-
1
-
-
35448961665
-
When cilia go bad: Cilia defects and ciliopathies
-
DOI 10.1038/nrm2278, PII NRM2278
-
M Fliegauf T Benzing H Omran 2007 When cilia go bad: cilia defects and ciliopathies Nat Rev Mol Cell Biol 8 880 893 17955020 1:CAS:528: DC%2BD2sXhtF2qsLzI (Pubitemid 47622564)
-
(2007)
Nature Reviews Molecular Cell Biology
, vol.8
, Issue.11
, pp. 880-893
-
-
Fliegauf, M.1
Benzing, T.2
Omran, H.3
-
2
-
-
0027213836
-
Glomerulocystic kidney disease-nosological considerations
-
8398663 1:STN:280:DyaK2c%2FgtFChtA%3D%3D
-
J Bernstein 1993 Glomerulocystic kidney disease-nosological considerations Pediatr Nephrol 7 464 470 8398663 1:STN:280: DyaK2c%2FgtFChtA%3D%3D
-
(1993)
Pediatr Nephrol
, vol.7
, pp. 464-470
-
-
Bernstein, J.1
-
4
-
-
61349201379
-
Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: Shared disease mechanisms?
-
19240728 1:CAS:528:DC%2BD1MXit1Kksb8%3D
-
BJ Siroky MF Czyzyk-Krzeska JJ Bissler 2009 Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms? Nat Clin Pract Nephrol 5 143 156 19240728 1:CAS:528:DC%2BD1MXit1Kksb8%3D
-
(2009)
Nat Clin Pract Nephrol
, vol.5
, pp. 143-156
-
-
Siroky, B.J.1
Czyzyk-Krzeska, M.F.2
Bissler, J.J.3
-
5
-
-
77950473097
-
Cystic diseases of the kidney: Molecular biology and genetics
-
20367309 1:CAS:528:DC%2BC3cXltlyqt7g%3D
-
C Deltas G Papagregoriou 2010 Cystic diseases of the kidney: molecular biology and genetics Arch Pathol Lab Med 134 569 582 20367309 1:CAS:528:DC%2BC3cXltlyqt7g%3D
-
(2010)
Arch Pathol Lab Med
, vol.134
, pp. 569-582
-
-
Deltas, C.1
Papagregoriou, G.2
-
6
-
-
70449711340
-
Clinical and molecular features of Joubert syndrome and related disorders
-
19876931 1:CAS:528:DC%2BD1MXhsFWjsbzL
-
MA Parisi 2009 Clinical and molecular features of Joubert syndrome and related disorders Am J Med Genet C Semin Med Genet 151C 326 340 19876931 1:CAS:528:DC%2BD1MXhsFWjsbzL
-
(2009)
Am J Med Genet C Semin Med Genet
, vol.151
, pp. 326-340
-
-
Parisi, M.A.1
-
7
-
-
70449672812
-
Liver and kidney disease in ciliopathies
-
19876928 1:CAS:528:DC%2BD1MXhsFWjsbzI
-
M Gunay-Aygun 2009 Liver and kidney disease in ciliopathies Am J Med Genet C Semin Med Genet 151C 296 306 19876928 1:CAS:528:DC%2BD1MXhsFWjsbzI
-
(2009)
Am J Med Genet C Semin Med Genet
, vol.151
, pp. 296-306
-
-
Gunay-Aygun, M.1
-
9
-
-
0023705784
-
Dominant and recessive polycystic kidney disease in children: Evaluation of clinical features and laboratory data
-
3153029 1:STN:280:DyaK3M%2Fgt1Snug%3D%3D
-
H Kaariainen O Koskimies R Norio 1988 Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data Pediatr Nephrol 2 296 302 3153029 1:STN:280:DyaK3M%2Fgt1Snug%3D%3D
-
(1988)
Pediatr Nephrol
, vol.2
, pp. 296-302
-
-
Kaariainen, H.1
Koskimies, O.2
Norio, R.3
-
10
-
-
0028906290
-
The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: Implications for genetic counseling
-
7726165 1:CAS:528:DyaK2MXmtF2gsbw%3D
-
LM Guay-Woodford G Muecher SD Hopkins ED Avner GG Germino AP Guillot J Herrin R Holleman DA Irons W Primack PD Thompson FB Waldo PW Lunt K Zerres 1995 The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: Implications for genetic counseling Am J Hum Genet 56 1101 1107 7726165 1:CAS:528:DyaK2MXmtF2gsbw%3D
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1101-1107
-
-
Guay-Woodford, L.M.1
Muecher, G.2
Hopkins, S.D.3
Avner, E.D.4
Germino, G.G.5
Guillot, A.P.6
Herrin, J.7
Holleman, R.8
Irons, D.A.9
Primack, W.10
Thompson, P.D.11
Waldo, F.B.12
Lunt, P.W.13
Zerres, K.14
-
11
-
-
18344366124
-
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription- factor domains and parallel beta-helix 1 repeats
-
DOI 10.1086/340448
-
LF Onuchic L Furu Y Nagasawa X Hou T Eggermann Z Ren C Bergmann J Senderek E Esquivel R Zeltner S Rudnik-Schoneborn M Mrug W Sweeney ED Avner K Zerres LM Guay-Woodford S Somlo GG Germino 2002 PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats Am J Hum Genet 70 1305 1317 11898128 1:CAS:528:DC%2BD38XjsFGnsL0%3D (Pubitemid 34450580)
-
(2002)
American Journal of Human Genetics
, vol.70
, Issue.5
, pp. 1305-1317
-
-
Onuchic, L.F.1
Furu, L.2
Nagasawa, Y.3
Hou, X.4
Eggermann, T.5
Ren, Z.6
Bergmann, C.7
Senderek, J.8
Esquivel, E.9
Zeltner, R.10
Rudnik-Schoneborn, S.11
Mrug, M.12
Sweeney, W.13
Avner, E.D.14
Zerres, K.15
Guay-Woodford, L.M.16
Somlo, S.17
Germino, G.G.18
-
12
-
-
0036509712
-
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
-
11919560
-
CJ Ward MC Hogan S Rossetti D Walker T Sneddon X Wang V Kubly JM Cunningham R Bacallao M Ishibashi DS Milliner VE Torres PC Harris 2002 The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein Nat Genet 30 259 269 11919560
-
(2002)
Nat Genet
, vol.30
, pp. 259-269
-
-
Ward, C.J.1
Hogan, M.C.2
Rossetti, S.3
Walker, D.4
Sneddon, T.5
Wang, X.6
Kubly, V.7
Cunningham, J.M.8
Bacallao, R.9
Ishibashi, M.10
Milliner, D.S.11
Torres, V.E.12
Harris, P.C.13
-
13
-
-
16244414299
-
Molecular pathogenesis of ADPKD: The polycystin complex gets complex
-
DOI 10.1111/j.1523-1755.2005.00201.x
-
AC Ong PC Harris 2005 Molecular pathogenesis of ADPKD: the polycystin complex gets complex Kidney Int 67 1234 1247 15780076 1:CAS:528: DC%2BD2MXjsV2mtbk%3D (Pubitemid 40463100)
-
(2005)
Kidney International
, vol.67
, Issue.4
, pp. 1234-1247
-
-
Ong, A.C.M.1
Harris, P.C.2
-
14
-
-
0027925829
-
Medical progress: Autosomal dominant polycystic kidney disease
-
DOI 10.1056/NEJM199307293290508
-
PA Gabow 1993 Autosomal dominant polycystic kidney disease N Engl J Med 329 332 342 8321262 1:STN:280:DyaK3szgvFGitw%3D%3D (Pubitemid 23210687)
-
(1993)
New England Journal of Medicine
, vol.329
, Issue.5
, pp. 332-342
-
-
Gabow, P.A.1
-
15
-
-
0030789466
-
A family with a milder form of adult dominant polycystic Kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes
-
M Ariza V Alvarez R Marin S Aguado C Lopez-Larrea J Alvarez MJ Menendez E Coto 1997 A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes J Med Genet 34 587 589 9222969 1:STN:280:DyaK2szms1Wmuw%3D%3D (Pubitemid 27315641)
-
(1997)
Journal of Medical Genetics
, vol.34
, Issue.7
, pp. 587-589
-
-
Ariza, M.1
Alvarez, V.2
Marin, R.3
Aguado, S.4
Lopez-Larrea, C.5
Alvarez, J.6
Menendez, M.J.7
Coto, E.8
-
16
-
-
0029042394
-
Autosomal dominant polycystic kidney disease: Evidence for the existence of a third locus in a Portuguese family
-
7607660
-
S de Almeida E de Almeida D Peters JR Pinto I Tavora J Lavinha M Breuning MM Prata 1995 Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family Hum Genet 96 83 88 7607660
-
(1995)
Hum Genet
, vol.96
, pp. 83-88
-
-
De Almeida, S.1
De Almeida, E.2
Peters, D.3
Pinto, J.R.4
