranial aneurysms in autosomal dominant polycystic kidney disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    9. Holthouse, D; Wong, D
      Chronic subdural hematoma in a 50-year-old man with polycystic kidney disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    10. Chatha, RK; Johnson, AM; Rothberg, PG; Townsend, RR; Neumann, HPH; Gabow, PA
      Von Hippel-Lindau disease masquerading as autosomal dominant polycystic kidney disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    11. Bajwa, ZH; Gupta, S; Warfield, CA; Steinman, TI
      Pain management in polycystic kidney disease

      KIDNEY INTERNATIONAL
    12. 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
    13. Malhas, AN; Abuknesha, RA; Price, RG
      Polycystin-1: immunoaffinity isolation and characterisation by mass spectrometry

      FEBS LETTERS
    14. Lee, JG; Lee, KB; Kim, UK; Ahn, C; Hwang, DY; Hwang, YH; Eo, HS; Lee, EJ; Kim, YS; Han, JS; Kim, S; Lee, JS
      Genetic heterogeneity in Korean families with autosomal-dominant polycystic kidney disease (ADPKD): the first Asian report

      CLINICAL GENETICS
    15. Wu, GQ; Somlo, S
      Molecular genetics and mechanism of autosomal dominant polycystic kidney disease

      MOLECULAR GENETICS AND METABOLISM
    16. 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
    17. Ong, ACM
      Polycystin expression in the kidney and other tissues: Complexity, consensus and controversy

      EXPERIMENTAL NEPHROLOGY
    18. Nicolau, C; Torra, R; Badenas, C; Perez, L; Oliver, JA; Darnell, A; Bru, C
      Sonographic pattern of recessive polycystic kidney disease in young adults. Differences from the dominant form

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    19. De Toma, G; Plocco, M; Nicolanti, V
      Association of multiple aneurysms and kidney and liver cyst disease

      PRESSE MEDICALE
    20. Kraatz, G; Devantier, A; Ahrendt, S; Guth, HJ; Kraatz, U
      Cardiovascular complications in autosomal dominant polycystic kidney disease

      NIEREN-UND HOCHDRUCKKRANKHEITEN
    21. Torra, R; Badenas, C; Perez-Oller, L; Luis, J; Millan, S; Nicolau, C; Oppenheimer, F; Mila, M; Darnell, A
      Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients

      AMERICAN JOURNAL OF KIDNEY DISEASES
    22. Ecder, T; Edelstein, CL; Fick-Brosnahan, GM; Johnson, AM; Duley, IT; Gabow, PA; Schrier, RW
      Progress in blood pressure control in autosomal dominant polycystic kidneydisease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    23. Grampsas, SA; Chandhoke, PS; Fan, J; Glass, MA; Townsend, R; Johnson, AM; Gabow, P
      Anatomic and metabolic risk factors for nephrolithiasis in patients with autosomal dominant polycystic kidney disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    24. Ishikawa, I; Maeda, K; Nakai, S; Kawaguchi, Y
      Gender difference in the mean age at the induction of hemodialysis in patients with autosomal dominant polycystic kidney disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    25. Ecder, T; Chapman, AB; Brosnahan, GM; Edelstein, CL; Johnson, AM; Schrier, RW
      Effect of antihypertensive therapy on renal function and urinary albumin excretion in hypertensive patients with autosomal dominant polycystic kidneydisease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    26. Freedman, BI; Soucie, JM; Chapman, A; Krisher, J; McClellan, WM
      Racial variation in autosomal dominant polycystic kidney disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    27. Wijdicks, EFM; Torres, VE; Schievink, WI
      Chronic subdural hematoma in autosomal dominant polycystic kidney disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    28. 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
    29. Yamaguchi, T; Pelling, JC; Ramaswamy, NT; Eppler, JW; Wallace, DP; Nagao, S; Rome, LA; Sullivan, LP; Grantham, JJ
      cAMP stimulates the in vitro proliferation of renal cyst epithelial cells by activating the extracellular signal-regulated kinase pathway

      KIDNEY INTERNATIONAL
    30. Grande, JP
      Polycystin: From structure to function

