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
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
Authors:
ONG ACM
HARRIS PC
BIDDOLPH S
BOWKER C
WARD CJ
Citation: Acm. Ong et al., CHARACTERIZATION, CELLULAR EXPRESSION, TISSUE LOCALIZATION AND DEVELOPMENTAL MODULATION OF THE PKD-1 PRODUCT, POLYCYSTIN, Journal of the American Society of Nephrology, 8, 1997, pp. 1744-1744
Authors:
ONG ACM
WARD CJ
BIDDOLPH S
MIGONE N
HARRIS PC
Citation: Acm. Ong et al., POLYCYSTIN EXPRESSION IN PKD-1, INFANTILE PKD-1 AND TSC-2 PKD-1 CYSTIC KIDNEY - EVIDENCE AGAINST A 2-HIT DISEASE MECHANISM IN CYST INITIATION/, Journal of the American Society of Nephrology, 8, 1997, pp. 1745-1745
Citation: S. Rossetti et al., A STRATEGY FOR MUTATION SCREENING IN THE DUPLICATED REGION OF THE POLYCYSTIC-KIDNEY-DISEASE-1 (PKD1) GENE, Journal of the American Society of Nephrology, 8, 1997, pp. 1756-1756
Authors:
MAHESHWAR MM
CHEADLE JP
JONES AC
MYRING J
FRYER AE
HARRIS PC
SAMPSON JR
Citation: Mm. Maheshwar et al., THE GAP-RELATED DOMAIN OF TUBERIN, THE PRODUCT OF THE TSC2 GENE, IS ATARGET FOR MISSENSE MUTATIONS IN TUBEROUS SCLEROSIS, Human molecular genetics, 6(11), 1997, pp. 1991-1996
Authors:
GRIFFIN MD
GAMBLE V
MILLINER DS
GOMEZ MR
HARRIS PC
TORRES VE
Citation: Md. Griffin et al., NEONATAL PRESENTATION OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASEWITH A MATERNAL HISTORY OF TUBEROUS SCLEROSIS, Nephrology, dialysis, transplantation, 12(11), 1997, pp. 2284-2288
Authors:
VIRIBAY M
HAYASHI T
TELLERIA D
MOCHIZUKI T
REYNOLDS DM
ALONSO R
LENS XM
MORENO F
HARRIS PC
SOMLO S
SANMILLAN JL
Citation: M. Viribay et al., NOVEL STOP AND FRAMESHIFTING MUTATIONS IN THE AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE-2 (PKD2) GENE, Human genetics, 101(2), 1997, pp. 229-234
Authors:
THOMPSON PW
SAMPSON JR
MAHESHWAR MM
ASPINWALL P
CHEADLE J
RAVINE D
ROY S
HAAN E
BERNSTEIN J
HARRIS PC
Citation: Pw. Thompson et al., THE ROLE OF FISH IN INVESTIGATING DELETIONS OF THE TSC2 AND PKD1 GENEREGION AT CHROMOSOME 16P13.3, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 11-11
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ASPINWALL R
ROTHWELL DG
ROLDANARJONA T
ANSELMINO C
WARD CJ
CHEADLE JP
SAMPSON JR
LINDAHL T
HARRIS PC
HICKSON ID
Citation: R. Aspinwall et al., CLONING AND CHARACTERIZATION OF A FUNCTIONAL HUMAN HOMOLOG OF ESCHERICHIA-COLI ENDONUCLEASE-III, Proceedings of the National Academy of Sciences of the United Statesof America, 94(1), 1997, pp. 109-114
Authors:
SAMPSON JR
MAHESHWAR MM
ASPINWALL R
THOMPSON P
CHEADLE JP
RAVINE D
ROY S
HAAN E
BERNSTEIN J
HARRIS PC
Citation: Jr. Sampson et al., RENAL CYSTIC-DISEASE IN TUBEROUS SCLEROSIS - ROLE OF THE POLYCYSTIC KIDNEY-DISEASE-1 GENE, American journal of human genetics, 61(4), 1997, pp. 843-851
Authors:
PERAL B
GAMBLE V
STRONG C
ONG ACM
SLOANESTANLEY J
ZERRES K
WINEARLS CG
HARRIS PC
Citation: B. Peral et al., IDENTIFICATION OF MUTATIONS IN THE DUPLICATED REGION OF THE POLYCYSTIC-KIDNEY-DISEASE-1 GENE (PKD1) BY A NOVEL-APPROACH, American journal of human genetics, 60(6), 1997, pp. 1399-1410
Authors:
PERAL B
GAMBLE V
ONG ACM
SANMILLAN JL
HARRIS PC
Citation: B. Peral et al., MUTATION DEFECTION IN POLYCYSTIC KIDNEY-DISEASE-1 (PKD1) GENE, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1856-1856
Authors:
SANDFORD RN
SGOTTO B
HUGHES J
HARRIS PC
LOCKWOOD MC
Citation: Rn. Sandford et al., COMPARATIVE-ANALYSIS OF THE PKD1 GENE AND ITS PREDICTED PROTEIN, POLYCYSTIN, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1864-1864
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
Authors:
PERAL B
ONG ACM
SANMILLAN JL
GAMBLE V
REES L
HARRIS PC
Citation: B. Peral et al., A STABLE, NONSENSE MUTATION ASSOCIATED WITH A CASE OF INFANTILE ONSETPOLYCYSTIC-KIDNEY-DISEASE-1 (PKD1), Human molecular genetics, 5(4), 1996, pp. 539-542
Citation: Pc. Harris, IDENTIFICATION OF A GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - IMPLICATIONS FOR UNDERSTANDING THE PATHOGENESIS AND TREATMENT OF THE DISEASE, Nephrology, dialysis, transplantation, 11(2), 1996, pp. 258-262
Authors:
WARD CJ
TURLEY H
ONG ACM
COMLEY M
BIDDOLPH S
CHETTY R
RATCLIFFE PJ
GATTER K
HARRIS PC
Citation: Cj. Ward et al., POLYCYSTIN, THE POLYCYSTIC KIDNEY-DISEASE-1 PROTEIN, IS EXPRESSED BY EPITHELIAL-CELLS IN FETAL, ADULT, AND POLYCYSTIC KIDNEY, Proceedings of the National Academy of Sciences of the United Statesof America, 93(4), 1996, pp. 1524-1528
Authors:
PERAL B
SANMILLAN JL
ONG ACM
GAMBLE V
WARD CJ
STRONG C
HARRIS PC
Citation: B. Peral et al., SCREENING THE 3' REGION OF THE POLYCYSTIC-KIDNEY-DISEASE-1 (PKD1) GENE REVEALS 6 NOVEL MUTATIONS, American journal of human genetics, 58(1), 1996, pp. 86-96