Tavora, I.5
Lavinha, J.6
Breuning, M.7
Prata, M.M.8
-
17
-
-
0028932219
-
Evidence for a third genetic locus for autosomal dominant polycystic kidney disease
-
7759112 1:CAS:528:DyaK2MXktFOqs74%3D
-
MC Daoust DM Reynolds DG Bichet 1995 Evidence for a third genetic locus for autosomal dominant polycystic kidney disease Genomics 25 733 737 7759112 1:CAS:528:DyaK2MXktFOqs74%3D
-
(1995)
Genomics
, vol.25
, pp. 733-737
-
-
Daoust, M.C.1
Reynolds, D.M.2
Bichet, D.G.3
-
18
-
-
0032485302
-
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology
-
DOI 10.1002/(SICI)1096-8628(19980305)76:2<137::AID-AJMG6>3.0.CO;2-Q
-
K Zerres G Mucher J Becker C Steinkamm S Rudnik-Schoneborn P Heikkila J Rapola R Salonen GG Germino L Onuchic S Somlo ED Avner LA Harman JM Stockwin LM Guay-Woodford 1998 Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology Am J Med Genet 76 137 144 9511976 1:STN:280:DyaK1c7ntV2htQ%3D%3D (Pubitemid 28117131)
-
(1998)
American Journal of Medical Genetics
, vol.76
, Issue.2
, pp. 137-144
-
-
Zerres, K.1
Mucher, G.2
Becker, J.3
Steinkamm, C.4
Rudnik-Schoneborn, S.5
Heikkila, P.6
Rapola, J.7
Salonen, R.8
Germino, G.G.9
Onuchic, L.10
Somlo, S.11
Avner, E.D.12
Harman, L.A.13
Stockwin, J.M.14
Guay-Woodford, L.M.15
-
19
-
-
33644957836
-
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)
-
DOI 10.1097/01.md.0000200165.90373.9a, PII 0000579220060100000001
-
M Adeva M El-Youssef S Rosetti PS Kamath V Kubly MB Consugar DM Milliner BF King VE Torres PC Harris 2006 Clinical and molecular characterizations defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD) Medicine 85 1 21 16523049 (Pubitemid 43884283)
-
(2006)
Medicine
, vol.85
, Issue.1
, pp. 1-21
-
-
Adeva, M.1
El-Youssef, M.2
Rossetti, S.3
Kamath, P.S.4
Kubly, V.5
Consugar, M.B.6
Milliner, D.M.7
King, B.F.8
Torres, V.E.9
Harris, P.C.10
-
20
-
-
0038304401
-
Autosomal recessive polycystic kidney disease: The clinical experience in North America
-
DOI 10.1542/peds.111.5.1072
-
LM Guay-Woodford RA Desmond 2003 Autosomal recessive polycystic kidney disease: the clinical experience in North America Pediatrics 111 1072 1080 12728091 (Pubitemid 36542624)
-
(2003)
Pediatrics
, vol.111
, pp. 1072-1080
-
-
Guay-Woodford, L.M.1
Desmond, R.A.2
-
21
-
-
77956402393
-
Polycystic kidney disease
-
E.D. Avner W.E. Harmon P. Niaudet N. Yoshikawa (eds). Springer Berlin, Heidelberg
-
Dell KM, Sweeney WE, Avner ED (2009) Polycystic kidney disease. In: Avner ED, Harmon WE, Niaudet P, Yoshikawa N (eds) Pediatric nephrology. Vol. 1. Springer, Berlin, Heidelberg, pp 849-887
-
(2009)
Pediatric Nephrology
, vol.1
, pp. 849-887
-
-
Dell, K.M.1
Sweeney, W.E.2
Avner, E.D.3
-
22
-
-
0022371593
-
Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease?
-
3908289 1:STN:280:DyaL28%2FotlyntQ%3D%3D
-
K Zerres M Hansmann G Knopfle M Stephan 1985 Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease? Hum Genet 71 368 389 3908289 1:STN:280:DyaL28%2FotlyntQ%3D%3D
-
(1985)
Hum Genet
, vol.71
, pp. 368-389
-
-
Zerres, K.1
Hansmann, M.2
Knopfle, G.3
Stephan, M.4
-
23
-
-
0030957715
-
Autosomal recessive polycystic kidney disease: Long-term outcome of neonatal survivors
-
DOI 10.1007/s004670050281
-
S Roy MJ Dillon RS Trompeter TM Barratt 1997 Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors Pediatr Nephrol 11 302 306 9203177 1:STN:280:DyaK2szks1Olsg%3D%3D (Pubitemid 27230812)
-
(1997)
Pediatric Nephrology
, vol.11
, Issue.3
, pp. 302-306
-
-
Roy, S.1
Dillon, M.J.2
Trompeter, R.S.3
Barratt, T.M.4
-
25
-
-
0023552213
-
Polycystic kidney disease in the first year of life
-
DOI 10.1016/S0022-3476(87)80244-5
-
BR Cole SB Conley FB Stapleton 1987 Polycystic kidney disease in the first year of life J Pediatr 111 693 699 3668738 1:STN:280: DyaL1c%2FjsFCgtQ%3D%3D (Pubitemid 18017896)
-
(1987)
Journal of Pediatrics
, vol.111
, Issue.5
, pp. 693-699
-
-
Cole, B.R.1
Conley, S.B.2
Stapleton, F.B.3
-
26
-
-
0002250323
-
Autosomal recessive polycystic kidney disease: Clinical and genetic profiles
-
M.L. Watson V.H. Torres (eds). Oxford University Press New York
-
Guay-Woodford L (1996) Autosomal recessive polycystic kidney disease: clinical and genetic profiles. In: Watson ML, Torres VH (eds) Polycystic kidney disease. Oxford University Press, New York, pp 237-266
-
(1996)
Polycystic Kidney Disease
, pp. 237-266
-
-
Guay-Woodford, L.1
-
27
-
-
0142054934
-
Survival of childhood polycystic kidney disease following renal transplantation: The impact of advanced hepatobiliary disease
-
DOI 10.1034/j.1399-3046.2003.00094.x
-
ID Davis M Ho V Hupertz ED Avner 2003 Survival of childhood polycystic kidney disease following renal transplantation: the impact of advanced hepatobiliary disease Pediatr Transplant 7 364 369 14738296 (Pubitemid 37295942)
-
(2003)
Pediatric Transplantation
, vol.7
, Issue.5
, pp. 364-369
-
-
Davis, I.D.1
Ho, M.2
Hupertz, V.3
Avner, E.D.4
-
28
-
-
0015123650
-
Polycystic disease of kidney and liver presenting in childhood
-
5097134 1:STN:280:DyaE38%2FgvFCgsg%3D%3D
-
H Blyth BG Ockenden 1971 Polycystic disease of kidney and liver presenting in childhood J Med Genet 8 257 284 5097134 1:STN:280: DyaE38%2FgvFCgsg%3D%3D
-
(1971)
J Med Genet
, vol.8
, pp. 257-284
-
-
Blyth, H.1
Ockenden, B.G.2
-
29
-
-
58149122681
-
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)
-
19089418
-
B Turkbey I Ocak K Daryanani E Font-Montgomery L Lukose J Bryant M Tuchman P Mohan T Heller WA Gahl PL Choyke M Gunay-Aygun 2009 Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF) Pediatr Radiol 39 100 111 19089418
-
(2009)
Pediatr Radiol
, vol.39
, pp. 100-111
-
-
Turkbey, B.1
Ocak, I.2
Daryanani, K.3
Font-Montgomery, E.4
Lukose, L.5
Bryant, J.6
Tuchman, M.7
Mohan, P.8
Heller, T.9
Gahl, W.A.10
Choyke, P.L.11
Gunay-Aygun, M.12
-
30
-
-
0001652622
-
Autosomal recessive polycystic kidney disease in 115 children: Clinical presentation, course and influence of gender
-
K Zerres S Rudnik-Schoneborn F Deget U Holtkamp J Brodehl J Geisert K Scharer 1996 Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische,, Nephrologie Acta Paediatr 85 437 445 8740301 1:STN:280:DyaK28zht1Ontw%3D%3D (Pubitemid 26140265)
-
(1996)
Acta Paediatrica, International Journal of Paediatrics
, vol.85
, Issue.4
, pp. 437-445
-
-
Zerres, K.1
Rudnik-Schoneborn, S.2
Deget, F.3
Holtkamp, U.4
Brodehl, J.5
Geisert, J.6
Scharer, K.7
Ruder, H.8
Rascher, W.9
Dippel, J.10
Hufschmidt, C.11
Muller-Wiefel, D.E.12
Konrad, M.13
Kaariainen, H.14
Misselwitz, J.15
Volpel, S.16
Michalk, D.17
Eife, R.18
Kuwertz-Brocking, E.19
Von Muhlendahl, K.E.20
more..