      KIDNEY INTERNATIONAL
    31. Charron, AJ; Nakamura, S; Bacallao, R; Wandinger-Ness, A
      Compromised cytoarchitecture and polarized trafficking in autosomal dominant polycystic kidney disease cells

      JOURNAL OF CELL BIOLOGY
    32. Pey, R; Bach, J; Schieren, G; Gretz, N; Hafner, M
      A new in vitro bioassay for cyst formation by renal cells from an autosomal dominant rat model of polycystic kidney disease

      IN VITRO CELLULAR & DEVELOPMENTAL BIOLOGY-ANIMAL
    33. Veldhuisen, B; Spruit, L; Dauwerse, HG; Breuning, MH; Peters, DJM
      Genes homologous to the autosomal dominant polycystic kidney disease genes(PKD1 and PKD2)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    34. Kim, UK; Shin, JH; Lee, KB; Kim, SH; Chae, JJ; Hong, SS; Jin, DK; Namkoong, Y; Lee, CC
      Polymorphisms in the human autosomal dominant polycystic kidney disease 2 (PKD2) gene

      MOLECULAR AND CELLULAR PROBES
    35. Afzal, AR; Hand, M; Ternes-Pereira, E; Saggar-Malik, A; Taylor, R; Jeffery, S
      Novel mutations in the 3 ' region of the polycystic kidney disease 1 (PKD1) gene

      HUMAN GENETICS
    36. Sharp, CK; Zeligman, BE; Johnson, AM; Duley, I; Gabow, PA
      Evaluation of colonic diverticular disease in autosomal dominant polycystic kidney disease without end-stage renal disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    37. Ubara, Y; Katori, H; Tagami, T; Tanaka, S; Yokota, M; Matsushita, Y; Takemoto, F; Imai, T; Inoue, S; Kuzuhara, K; Hara, S; Yamada, A
      Transcatheter renal arterial embolization therapy on a patient with polycystic kidney disease on hemodialysis

      AMERICAN JOURNAL OF KIDNEY DISEASES
    38. Aguiari, G; Manzati, E; Penolazzi, L; Micheletti, F; Augello, G; Vitali, ED; Cappelli, G; Cai, YQ; Reynolds, D; Somlo, S; Piva, R; del Senno, L
      Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells

      AMERICAN JOURNAL OF KIDNEY DISEASES
    39. Cebulska-Wasilewska, A; Niedzwiedz, W; Wierzewska, A; Nowak, D; Moszczynski, P; Zabinski, Z
      Monitoring of molecular and cytogenetic damage in lymphocytes from three persons with polycystic kidney disease

      ARCHIVES OF MEDICAL RESEARCH
    40. 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
    41. Torra, P; Viribay, M; Telleria, D; Badenas, C; Watson, M; Harris, P; Darnell, A; San Millan, JL
      Seven novel mutations of the PKD2 gene in families with autosomal dominantpolycystic kidney disease

      KIDNEY INTERNATIONAL
    42. Hateboer, N; Lazarou, LP; Williams, AJ; Holmans, P; Ravine, D
      Familial phenotype differences in PKD1

      KIDNEY INTERNATIONAL
    43. Guay-Woodford, LM
      Phenotypic variability in PKD1: The family as a starting point

      KIDNEY INTERNATIONAL
    44. Murcia, NS; Sweeney, WE; Avner, ED
      New insights into the molecular pathophysiology of polycystic kidney disease

      KIDNEY INTERNATIONAL
    45. 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
    46. Mora, C; Navarro, JF; Garcia, J; Gallego, E; Macia, M; Mendez, ML; Chahin, J; Rivero, A
      Autosomal dominant polycystic kidney disease associated with familial sensorineural deafness

      SCANDINAVIAN JOURNAL OF UROLOGY AND NEPHROLOGY
    47. Peters, DJM; Van de Wal, A; Spruit, L; Saris, JJ; Breuning, MH; Bruijn, JA; De Heer, E
      Cellular localization and tissue distribution of polycystin-1

      JOURNAL OF PATHOLOGY
    48. O'Leary, CA; Mackay, BM; Malik, R; Edmondston, JE; Robinson, WF; Huxtable, CR
      Polycystic kidney disease in Bull Terriers: an autosomal dominant inherited disorder

