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Results: 1-25 | 26-27
Results: 1-25/27
RECURRENCE OF THE PKD1 NONSENSE MUTATION Q4041X IN SPANISH, ITALIAN, AND BRITISH FAMILIES
Authors: TORRA R BADENAS C PERAL B DARNELL A SERRA E GAMBLE V TURCO AE HARRIS PC ESTIVILL X
Citation: R. Torra et al., RECURRENCE OF THE PKD1 NONSENSE MUTATION Q4041X IN SPANISH, ITALIAN, AND BRITISH FAMILIES, Human mutation, 1998, pp. 117-120
LOSS OF HETEROZYGOSITY ON CHROMOSOME 16P13.3 IN EPITHELIAL CYST CELLSFROM ADPKD PATIENTS
Authors: BADENAS C TORRA R PEREZ L MALLOLAS J ESTIVILL X DARNELL A
Citation: C. Badenas et al., LOSS OF HETEROZYGOSITY ON CHROMOSOME 16P13.3 IN EPITHELIAL CYST CELLSFROM ADPKD PATIENTS, European journal of human genetics, 6, 1998, pp. 4108-4108
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE PRESENTING IN ADULTHOOD- MOLECULAR DIAGNOSIS OF THE FAMILY
Authors: PEREZ L TORRA R BADENAS C ARA J COLL E MOISES J DARNELL A
Citation: L. Perez et al., AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE PRESENTING IN ADULTHOOD- MOLECULAR DIAGNOSIS OF THE FAMILY, Nephrology, dialysis, transplantation, 13(5), 1998, pp. 1273-1276
FACILITATED DIAGNOSIS OF THE CONTIGUOUS GENE SYNDROME - TUBEROUS SCLEROSIS AND POLYCYSTIC KIDNEYS BY MEANS OF HAPLOTYPE STUDIES
Authors: TORRA R BADENAS C DARNELL A CAMACHO JA ASPINWALL R HARRIS PC ESTIVILL X
Citation: R. Torra et al., FACILITATED DIAGNOSIS OF THE CONTIGUOUS GENE SYNDROME - TUBEROUS SCLEROSIS AND POLYCYSTIC KIDNEYS BY MEANS OF HAPLOTYPE STUDIES, American journal of kidney diseases, 31(6), 1998, pp. 1038-1043
CLINICAL, GENETIC AND MOLECULAR STUDIES O N AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Authors: TORRA R BADENAS C DARNELL A NICOLAU C VOLPINI V REVERT L ESTIVILL X
Citation: R. Torra et al., CLINICAL, GENETIC AND MOLECULAR STUDIES O N AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Medicina Clinica, 110(13), 1998, pp. 481-487
PHENOTYPE PKD2 VS. PKD1 - RESULTS FROM THE EUROPEAN CONCERTED ACTION
Authors: HATEBOER N DIJK M TORRA R BOGDANOVA N DAVIES F LAZAROU L BREUNING M SAGGARMALIK AK JEFFERY S MILLAN JLS MARTINEZ I WALKER R HOLMANS P RAVINE D COLES GA
Citation: N. Hateboer et al., PHENOTYPE PKD2 VS. PKD1 - RESULTS FROM THE EUROPEAN CONCERTED ACTION, Journal of the American Society of Nephrology, 8, 1997, pp. 1722-1722
SPORADIC OROFACIODIGITAL SYNDROME TYPE-I PRESENTING AS END-STAGE RENAL-DISEASE
Authors: COLL E TORRA R PASCUAL J BOTEY A ARA J PEREZ L BALLESTA F DARNELL A
Citation: E. Coll et al., SPORADIC OROFACIODIGITAL SYNDROME TYPE-I PRESENTING AS END-STAGE RENAL-DISEASE, Nephrology, dialysis, transplantation, 12(5), 1997, pp. 1040-1042
ULTRASONOGRAPHIC STUDY OF PANCREATIC CYSTS IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Authors: TORRA R NICOLAU C BADENAS C NAVARRO S PEREZ L ESTIVILL X DARNELL A
Citation: R. Torra et al., ULTRASONOGRAPHIC STUDY OF PANCREATIC CYSTS IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Clinical nephrology, 47(1), 1997, pp. 19-22
PKD2 - THE PHENOTYPE DEFINED