-
31
-
-
84921431117
-
Maternal hydration for increasing amniotic fluid volume in oligohydramnios and normal amniotic fluid volume
-
Hofmeyr GJ, Gulmezoglu AM (2000) Maternal hydration for increasing amniotic fluid volume in oligohydramnios and normal amniotic fluid volume. Cochrane Database Syst Rev CD000134
-
(2000)
Cochrane Database Syst Rev
-
-
Hofmeyr, G.J.1
Gulmezoglu, A.M.2
-
33
-
-
79954439135
-
Glomerular circulation and function
-
E.D. Avner W.E. Harmon P. Niaudet (eds). Springer Berlin, Heidelberg
-
Hunley TE, Kon V, Ichikawa I (2009) Glomerular circulation and function. In: Avner ED, Harmon WE, Niaudet P (eds) Pediatric nephrology, vol 1. Springer, Berlin, Heidelberg, pp 31-64
-
(2009)
Pediatric Nephrology
, vol.1
, pp. 31-64
-
-
Hunley, T.E.1
Kon, V.2
Ichikawa, I.3
-
34
-
-
0001646044
-
Pathogenesis of polycystic kidneys. Type 1 due to hyperplasia of interstitial portions of collecting tubules
-
14120682 1:STN:280:DyaF2c%2FnvVCitw%3D%3D
-
V Osathanondh EL Potter 1964 Pathogenesis of polycystic kidneys. Type 1 due to hyperplasia of interstitial portions of collecting tubules Arch Pathol 77 466 473 14120682 1:STN:280:DyaF2c%2FnvVCitw%3D%3D
-
(1964)
Arch Pathol
, vol.77
, pp. 466-473
-
-
Osathanondh, V.1
Potter, E.L.2
-
35
-
-
0000608593
-
Polycystic diseases of the kidney
-
C. Edelmann (eds). Little, Brown Boston
-
Bernstein J, Slovis TL (1992) Polycystic diseases of the kidney. In: Edelmann C (ed) Pediatric kidney diseases, vol 2. Little, Brown, Boston, pp 1139-1157
-
(1992)
Pediatric Kidney Diseases
, vol.2
, pp. 1139-1157
-
-
Bernstein, J.1
Slovis, T.L.2
-
36
-
-
19844361953
-
High-resolution renal sonography in children with autosomal recessive polycystic kidney disease
-
J Traubici A Daneman 2005 High-resolution renal sonography in children with autosomal recessive polycystic kidney disease AJR Am J Roentgenol 184 1630 1633 15855129 (Pubitemid 43821849)
-
(2005)
American Journal of Roentgenology
, vol.184
, Issue.5
, pp. 1630-1633
-
-
Traubici, J.1
Daneman, A.2
-
37
-
-
0025234303
-
Polycystic disease of the kidney. Evaluation and classification based on nephron segment and cell-type specific markers
-
H Holthofer T Kumpulainer J Rapola 1990 Polycystic disease of the kidney: evaluation and classification based on nephron segment and cell-type specific markers Lab Invest 62 363 369 1690315 1:STN:280:DyaK3c7ovFOrsA%3D%3D (Pubitemid 20124273)
-
(1990)
Laboratory Investigation
, vol.62
, Issue.3
, pp. 363-369
-
-
Holthofer, H.1
Kumpulainen, T.2
Rapola, J.3
-
38
-
-
0033832716
-
Sonographic pattern of recessive polycystic kidney disease in young adults. Differences from the dominant form
-
10978393 1:STN:280:DC%2BD3M%2Fhs1Gjuw%3D%3D
-
C Nicolau R Torra C Badenas L Perez JA Oliver A Darnell C Bru 2000 Sonographic pattern of recessive polycystic kidney disease in young adults. Differences from the dominant form Nephrol Dial Transplant 15 1373 1378 10978393 1:STN:280:DC%2BD3M%2Fhs1Gjuw%3D%3D
-
(2000)
Nephrol Dial Transplant
, vol.15
, pp. 1373-1378
-
-
Nicolau, C.1
Torra, R.2
Badenas, C.3
Perez, L.4
Oliver, J.A.5
Darnell, A.6
Bru, C.7
-
39
-
-
0037251567
-
Sonography of macrocysts in infantile polycystic kidney disease
-
12523616
-
R Stein-Wexler K Jain 2003 Sonography of macrocysts in infantile polycystic kidney disease J Ultrasound Med 22 105 117 12523616
-
(2003)
J Ultrasound Med
, vol.22
, pp. 105-117
-
-
Stein-Wexler, R.1
Jain, K.2
-
40
-
-
0028931119
-
Autosomal recessive polycystic kidney disease: Long-term sonographic findings in patients surviving the neonatal period
-
7717240 1:STN:280:DyaK2M3jtlaksg%3D%3D
-
JG Blickman RT Bramson JT Herrin 1995 Autosomal recessive polycystic kidney disease: long-term sonographic findings in patients surviving the neonatal period AJR Am J Roentgenol 164 1247 1250 7717240 1:STN:280: DyaK2M3jtlaksg%3D%3D
-
(1995)
AJR Am J Roentgenol
, vol.164
, pp. 1247-1250
-
-
Blickman, J.G.1
Bramson, R.T.2
Herrin, J.T.3
-
41
-
-
0036955931
-
Hereditary polycystic kidney diseases in children: Changing sonographic patterns through childhood
-
DOI 10.1007/s00247-001-0624-0
-
FE Avni G Guissard M Hall F Janssen V DeMaertelaer F Rypens 2002 Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood Pediatr Radiol 32 169 174 12164348 (Pubitemid 36097124)
-
(2002)
Pediatric Radiology
, vol.32
, Issue.3
, pp. 169-174
-
-
Avni, F.E.1
Guissard, G.2
Hall, M.3
Janssen, F.4
DeMaertelaer, V.5
Rypens, F.6
-
42
-
-
33845949834
-
Imaging findings in congenital hepatic fibrosis
-
DOI 10.1016/j.ejrad.2006.11.007, PII S0720048X06004475
-
O Akhan AD Karaosmanoglu B Ergen 2007 Imaging findings in congenital hepatic fibrosis Eur J Radiol 61 18 24 17164079 (Pubitemid 46038029)
-
(2007)
European Journal of Radiology
, vol.61
, Issue.1
, pp. 18-24
-
-
Akhan, O.1
Karaosmanoglu, A.D.2
Ergen, B.3
-
43
-
-
0034071205
-
Appearance of autosomal recessive polycystic kidney disease in magnetic resonance imaging and RARE-MR-urography
-
S Kern LB Zimmerhackl F Hildebrandt B Ermisch-Omran M Uhl 2000 Appearance of autosomal recessive polycystic kidney disease in magnetic resonance imaging and RARE-MR-urography Pediatr Radiol 30 156 160 10755752 1:STN:280: DC%2BD3c3hs1GmtA%3D%3D (Pubitemid 30156477)
-
(2000)
Pediatric Radiology
, vol.30
, Issue.3
, pp. 156-160
-
-
Kern, S.1
Zimmerhackl, L.-B.2
Hildebrandt, F.3
Ermisch-Omran, B.4
Uhl, M.5
-
44
-
-
0033190819
-
Rare-MR-urography-a new diagnostic method in autosomal recessive polycystic kidney disease
-
10485245 1:STN:280:DyaK1Mvhtlamtw%3D%3D
-
S Kern LB Zimmerhackl F Hildebrandt M Uhl 1999 Rare-MR-urography-a new diagnostic method in autosomal recessive polycystic kidney disease Acta Radiol 40 543 554 10485245 1:STN:280:DyaK1Mvhtlamtw%3D%3D
-
(1999)
Acta Radiol
, vol.40
, pp. 543-554
-
-
Kern, S.1
Zimmerhackl, L.B.2
Hildebrandt, F.3