      AUSTRALIAN VETERINARY JOURNAL
    49. 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
    50. TIGHE O; CARMODY M; CROKE DT
      IDENTIFICATION OF A NOVEL PKD1 MUTATION IN AN IRISH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE KINDRED

      Biochemical Society transactions
    51. Marsick, R; Limwongse, C; Kodish, E
      Genetic testing for renal diseases: Medical and ethical considerations

      AMERICAN JOURNAL OF KIDNEY DISEASES
    52. PATERSON AD; PEI Y
      IS THERE A 3RD GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Kidney international
    53. 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
    54. FLISER D; PACINI G; ENGELLEITER R; KAUTZKYWILLER A; PRAGER R; FRANEK E; RITZ E
      INSULIN-RESISTANCE AND HYPERINSULINEMIA ARE ALREADY PRESENT IN PATIENTS WITH INCIPIENT RENAL-DISEASE

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

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

      JN. Journal of nephrology
    57. XENOPHONTOS S; CONSTANTINIDES R; HAYASHI T; MOCHIZUKI T; SOMLO S; PIERIDES A; DELTAS CC
      A TRANSLATION FRAMESHIFT MUTATION INDUCED BY A CYTOSINE INSERTION IN THE POLYCYSTIC-KIDNEY-DISEASE-2 GENE (PKD2)

      Human molecular genetics
    58. HARTUNG R; HUMBSCH A; STEIN G; FLECK C
      INFLUENCE OF AN EXTRACELLULAR VOLUME EXPANSION (ECVE) ON RENAL AMINO-ACID-HANDLING AND SODIUM HANDLING IN PATIENTS WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD)

      Amino acids
    59. HADIMERI H; NORDEN G; FRIMAN S; NYBERG G
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE IN A KIDNEY-TRANSPLANT POPULATION

      Nephrology, dialysis, transplantation
    60. KRAATZ G
      FACTORS OF PROGRESSION IN POLYCYSTIC KIDN EY-DISEASE AND THEIR THERAPY

      Nieren- und Hochdruckkrankheiten
    61. BOZZA A; AGUIARI G; SCAPOLI C; SCALIA P; PERINI L; VITALI ED; DELSENNO L
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE LINKED TO PKD2 LOCUS IN A FAMILY WITH SEVERE EXTRARENAL MANIFESTATIONS

      American journal of nephrology
    62. TORRA R; BADENAS C; DARNELL A; BRU C; ESCORSELL A; ESTIVILL X
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE WITH ANTICIPATION AND CAROLIS-DISEASE ASSOCIATED WITH A PKD1 MUTATION

      Kidney international
    63. TAKAHASHI M; TSUCHIYA K; KOMATSU Y; NIHEI H
      A ROLE FOR NA K ADENOSINE-TRIPHOSPHATASE IN THE PATHOGENESIS OF CYST FORMATION IN EXPERIMENTAL POLYCYSTIC KIDNEY-DISEASE/

      The Journal of laboratory and clinical medicine
    64. WESTON BS; JEFFERY S; JEFFREY J; SHARAF SFA; CARTER N; SAGGARMALIK A; PRICE RG
      POLYCYSTIN EXPRESSION DURING EMBRYONIC-DEVELOPMENT OF HUMAN KIDNEY INADULT TISSUES AND ADPKD TISSUE

      Histochemical Journal
    65. TORRA R; NICOLAU C; BADENAS C; BRU C; PEREZ L; ESTIVILL X; DARNELL A
      ABDOMINAL AORTIC-ANEURYSMS AND AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Journal of the American Society of Nephrology
    66. HUSTON J; TORRES VE; WIEBERS DO; SCHIEVINK WI
      FOLLOW-UP OF INTRACRANIAL ANEURYSMS IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE BY MAGNETIC-RESONANCE ANGIOGRAPHY

      Journal of the American Society of Nephrology
    67. LANOIX J; DAGATI V; SZABOLCS M; TRUDEL M
      DYSREGULATION OF CELLULAR PROLIFERATION AND APOPTOSIS MEDIATES HUMAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD)