Authors: HATEBOER N TORRA R ESTIVILL E BOGDANOVA N DAVIES F LAZAROU L VONDIJK M BREUNING M SAGGARMALIK A JEFFERY S SANMILLAN JL MARTINEZ I WALKER R HOLMANS P RAVINE D
Citation: N. Hateboer et al., PKD2 - THE PHENOTYPE DEFINED, Kidney international, 52(4), 1997, pp. 1122-1122
AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE WITH ANTICIPATION AND CAROLIS-DISEASE ASSOCIATED WITH A PKD1 MUTATION
Authors: TORRA R BADENAS C DARNELL A BRU C ESCORSELL A ESTIVILL X
Citation: R. Torra et al., AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE WITH ANTICIPATION AND CAROLIS-DISEASE ASSOCIATED WITH A PKD1 MUTATION, Kidney international, 52(1), 1997, pp. 33-38
SONOGRAPHIC STUDIES OF PANCREATIC CYSTS AND AORTIC DIAMETER IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Authors: NICOLAU C TORRA R BADENAS C BRU C NAVARRO S ESTIVILL X DARNELL A
Citation: C. Nicolau et al., SONOGRAPHIC STUDIES OF PANCREATIC CYSTS AND AORTIC DIAMETER IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1847-1847
CLINICAL-FEATURES OF POLYCYSTIC KIDNEY-DISEASE TYPE-1 AND TYPE-2
Authors: TORRA R BADENAS C NICOLAU C VOLPINI V REVERT L ESTIVILL X DARNELL A
Citation: R. Torra et al., CLINICAL-FEATURES OF POLYCYSTIC KIDNEY-DISEASE TYPE-1 AND TYPE-2, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1874-1874
RECURRENCE OF THE PKD1 NONSENSE MUTATION Q4041X IN SPANISH, ITALIAN AND BRITISH FAMILIES
Authors: TORRA R BADENAS C PERAL B DARNELL A GAMBLE V TURCO AE HARRIS PC ESTIVILL X
Citation: R. Torra et al., RECURRENCE OF THE PKD1 NONSENSE MUTATION Q4041X IN SPANISH, ITALIAN AND BRITISH FAMILIES, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1875-1875
ABDOMINAL AORTIC-ANEURYSMS AND AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Authors: TORRA R NICOLAU C BADENAS C BRU C PEREZ L ESTIVILL X DARNELL A
Citation: R. Torra et al., ABDOMINAL AORTIC-ANEURYSMS AND AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Journal of the American Society of Nephrology, 7(11), 1996, pp. 2483-2486
LINKAGE, CLINICAL-FEATURES, AND PROGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE TYPE-1 AND TYPE-2
Authors: TORRA R BADENAS C DARNELL A NICOLAU C VOLPINI V REVERT L ESTIVILL X
Citation: R. Torra et al., LINKAGE, CLINICAL-FEATURES, AND PROGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE TYPE-1 AND TYPE-2, Journal of the American Society of Nephrology, 7(10), 1996, pp. 2142-2151
CLINICAL-FEATURES OF AUTOSOMAL-DOMINANT P OLYCYSTIC KIDNEY-DISEASE PATIENTS ON RENAL REPLACEMENT THERAPY IN CATALONIA FROM 1984 TO 1994
Authors: TORRA R VELA E CLERIES M DARNELL A
Citation: R. Torra et al., CLINICAL-FEATURES OF AUTOSOMAL-DOMINANT P OLYCYSTIC KIDNEY-DISEASE PATIENTS ON RENAL REPLACEMENT THERAPY IN CATALONIA FROM 1984 TO 1994, Nefrologia, 16(3), 1996, pp. 242-248
SUCCESSFUL PREGNANCY IN A PATIENT WITH HEMOLYTIC-UREMIC SYNDROME DURING THE 2ND TRIMESTER OF PREGNANCY - A CASE-REPORT
Authors: MARTINEZROMAN S GRATACOS E TORNE A TORRA R CARMONA F CARARACH V
Citation: S. Martinezroman et al., SUCCESSFUL PREGNANCY IN A PATIENT WITH HEMOLYTIC-UREMIC SYNDROME DURING THE 2ND TRIMESTER OF PREGNANCY - A CASE-REPORT, Journal of reproductive medicine, 41(3), 1996, pp. 211-214