Uhl, M.4
-
45
-
-
0018819675
-
Sonography of infantile polycystic kidney disease
-
DK Boal RL Teele 1980 Sonography of infantile polycystic kidney disease Am J Radiol 135 575 580 1:STN:280:DyaL3c3mt1Oktg%3D%3D (Pubitemid 10048789)
-
(1980)
American Journal of Roentgenology
, vol.135
, Issue.3
, pp. 575-580
-
-
Boal, D.K.1
Teele, R.L.2
-
46
-
-
67649841563
-
Autosomal dominant polycystic kidney disease: The last 3 years
-
19455193
-
VE Torres PC Harris 2009 Autosomal dominant polycystic kidney disease: the last 3 years Kidney Int 76 149 168 19455193
-
(2009)
Kidney Int
, vol.76
, pp. 149-168
-
-
Torres, V.E.1
Harris, P.C.2
-
47
-
-
77249174336
-
Determinants of renal disease variability in ADPKD
-
20219616
-
PC Harris S Rossetti 2010 Determinants of renal disease variability in ADPKD Adv Chronic Kidney Dis 17 131 139 20219616
-
(2010)
Adv Chronic Kidney Dis
, vol.17
, pp. 131-139
-
-
Harris, P.C.1
Rossetti, S.2
-
48
-
-
77950295966
-
Molecular diagnostics for autosomal dominant polycystic kidney disease
-
20177400 1:CAS:528:DC%2BC3cXjvV2rtb8%3D
-
PC Harris S Rossetti 2010 Molecular diagnostics for autosomal dominant polycystic kidney disease Nat Rev Nephrol 6 197 206 20177400 1:CAS:528:DC%2BC3cXjvV2rtb8%3D
-
(2010)
Nat Rev Nephrol
, vol.6
, pp. 197-206
-
-
Harris, P.C.1
Rossetti, S.2
-
49
-
-
20144375384
-
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)
-
DOI 10.1111/j.1523-1755.2005.00148.x
-
C Bergmann J Senderek E Windelen F Kupper I Middeldorf F Schneider C Dornia S Rudnik-Schoneborn M Konrad CP Schmitt T Seeman TJ Neuhaus U Vester J Kirfel R Buttner K Zerres 2005 Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) Kidney Int 67 829 848 15698423 1:CAS:528:DC%2BD2MXis1Grt7c%3D (Pubitemid 41623308)
-
(2005)
Kidney International
, vol.67
, Issue.3
, pp. 829-848
-
-
Bergmann, C.1
Senderek, J.2
Windelen, E.3
Kupper, F.4
Middeldorf, I.5
Schneider, F.6
Dornia, C.7
Rudnik-Schoneborn, S.8
Konrad, M.9
Schmitt, C.P.10
Seeman, T.11
Neuhaus, T.J.12
Vester, U.13
Kirfel, J.14
Buttner, R.15
Zerres, K.16
Abel, E.17
Ala-Mello, S.18
Ausserer, B.19
Bald, M.20
Beetz, R.21
Besbas, N.22
Brandis, M.23
Coulthard, M.24
Dippel, J.25
Garcia, C.D.26
Fischbach, M.27
Foged, N.28
Frishberg, Y.29
Gellermann, J.30
Gordjani, N.31
Haffner, K.32
Hennekam, R.C.33
Hoppe, B.34
Hoyer, P.35
John, U.36
Kaariainen, H.37
Kemper, M.J.38
Koivisto, P.39
Kruger, G.40
Kuwertz-Brocking, E.41
Lambert, D.42
Lennert, T.43
Li Volti, S.44
Mache, C.45
Matthijs, G.46
Mehls, O.47
Meiner, V.48
Misselwitz, J.49
Mononen, T.50
Muller-Wiefel, D.E.51
Mustonen, A.52
Ozen, S.53
Oliveira, J.P.54
Pirson, Y.55
Querfeld, U.56
Rascher, W.57
Rudin, C.58
Santos, H.G.59
Schroder, M.60
Seyberth, H.W.61
Shalev, S.62
Shohat, M.63
Strehlau, J.64
Vierimaa, O.65
Volpel, S.66
Wilson, M.67
Zimmerhackl, B.68
more..
-
50
-
-
17144369146
-
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
-
DOI 10.1136/jmg.2004.024489
-
AM Sharp LM Messiaen G Page C Antignac MC Gubler LF Onuchic S Somlo GG Germino LM Guay-Woodford 2005 Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts J Med Genet 42 336 349 15805161 1:CAS:528:DC%2BD2MXktFGgt7o%3D (Pubitemid 40523957)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.4
, pp. 336-349
-
-
Sharp, A.M.1
Messiaen, L.M.2
Page, G.3
Antignac, C.4
Gubler, M.-C.5
Onuchic, L.F.6
Somlo, S.7
Germino, G.G.8
Guay-Woodford, L.M.9
-
51
-
-
27944445032
-
Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)
-
DOI 10.1007/s00439-005-0027-7
-
M Losekoot C Haarloo C Ruivenkamp SJ White MH Breuning DJ Peters 2005 Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD) Hum Genet 118 185 206 16133180 1:CAS:528:DC%2BD2MXht1aitL%2FF (Pubitemid 41672081)
-
(2005)
Human Genetics
, vol.118
, Issue.2
, pp. 185-206
-
-
Losekoot, M.1
Haarloo, C.2
Ruivenkamp, C.3
White, S.J.4
Breuning, M.H.5
Peters, D.J.M.6
-
52
-
-
14944378098
-
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)
-
DOI 10.1002/humu.20145
-
C Bergmann F Kupper C Dornia F Schneider J Senderek K Zerres 2005 Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD) Hum Mutat 25 225 231 15706593 1:CAS:528:DC%2BD2MXpslSktr8%3D (Pubitemid 40365140)
-
(2005)
Human Mutation
, vol.25
, Issue.3
, pp. 225-231
-
-
Bergmann, C.1
Kupper, F.2
Dornia, C.3
Schneider, F.4
Senderek, J.5
Zerres, K.6
-
53
-
-
10744226026
-
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees
-
DOI 10.1046/j.1523-1755.2003.00111.x
-
S Rossetti R Torra E Coto M Consugar V Kubly S Malaga M Navarro M El-Youssef VE Torres PC Harris 2003 A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees Kidney Int 64 391 403 12846734 1:CAS:528:DC%2BD3sXmsFykurw%3D (Pubitemid 36871910)
-
(2003)
Kidney International
, vol.64
, Issue.2
, pp. 391-403
-
-
Rossetti, S.1
Torra, R.2
Coto, E.3
Consugar, M.4
Kubly, V.5
Malaga, S.6
Navarro, M.7
El-Youssef, M.8
Torres, V.E.9
Harris, P.C.10
-
54
-
-
19944419434
-
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease
-
DOI 10.1053/j.ajkd.2004.09.009, PII S0272638604013046
-
MB Consugar SA Anderson S Rossetti VS Pankratz CJ Ward R Torra E Coto M El-Youssef S Kantarci B Utsch F Hildebrandt WE Sweeney ED Avner VE Torres JM Cunningham PC Harris 2005 Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease Am J Kidney Dis 45 77 87 15696446 1:CAS:528:DC%2BD2MXhtVOrtrs%3D (Pubitemid 40038047)
-
(2005)
American Journal of Kidney Diseases
, vol.45
, Issue.1
, pp. 77-87
-
-
Consugar, M.B.1
Anderson, S.A.2
Rossetti, S.3
Pankratz, V.S.4
Ward, C.J.5
Torra, R.6
Coto, E.7
El-Youssef, M.8
Kantarci, S.9
Utsch, B.10
Hildebrandt, F.11
Sweeney, W.E.12
Avner, E.D.13
Torres, V.E.14
Cunningham, J.M.15
Harris, P.C.16
-
55
-
-
3242705200
-
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene
-
DOI 10.1111/j.0009-9163.2004.00259.x
-