      Oncogene
    68. ROELFSEMA JH; PETERS DJM; BREUNING MH
      DETECTION OF TRANSLATION TERMINATING MUTATIONS IN THE PKD1 GENE

      Nephrology, dialysis, transplantation
    69. TURCO AE; ROSSETTI S; BRESIN E; CORRA S; RESTAGNO G; CARBONARA A; DEPRISCO O; GAMMARO L; MASCHIO G; PIGNATTI PF
      DETECTION OF 2 DIFFERENT NONSENSE MUTATIONS IN EXON-44 OF THE PKD1 GENE IN 2 UNRELATED ITALIAN FAMILIES WITH SEVERE AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Nephrology, dialysis, transplantation
    70. VELDHUISEN B; BREUNING MH; WESBYVANSWAAY E; BOERSMA J; PETERS DJM
      ANALYSIS OF A LARGE FAMILY WITH THE 2ND TYPE OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Nephrology, dialysis, transplantation
    71. GONZALO A; GALLEGO A; SANMILLAN JL; ORTUNO J
      ANTICIPATION OF END-STAGE RENAL-DISEASE IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Nephrology, dialysis, transplantation
    72. PIRSON Y; CHRISTOPHE JL; GOFFIN E
      OUTCOME OF RENAL REPLACEMENT THERAPY IN AUTOSOMAL-DOMINANT POLYCYSTICKIDNEY-DISEASE

      Nephrology, dialysis, transplantation
    73. BRESIN E; ROSSETTI S; ENGLISCH S; CORRA S; PIGNATTI PF; TURCO AE
      A COMMON POLYMORPHISM IN EXON-46 OF THE HUMAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE-1 GENE (PKD1)

      Molecular and cellular probes
    74. MURRAY SL; GRUBMAN SA; PERRONE RD; ROJKIND M; MOY E; LEE DW; JEFFERSON DM
      MATRIX METALLOPROTEINASE ACTIVITY IN HUMAN INTRAHEPATIC BILIARY EPITHELIAL-CELL LINES FROM PATIENTS WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Connective tissue research
    75. ROSSETTI S; BRESIN E; RESTAGNO G; CARBONARA A; CORRA S; DEPRISCO O; PIGNATTI PF; TURCO AE
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN AN ITALIAN FAMILY CARRYING A NOVEL NONSENSE MUTATION AND 2 MISSENSE CHANGES IN EXON-44 AND EXON-45 OF THE PKD1 GENE

      American journal of medical genetics
    76. DELTAS CC; CHRISTODOULOU K; TJAKOURI C; PIERIDES A
      PRESYMPTOMATIC MOLECULAR DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE USING PKD1-LINKED AND PKD2-LINKED MARKERS IN CYPRIOT FAMILIES

      Clinical genetics
    77. 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
    78. VANACKER BAC; KOOMEN GCM; ARISZ L
      DRAWBACKS OF THE CONSTANT-INFUSION TECHNIQUE FOR MEASUREMENT OF RENAL-FUNCTION

      American journal of physiology. Renal, fluid and electrolyte physiology
    79. TURCO AE; PADOVANI EM; PEISSEL B; CHIAFFONI GP; ROSSETTI S; GAMMARO L; MASCHIO G; PIGNATTI PF
      GENE LINKAGE ANALYSIS AND DNA-BASED DETECTION OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A NEWBORN-INFANT - CASE-REPORT

      Journal of perinatal medicine
    80. WILSON PD; DU J; NORMAN JT
      AUTOCRINE, ENDOCRINE AND PARACRINE REGULATION OF GROWTH ABNORMALITIESIN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      European journal of cell biology
    81. TURCO AE; PEISSEL B; ROSSETTI S; SELICORNI A; MANOUKIAN S; BRUSASCO A; TADINI G; GALIMBERTI A; TASSIS B; TUROLLA L; TENCONI R; PIGNATTI PF
      PRENATAL TESTING IN A FETUS AT RISK FOR AUTOSOMAL-DOMINANT POLYCYSTICKIDNEY-DISEASE AND AUTOSOMAL RECESSIVE JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA

      American journal of medical genetics


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Documento generato il 29/10/20 alle ore 07:27:10