RENAL-HEPATIC-PANCREATIC DYSPLASIA - AN AUTOSOMAL RECESSIVE MALFORMATION
Authors: TORRA R ALOS L RAMOS J ESTIVILL X
Citation: R. Torra et al., RENAL-HEPATIC-PANCREATIC DYSPLASIA - AN AUTOSOMAL RECESSIVE MALFORMATION, Journal of Medical Genetics, 33(5), 1996, pp. 409-412
PATIENTS WITH MULTIPLE-MYELOMA (MM) REQUIRING LONG-TERM HEMODIALYSIS (HD) - PRESENTING FEATURES, RESPONSE TO THERAPY AND SURVIVAL IN A SERIES OF 20 PATIENTS
Authors: BLADE J TORRA R CASES A LOPEZPEDRET J MONTSERRAT E REVERT L ROZMAN C
Citation: J. Blade et al., PATIENTS WITH MULTIPLE-MYELOMA (MM) REQUIRING LONG-TERM HEMODIALYSIS (HD) - PRESENTING FEATURES, RESPONSE TO THERAPY AND SURVIVAL IN A SERIES OF 20 PATIENTS, European journal of cancer, 31A, 1995, pp. 778-778
CHRONIC NEUTROPENIA AND CRYOGLOBULINEMIC NEPHROPATHY - EFFECTIVENESS OF TREATMENT
Authors: TORRA R DARNELL A BOTEY A REVERT L
Citation: R. Torra et al., CHRONIC NEUTROPENIA AND CRYOGLOBULINEMIC NEPHROPATHY - EFFECTIVENESS OF TREATMENT, Nephron, 69(1), 1995, pp. 87-88
PATIENTS WITH MULTIPLE-MYELOMA REQUIRING LONG-TERM DIALYSIS - PRESENTING FEATURES, RESPONSE TO THERAPY, AND OUTCOME IN A SERIES OF 20 CASES
Authors: TORRA R BLADE J CASES A LOPEZPEDRET J MONTSERRAT E ROZMAN C REVERT L
Citation: R. Torra et al., PATIENTS WITH MULTIPLE-MYELOMA REQUIRING LONG-TERM DIALYSIS - PRESENTING FEATURES, RESPONSE TO THERAPY, AND OUTCOME IN A SERIES OF 20 CASES, British Journal of Haematology, 91(4), 1995, pp. 854-859
SONOGRAPHIC APPROACH TO AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (APKD)
Authors: NICOLAU C TORRA R DARNELL A BRU C ESTIVILL X
Citation: C. Nicolau et al., SONOGRAPHIC APPROACH TO AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (APKD), Journal of the American Society of Nephrology, 5(3), 1994, pp. 650-650
INTERFAMILIAL AND INTRAFAMILIAL VARIABILITY OF CLINICAL EXPRESSION INAUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Authors: TORRA R DARNELL A BOTEY A ESTIVILL X REVERT LI
Citation: R. Torra et al., INTERFAMILIAL AND INTRAFAMILIAL VARIABILITY OF CLINICAL EXPRESSION INAUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Journal of the American Society of Nephrology, 5(3), 1994, pp. 653-653
ACUTE ABDOMINAL-PAIN AFTER VESICAL CATHETERIZATION IN A KIDNEY AND PANCREAS GRAFT RECIPIENT
Authors: TORRA R GILABERT R FERNANDEZCRUZ L RICART MJ ESMATJES E GONZALEZ S OPPENHEIMER F
Citation: R. Torra et al., ACUTE ABDOMINAL-PAIN AFTER VESICAL CATHETERIZATION IN A KIDNEY AND PANCREAS GRAFT RECIPIENT, Transplant international, 7(6), 1994, pp. 448-449
FATAL RUPTURE OF A MYCOTIC-ANEURYSM OF THE SUBCLAVIAN ARTERY - AN UNUSUAL COMPLICATION OF METHICILLIN-RESISTANT STAPHYLOCOCCUS-AUREUS-RELATED SEPSIS
Authors: TORRA R CASES A TRILLA A ORDI J LOPEZ J REVERT L
Citation: R. Torra et al., FATAL RUPTURE OF A MYCOTIC-ANEURYSM OF THE SUBCLAVIAN ARTERY - AN UNUSUAL COMPLICATION OF METHICILLIN-RESISTANT STAPHYLOCOCCUS-AUREUS-RELATED SEPSIS, Nephrology, dialysis, transplantation, 9(1), 1994, pp. 114-115
Risultati: 1-25 | 26-27