K Zerres J Senderek S Rudnik-Schoneborn T Eggermann J Kunze T Mononen H Kaariainen J Kirfel M Moser R Buettner C Bergmann 2004 New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene Clin Genet 66 53 57 15200508 1:STN:280:DC%2BD2c3pvFGhtA%3D%3D (Pubitemid 38960821)
-
(2004)
Clinical Genetics
, vol.66
, Issue.1
, pp. 53-57
-
-
Zerres, K.1
Senderek, J.2
Rudnik-Schoneborn, S.3
Eggermann, T.4
Kunze, J.5
Mononen, T.6
Kaariainen, H.7
Kirfel, J.8
Moser, M.9
Buettner, R.10
Bergmann, C.11
-
56
-
-
77956413044
-
Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification
-
EC Lau MM Janson MR Roesler ED Avner EY Strawn DP Bick 2010 Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification J Assist Reprod Genet 27 297 407
-
(2010)
J Assist Reprod Genet
, vol.27
, pp. 297-407
-
-
Lau, E.C.1
Janson, M.M.2
Roesler, M.R.3
Avner, E.D.4
Strawn, E.Y.5
Bick, D.P.6
-
57
-
-
66049084833
-
Autosomal recessive polycystic kidney disease
-
Copyright, University of Washington, Seattle. Initial posting July 2001, updated August 2008
-
Dell KM, Avner ED (2008) Autosomal recessive polycystic kidney disease. In: GeneClinics: Clinical Genetic Information Resource (database online). Copyright, University of Washington, Seattle. Available at http://www. geneclinics.org. Initial posting July 2001, updated August 2008
-
(2008)
GeneClinics: Clinical Genetic Information Resource (Database Online)
-
-
Dell, K.M.1
Avner, E.D.2
-
58
-
-
67249091839
-
Polycystic kidney disease
-
18947299 1:CAS:528:DC%2BD1MXitlyntLc%3D
-
PC Harris VE Torres 2009 Polycystic kidney disease Annu Rev Med 60 321 337 18947299 1:CAS:528:DC%2BD1MXitlyntLc%3D
-
(2009)
Annu Rev Med
, vol.60
, pp. 321-337
-
-
Harris, P.C.1
Torres, V.E.2
-
59
-
-
0023116954
-
Autosomal dominant polycystic kidney disease in childhood: A longitudinal study
-
A Sedman P Bell M Manco-Johnson R Schrier BA Warady ED Heard N Butler-Simon P Gabow 1987 Autosomal dominant polycystic kidney disease in childhood: a longitudinal study Kidney Int 31 1000 1005 3295357 1:STN:280:DyaL2s3islSmsg%3D%3D (Pubitemid 17044908)
-
(1987)
Kidney International
, vol.31
, Issue.4
, pp. 1000-1005
-
-
Sedman, A.1
Bell, P.2
Manco-Johnson, M.3
-
60
-
-
0025095857
-
The diagnosis and prognosis of autosomal dominant polycystic kidney disease
-
PS Parfrey JC Bear J Morgan BC Cramer PJ McManamon MH Gault DN Churchill M Singh R Hewitt 1990 The diagnosis and prognosis of autosomal dominant polycystic kidney disease N Engl J Med 323 1085 1090 2215575 1:STN:280:DyaK3M%2FhsFaitQ%3D%3D (Pubitemid 20370728)
-
(1990)
New England Journal of Medicine
, vol.323
, Issue.16
, pp. 1085-1090
-
-
Parfrey, P.S.1
Bear, J.C.2
Morgan, J.3
Cramer, B.C.4
McManamon, P.J.5
Gault, M.H.6
Churchill, D.N.7
Singh, M.8
Hewitt, R.9
Somlo, S.10
Reeders, S.T.11
-
61
-
-
0026466656
-
Genetic heterogeneity of polycystic kidney disease in Europe
-
1633713 1:STN:280:DyaK38zjvFaltg%3D%3D
-
DJ Peters LA Sandkuijl 1992 Genetic heterogeneity of polycystic kidney disease in Europe Contrib Nephrol 97 128 134 1633713 1:STN:280: DyaK38zjvFaltg%3D%3D
-
(1992)
Contrib Nephrol
, vol.97
, pp. 128-134
-
-
Peters, D.J.1
Sandkuijl, L.A.2
-
62
-
-
0027244418
-
Segregation analysis of autosomal dominant polycystic kidney disease
-
Dobin A, Kimberling WJ, Pettinger W, Bailey-Wilson JE, Shugart YY, Gabow P (1993) Segregation analysis of autosomal dominant polycystic kidney disease. Genet Epidemiol [Suppl 10]:189-200 (Pubitemid 23215495)
-
(1993)
Genetic Epidemiology
, vol.10
, Issue.3
, pp. 189-200
-
-
Dobin, A.1
Kimberling, W.J.2
Pettinger, W.3
Bailey-Wilson, J.E.4
Shugart, Y.Y.5
Gabow, P.6
-
63
-
-
68049138015
-
Family history of renal disease severity predicts the mutated gene in ADPKD
-
19443633 1:CAS:528:DC%2BD1MXhtVers7rF
-
M Barua O Cil AD Paterson K Wang N He E Dicks P Parfrey Y Pei 2009 Family history of renal disease severity predicts the mutated gene in ADPKD J Am Soc Nephrol 20 1833 1838 19443633 1:CAS:528:DC%2BD1MXhtVers7rF
-
(2009)
J Am Soc Nephrol
, vol.20
, pp. 1833-1838
-
-
Barua, M.1
Cil, O.2
Paterson, A.D.3
Wang, K.4
He, N.5
Dicks, E.6
Parfrey, P.7
Pei, Y.8
-
64
-
-
0029987326
-
An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene
-
AE Turco M Clementi S Rossetti R Tenconi PF Pignatti 1996 An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene Am J Kidney Dis 28 759 761 9158217 1:STN:280: DyaK2szgtFyguw%3D%3D (Pubitemid 26363906)
-
(1996)
American Journal of Kidney Diseases
, vol.28
, Issue.5
, pp. 759-761
-
-
Turco, A.E.1
Clementi, M.2
Rossetti, S.3
Tenconi, R.4
Pignatti, P.F.5
-
65
-
-
0035125616
-
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease
-
DOI 10.1086/318188
-
Y Pei AD Paterson KR Wang N He D Hefferton T Watnick GG Germino P Parfrey S Somlo P St George-Hyslop 2001 Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease Am J Hum Genet 68 355 363 11156533 1:STN:280:DC%2BD3M7ktlentg%3D%3D (Pubitemid 32147805)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.2
, pp. 355-363
-
-
Pei, Y.1
Paterson, A.D.2
Kai Rong Wang3
He, N.4
Hefferton, D.5
Watnick, T.6
Germino, G.G.7
Parfrey, P.8
Somlo, S.9
St. George-Hyslop, P.10
-
66
-
-
63949086532
-
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
-
19165178 1:CAS:528:DC%2BD1MXjsl2it7c%3D
-
S Rossetti VJ Kubly MB Consugar K Hopp S Roy SW Horsley D Chauveau L Rees TM Barratt WG van't Hoff WP Niaudet VE Torres PC Harris 2009 Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease Kidney Int 75 848 855 19165178 1:CAS:528: DC%2BD1MXjsl2it7c%3D
-
(2009)
Kidney Int
, vol.75
, pp. 848-855
-
-
Rossetti, S.1
Kubly, V.J.2
Consugar, M.B.3
Hopp, K.4
Roy, S.5
Horsley, S.W.6
Chauveau, D.7
Rees, L.8
Barratt, T.M.9
Van'T Hoff, W.G.10
Niaudet, W.P.11
Torres, V.E.12
Harris, P.C.13
-
67
-
-
34447286491
-
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease
-
DOI 10.1681/ASN.2006121387
-
S Rossetti MB Consugar AB Chapman VE Torres LM Guay-Woodford JJ Grantham WM Bennett CM Meyers DL Walker K Bae QJ Zhang PA Thompson JP Miller PC Harris 2007 Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease J Am Soc Nephrol 18 2143 2160 17582161 1:CAS:528:DC%2BD2sXotlWnur8%3D (Pubitemid 47041080)
-
(2007)
Journal of the American Society of Nephrology
, vol.18
, Issue.7
, pp. 2143-2160
-
-
Rossetti, S.1
Consugar, M.B.2
Chapman, A.B.3
Torres, V.E.4
Guay-Woodford, L.M.5
Grantham, J.J.6
Bennett, W.M.7
Meyers, C.M.8
Walker, D.L.9
Bae, K.10
Zhang, Q.11
Thompson, P.A.12
Miller, J.P.13
Harris, P.C.14
-
68
-
-
0033537164
-
Comparison of phonotypes of polycystic kidney disease types 1 and 2
-
DOI 10.1016/S0140-6736(98)03495-3
-
N Hateboer MA van Dijk N Bogdanova E Coto AK Saggar-Malik JL San Millan R Torra M Breuning D Ravine 1999 Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group Lancet 353 103 107 10023895 1:STN:280:DyaK1M7ks1Gjsg%3D%3D (Pubitemid 29088079)
-
(1999)
Lancet
, vol.353
, Issue.9147
, pp. 103-107
-
-
Hateboer, N.1
Dijk, M.A.V.2
Bogdanova, N.3
Coto, E.4
Saggar-Malik, A.K.5
San Millan, J.L.6
Torra, R.7
Breuning, M.8
Ravine, D.9
-
69
-
-
33750689517
-
Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease
-
DOI 10.1681/ASN.2006080835
-
PC Harris KT Bae S Rossetti VE Torres JJ Grantham AB Chapman LM Guay-Woodford BF King LH Wetzel DA Baumgarten PJ Kenney M Consugar S Klahr WM Bennett CM Meyers QJ Zhang PA Thompson F Zhu JP Miller 2006 Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease J Am Soc Nephrol 17 3013 3019 17035604 1:CAS:528:DC%2BD28Xht1yjtb3L (Pubitemid 44707761)
-
(2006)
Journal of the American Society of Nephrology
, vol.17
, Issue.11
, pp. 3013-3019
-
-
Harris, P.C.1
Bae, K.T.2
Rossetti, S.3
Torres, V.E.4
Grantham, J.J.5
Chapman, A.B.6
Guay-Woodford, L.M.7
King, B.F.8
Wetzel, L.H.9
Baumgarten, D.A.10
Kenney, P.J.11
Consugar, M.12
Klahr, S.13
Bennett, W.M.14
Meyers, C.M.15
Zhang, Q.16
Thompson, P.A.17
Zhu, F.18
Miller, J.P.19
-
70
-
-
0029002967
-
Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
-
Consortium TIPKD
-
Consortium TIPKD 1995 Polycystic kidney disease: the complete structure of the PKD1 gene and its protein Cell 81 289 298
-
(1995)
Cell
, vol.81
, pp. 289-298
-
-
-
71
-
-
0022410264
-
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
-
DOI 10.1038/317542a0
-
ST Reeders MH Breuning KE Davies RD Nicholls AP Jarman DR Higgs PL Pearson DJ Weatherall 1985 A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16 Nature 317 542 544 2995836 1:CAS:528:DyaL2MXlvFSrsbg%3D (Pubitemid 16224163)
-
(1985)
Nature
, vol.317
, Issue.6037
, pp. 542-544
-
-
Reeders, S.T.1
Breuning, M.H.2
Davies, K.E.3
-
73
-
-
0036239770
-
A complete mutation screen of the ADPKD genes by DHPLC
-
DOI 10.1046/j.1523-1755.2002.00326.x
-
S Rossetti D Chauveau D Walker A Saggar-Malik CG Winearls VE Torres PC Harris 2002 A complete mutation screen of the ADPKD genes by DHPLC Kidney Int 61 1588 1599 11967008 1:CAS:528:DC%2BD38XjvFWiu74%3D (Pubitemid 34437912)
-
(2002)
Kidney International
, vol.61
, Issue.5
, pp. 1588-1599
-
-
Rossetti, S.1
Chauveau, D.2
Walker, D.3
Saggar-Malik, A.4
Winearls, C.G.5
Torres, V.E.6
Harris, P.C.7
-
75
-
-
15844385078
-
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
-
T Mochizuki G Wu T Hayashi SL Xenophontos B Veldhuisen JJ Saris DM Reynolds Y Cai PA Gabow A Pierides WJ Kimberling MH Breuning CC Deltas DJ Peters S Somlo 1996 PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein Science 272 1339 1342 8650545 1:CAS:528: DyaK28Xjt1Okurk%3D (Pubitemid 26199975)
-
(1996)
Science
, vol.272
, Issue.5266
, pp. 1339-1342
-
-
Mochizuki, T.1
Wu, G.2
Hayashi, T.3
Xenophontos, S.L.4
Veldhuisen, B.5
Saris, J.J.6
Reynolds, D.M.7
Cai, Y.8
Gabow, P.A.9
Pierides, A.10
Kimberling, W.J.11
Breuning, M.H.12
Deltas, C.C.13
Peters, D.J.M.14
Somlo, S.15
-
76
-
-
0027452094
-
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
-
DOI 10.1038/ng1293-359
-
DJ Peters L Spruit JJ Saris D Ravine LA Sandkuijl R Fossdal J Boersma R van Eijk S Norby CD Constantinou-Deltas 1993 Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease Nat Genet 5 359 362 8298643 1:CAS:528:DyaK2cXkslWntw%3D%3D (Pubitemid 23351306)
-
(1993)
Nature Genetics
, vol.5
, Issue.4
, pp. 359-362
-
-
Peters, D.J.M.1
Spruit, L.2
Saris, J.J.3
Ravine, D.4
Sandkuijl, L.A.5
Fossdal, R.6
Boersma, J.7
Van Eijk, R.8
Norby, S.9
Constantinou-Deltas, C.D.10
Pierides, A.11
Brissenden, J.E.12
Frants, R.R.13
Van Ommen, G.-J.B.14
Breuning, M.H.15
-
77
-
-
0036122434
-
Polycystin-2 is an intracellular calcium release channel
-
DOI 10.1038/ncb754
-
P Koulen Y Cai L Geng Y Maeda S Nishimura R Witzgall BE Ehrlich S Somlo 2002 Polycystin-2 is an intracellular calcium release channel Nat Cell Biol 4 191 197 11854751 1:CAS:528:DC%2BD38XitF2hur4%3D (Pubitemid 34218192)
-
(2002)
Nature Cell Biology
, vol.4
, Issue.3
, pp. 191-197
-
-
Koulen, P.1
Cai, Y.2
Geng, L.3
Maeda, Y.4
Nishimura, S.5
Witzgall, R.6
Ehrlich, B.E.7
Somlo, S.8
-
78
-
-
34547535644
-
TRPP2 and autosomal dominant polycystic kidney disease
-
DOI 10.1016/j.bbadis.2007.01.003, PII S0925443907000051
-
M Kottgen 2007 TRPP2 and autosomal dominant polycystic kidney disease Biochim Biophys Acta 1772 836 850 17292589 (Pubitemid 47179879)
-
(2007)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1772
, Issue.8
, pp. 836-850
-
-
Kottgen, M.1
-
79
-
-
23144447954
-
New developments in the field of cystic kidney diseases
-
DOI 10.2174/1566524054553496
-
R Witzgall 2005 New developments in the field of cystic kidney diseases Curr Mol Med 5 455 465 16101475 1:CAS:528:DC%2BD2MXmvVyktLk%3D (Pubitemid 41086772)
-
(2005)
Current Molecular Medicine
, vol.5
, Issue.5
, pp. 455-465
-
-
Witzgall, R.1
-
80
-
-
0030887477
-
Molecular basis of renal cyst formation - One hit two?
-
DOI 10.1016/S0140-6736(05)62286-6
-
AC Ong PC Harris 1997 Molecular basis of renal cyst formation-one hit or two? Lancet 349 1039 1040 9107237 1:STN:280:DyaK2s3mtFarsQ%3D%3D (Pubitemid 27158244)
-
(1997)
Lancet
, vol.349
, Issue.9058
, pp. 1039-1040
-
-
Ong, A.C.M.1
Harris, P.C.2
-
81
-
-
0032802914
-
Molecular basis of autosomal dominant polycystic kidney disease
-
T Watnick GG Germino 1999 Molecular basis of autosomal dominant polycystic kidney disease Semin Nephrol 19 327 343 10435671 1:CAS:528: DyaK1MXltVKnu70%3D (Pubitemid 29340495)
-
(1999)
Seminars in Nephrology
, vol.19
, Issue.4
, pp. 327-343
-
-
Watnick, T.1
Germino, G.G.2
-
82
-
-
0037320210
-
Autosomal dominant polycystic kidney disease: Molecular genetics and pathophysiology
-
DOI 10.1067/mlc.2003.13
-
M Sutters GG Germino 2003 Autosomal dominant polycystic kidney disease: molecular genetics and pathophysiology J Lab Clin Med 141 91 101 12577044 (Pubitemid 36216561)
-
(2003)
Journal of Laboratory and Clinical Medicine
, vol.141
, Issue.2
, pp. 91-101
-
-
Sutters, M.1
Germino, G.G.2
-
83
-
-
0043133391
-
Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells
-
DOI 10.1093/hmg/ddg190
-
Q Qian LW Hunter M Li M Marin-Padilla YS Prakash S Somlo PC Harris VE Torres GC Sieck 2003 Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells Hum Mol Genet 12 1875 1880 12874107 1:CAS:528:DC%2BD3sXlslOjsbg%3D (Pubitemid 36944141)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.15
, pp. 1875-1880
-
-
Qian, Q.1
Hunter, L.W.2
Li, M.3
Marin-Padilla, M.4
Prakash, Y.S.5
Somlo, S.6
Harris, P.C.7
Torres, V.E.8
Sieck, G.C.9
-
84
-
-
19944406428
-
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease
-
DOI 10.1093/hmg/ddh336
-
IS Lantinga-Van Leeuwen JG Dauwerse HJ Baelde WN Leonhard A van de Wal CJ Ward S Verbeek MC Deruiter MH Breuning E de Heer DJ Peters 2004 Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease Hum Mol Genet 13 3069 3077 15496422 1:CAS:528:DC%2BD2cXhtVClu7vP (Pubitemid 40045261)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.24
, pp. 3069-3077
-
-
Lantinga-Van Leeuwen, I.S.1
Dauwerse, J.G.2
Baelde, H.J.3
Leonhard, W.N.4
Van De Wal, A.5
Ward, C.J.6
Verbeek, S.7
DeRuiter, M.C.8
Breuning, M.H.9
De Heer, E.10
Peters, D.J.M.11
-
85
-
-
33745866295
-
A hypomorphic mutation in the mouse laminin α5 gene causes polycystic kidney disease
-
DOI 10.1681/ASN.2005121298
-
MB Shannon BL Patton SJ Harvey JH Miner 2006 A hypomorphic mutation in the mouse laminin alpha5 gene causes polycystic kidney disease J Am Soc Nephrol 17 1913 1922 16790509 1:CAS:528:DC%2BD28Xntlanurw%3D (Pubitemid 44036175)
-
(2006)
Journal of the American Society of Nephrology
, vol.17
, Issue.7
, pp. 1913-1922
-
-
Shannon, M.B.1
Patton, B.L.2
Harvey, S.J.3
Miner, J.H.4
-
86
-
-
0027925829
-
Medical progress: Autosomal dominant polycystic kidney disease
-
DOI 10.1056/NEJM199307293290508
-
P Gabow 1993 Autosomal dominant polycystic kidney disease New Engl J Med 329 332 342 8321262 1:STN:280:DyaK3szgvFGitw%3D%3D (Pubitemid 23210687)
-
(1993)
New England Journal of Medicine
, vol.329
, Issue.5
, pp. 332-342
-
-
Gabow, P.A.1
-
87
-
-
0025247229
-
Autosomal dominant polycystic kidney disease-more than a renal disease
-
2239929 1:STN:280:DyaK3M%2FltFGhsA%3D%3D
-
PA Gabow 1990 Autosomal dominant polycystic kidney disease-more than a renal disease Am J Kidney Dis 16 403 413 2239929 1:STN:280: DyaK3M%2FltFGhsA%3D%3D
-
(1990)
Am J Kidney Dis
, vol.16
, pp. 403-413
-
-
Gabow, P.A.1
-
88
-
-
0038317844
-
Autosomal dominant polycystic kidney disease
-
12708359
-
VE Torres PC Harris 2003 Autosomal dominant polycystic kidney disease Nefrologia 23 Suppl 1 14 22 12708359
-
(2003)
Nefrologia
, vol.23
, Issue.SUPPL. 1
, pp. 14-22
-
-
Torres, V.E.1
Harris, P.C.2
-
89
-
-
33847239212
-
Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort
-
17699192
-
KT Bae F Zhu AB Chapman VE Torres JJ Grantham LM Guay-Woodford DA Baumgarten BF King Jr LH Wetzel PJ Kenney BME Bennett KS WM CM Meyers X Zhang PA Thompson JP Miller 2006 Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort Clin J Am Soc Nephrol 1 64 69 17699192
-
(2006)
Clin J Am Soc Nephrol
, vol.1
, pp. 64-69
-
-
Bae, K.T.1
Zhu, F.2
Chapman, A.B.3
Torres, V.E.4
Grantham, J.J.5
Guay-Woodford, L.M.6
Baumgarten, D.A.7
King Jr., B.F.8
Wetzel, L.H.9
Kenney, P.J.10
Bennett, B.M.E.11
K, S.W.M.12
Meyers, C.M.13
Zhang, X.14
Thompson, P.A.15
Miller, J.P.16
-
90
-
-
44449147796
-
Treatment of autosomal dominant polycystic kidney disease (ADPKD): The new horizon for children with ADPKD
-
18259779
-
D Rizk A Chapman 2008 Treatment of autosomal dominant polycystic kidney disease (ADPKD): the new horizon for children with ADPKD Pediatr Nephrol 23 1029 1036 18259779
-
(2008)
Pediatr Nephrol
, vol.23
, pp. 1029-1036
-
-
Rizk, D.1
Chapman, A.2
-
91
-
-
0025141147
-
Hepatic cysts in autosomal dominant polycystic kidney disease
-
GT Everson 1990 Hepatic cysts in autosomal dominant polycystic kidney disease Mayo Clin Proc 65 1020 1025 2198393 1:STN:280:DyaK3czjtFCrtg%3D%3D (Pubitemid 20247051)
-
(1990)
Mayo Clinic Proceedings
, vol.65
, Issue.7
, pp. 1020-1025
-
-
Everson, G.T.1
-
92
-
-
33947670753
-
Normal values for renal length and volume as measured by magnetic resonance imaging
-
17699385
-
B Cheong R Muthupillai MF Rubin SD Flamm 2007 Normal values for renal length and volume as measured by magnetic resonance imaging Clin J Am Soc Nephrol 2 38 45 17699385
-
(2007)
Clin J Am Soc Nephrol
, vol.2
, pp. 38-45
-
-
Cheong, B.1
Muthupillai, R.2
Rubin, M.F.3
Flamm, S.D.4
-
93
-
-
0025876084
-
Pathogenesis of hypertension in autosomal dominant polycystic kidney disease
-
1767138 1:STN:280:DyaK387hsF2quw%3D%3D
-
AB Chapman RW Schrier 1991 Pathogenesis of hypertension in autosomal dominant polycystic kidney disease Semin Nephrol 11 653 660 1767138 1:STN:280:DyaK387hsF2quw%3D%3D
-
(1991)
Semin Nephrol
, vol.11
, pp. 653-660
-
-
Chapman, A.B.1
Schrier, R.W.2
-
94
-
-
7944234504
-
Characteristics of hypertension in young adults with autosomal dominant polycystic kidney disease compared with the general U.S. population
-
DOI 10.1016/j.amjhyper.2004.06.020, PII S0895706104008982
-
CL Kelleher KK McFann AM Johnson RW Schrier 2004 Characteristics of hypertension in young adults with autosomal dominant polycystic kidney disease compared with the general U.S. population Am J Hypertens 17 1029 1034 15533729 (Pubitemid 39469325)
-
(2004)
American Journal of Hypertension
, vol.17
, Issue.11
, pp. 1029-1034
-
-
Kelleher, C.L.1
McFann, K.K.2
Johnson, A.M.3
Schrier, R.W.4
-
95
-
-
0142218066
-
The role of parental hypertension in the frequency and age of diagnosis of hypertension in offspring with autosomal-dominant polycystic kidney disease
-
DOI 10.1046/j.1523-1755.2003.00264.x
-
RW Schrier AM Johnson K McFann AB Chapman 2003 The role of parental hypertension in the frequency and age of diagnosis of hypertension in offspring with autosomal-dominant polycystic kidney disease Kidney Int 64 1792 1799 14531813 (Pubitemid 37323709)
-
(2003)
Kidney International
, vol.64
, Issue.5
, pp. 1792-1799
-
-
Schrier, R.W.1
Johnson, A.M.2
McFann, K.3
Chapman, A.B.4
-
96
-
-
0026563828
-
Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease
-
1614046 1:STN:280:DyaK38zgvFOhuw%3D%3D
-
PA Gabow AM Johnson WD Kaehny WJ Kimberling DC Lezotte IT Duley RH Jones 1992 Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease Kidney Int 41 1311 1319 1614046 1:STN:280: DyaK38zgvFOhuw%3D%3D
-
(1992)
Kidney Int
, vol.41
, pp. 1311-1319
-
-
Gabow, P.A.1
Johnson, A.M.2
Kaehny, W.D.3
Kimberling, W.J.4
Lezotte, D.C.5
Duley, I.T.6
Jones, R.H.7
-
98
-
-
0031981387
-
Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease
-
KD MacDermot AK Saggar-Malik DL Economides S Jeffery 1998 Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease J Med Genet 35 13 16 9475088 1:STN:280:DyaK1c7jsFChuw%3D%3D (Pubitemid 28156485)
-
(1998)
Journal of Medical Genetics
, vol.35
, Issue.1
, pp. 13-16
-
-
MacDermot, K.D.1
Saggar-Malik, A.K.2
Economides, D.L.3
Jeffery, S.4
-
99
-
-
0042381672
-
Ambulatory blood pressure correlates with renal volume and number of renal cysts in children with autosomal dominant polycystic kidney disease
-
T Seeman J Dusek H Vondrichova M Kyncl U John J Misselwitz J Janda 2003 Ambulatory blood pressure correlates with renal volume and number of renal cysts in children with autosomal dominant polycystic kidney disease Blood Press Monit 8 107 110 12900587 (Pubitemid 37034565)
-
(2003)
Blood Pressure Monitoring
, vol.8
, Issue.3
, pp. 107-110
-
-
Seeman, T.1
Dusek, J.2
Vondrichova, H.3
Kyncl, M.4
John, U.5
Misselwitz, J.6
Janda, J.7
-
101
-
-
8744313664
-
A 4-year-old girl with autosomal dominant polycystic kidney disease complicated by a ruptured intracranial aneurysm
-
DOI 10.1007/s00431-004-1528-4
-
S Kubo M Nakajima K Fukuda M Nobayashi T Sakaki K Aoki Y Hirao A Yoshioka 2004 A 4-year-old girl with autosomal dominant polycystic kidney disease complicated by a ruptured intracranial aneurysm Eur J Pediatr 163 675 677 15322866 (Pubitemid 39517893)
-
(2004)
European Journal of Pediatrics
, vol.163
, Issue.11
, pp. 675-677
-
-
Kubo, S.1
Nakajima, M.2
Fukuda, K.3
Nobayashi, M.4
Sakaki, T.5
Aoki, K.6
Hirao, Y.7
Yoshioka, A.8
-
102
-
-
1642282163
-
Repeat Imaging for Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease with Initially Negative Studies: A Prospective Ten-Year Follow-up
-
DOI 10.1097/01.ASN.0000118527.74850.66
-
RW Schrier MM Belz AM Johnson WD Kaehny RL Hughes D Rubinstein PA Gabow 2004 Repeat imaging for intracranial aneurysms in patients with autosomal dominant polycystic kidney disease with initially negative studies: a prospective ten-year follow-up J Am Soc Nephrol 15 1023 1028 15034105 (Pubitemid 38375321)
-
(2004)
Journal of the American Society of Nephrology
, vol.15
, Issue.4
, pp. 1023-1028
-
-
Schrier, R.W.1
Belz, M.M.2
Johnson, A.M.3
Kaehny, W.D.4
Hughes, R.L.5
Rubinstein, D.6
Gabow, P.A.7
-
103
-
-
49149119646
-
Approaches to testing new treatments in autosomal dominant polycystic kidney disease: Insights from the CRISP and HALT-PKD studies
-
18579674 1:CAS:528:DC%2BD1cXovFeksro%3D
-
AB Chapman 2008 Approaches to testing new treatments in autosomal dominant polycystic kidney disease: insights from the CRISP and HALT-PKD studies Clin J Am Soc Nephrol 3 1197 1204 18579674 1:CAS:528:DC%2BD1cXovFeksro%3D
-
(2008)
Clin J Am Soc Nephrol
, vol.3
, pp. 1197-1204
-
-
Chapman, A.B.1
-
104
-
-
0034001830
-
Effect of antihypertensive therapy on renal function and urinary albumin excretion in hypertensive patients with autosomal dominant polycystic kidney disease
-
10692268 1:CAS:528:DC%2BD3cXhvFGiu7o%3D
-
T Ecder AB Chapman GM Brosnahan CL Edelstein AM Johnson RW Schrier 2000 Effect of antihypertensive therapy on renal function and urinary albumin excretion in hypertensive patients with autosomal dominant polycystic kidney disease Am J Kidney Dis 35 427 432 10692268 1:CAS:528:DC%2BD3cXhvFGiu7o%3D
-
(2000)
Am J Kidney Dis
, vol.35
, pp. 427-432
-
-
Ecder, T.1
Chapman, A.B.2
Brosnahan, G.M.3
Edelstein, C.L.4
Johnson, A.M.5
Schrier, R.W.6
-
105
-
-
33646678189
-
Volume progression in polycystic kidney disease
-
DOI 10.1056/NEJMoa054341
-
JJ Grantham VE Torres AB Chapman LM Guay-Woodford KT Bae BF King Jr LH Wetzel DA Baumgarten PJ Kenney PC Harris S Klahr WM Bennett GN Hirschman CM Meyers X Zhang F Zhu JP Miller 2006 Volume progression in polycystic kidney disease N Engl J Med 354 2122 2130 16707749 1:CAS:528:DC%2BD28XkslCrsr0%3D (Pubitemid 43736612)
-
(2006)
New England Journal of Medicine
, vol.354
, Issue.20
, pp. 2122-2130
-
-
Grantham, J.J.1
Torres, V.E.2
Chapman, A.B.3
Guay-Woodford, L.M.4
Bae, K.T.5
King Jr., B.F.6
Wetzel, L.H.7
Baumgarten, D.A.8
Kenney, P.J.9
Harris, P.C.10
Klahr, S.11
Bennett, W.M.12
Hirschman, G.N.13
Meyers, C.M.14
Zhang, X.15
Zhu, F.16
Miller, J.P.17
-
106
-
-
0028351429
-
Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1
-
DOI 10.1016/S0140-6736(94)92026-5
-
D Ravine RN Gibson RG Walker LJ Sheffield P Kincaid-Smith DM Danks 1994 Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1 Lancet 343 824 827 7908078 1:STN:280: DyaK2c7oslClsQ%3D%3D (Pubitemid 24147512)
-
(1994)
Lancet
, vol.343
, Issue.8901
, pp. 824-827
-
-
Ravine, D.1
Gibson, R.N.2
Walker, R.G.3
Sheffield, L.J.4
Kincaid-Smith, P.5
Danks, D.M.6
-
107
-
-
58149504279
-
Unified criteria for ultrasonographic diagnosis of ADPKD
-
18945943 1:CAS:528:DC%2BD1MXhvV2lu78%3D
-
Y Pei J Obaji A Dupuis AD Paterson R Magistroni E Dicks P Parfrey B Cramer E Coto R Torra JL San Millan R Gibson M Breuning D Peters D Ravine 2009 Unified criteria for ultrasonographic diagnosis of ADPKD J Am Soc Nephrol 20 205 212 18945943 1:CAS:528:DC%2BD1MXhvV2lu78%3D
-
(2009)
J Am Soc Nephrol
, vol.20
, pp. 205-212
-
-
Pei, Y.1
Obaji, J.2
Dupuis, A.3
Paterson, A.D.4
Magistroni, R.5
Dicks, E.6
Parfrey, P.7
Cramer, B.8
Coto, E.9
Torra, R.10
San Millan, J.L.11
Gibson, R.12
Breuning, M.13
Peters, D.14
Ravine, D.15
-
109
-
-
3142776183
-
Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: A multicenter study
-
DOI 10.1002/uog.1098
-
M Brun B Maugey-Laulom D Eurin F Didier EF Avni 2004 Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study Ultrasound Obstet Gynecol 24 55 61 15229917 1:STN:280:DC%2BD2czivVCktw%3D%3D (Pubitemid 38932248)
-
(2004)
Ultrasound in Obstetrics and Gynecology
, vol.24
, Issue.1
, pp. 55-61
-
-
Brun, M.1
Maugey-Laulom, B.2
Eurin, D.3
Didier, F.4
Avni, E.F.5
-
110
-
-
33845910363
-
Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study
-
DOI 10.1002/uog.3856
-
K Chaumoitre M Brun M Cassart B Maugey-Laulom D Eurin F Didier EF Avni 2006 Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study Ultrasound Obstet Gynecol 28 911 917 17094077 1:STN:280:DC%2BD28npsF2msQ%3D%3D (Pubitemid 46025209)
-
(2006)
Ultrasound in Obstetrics and Gynecology
, vol.28
, Issue.7
, pp. 911-917
-
-
Chaumoitre, K.1
Brun, M.2
Cassart, M.3
Maugey-Laulom, B.4
Eurin, D.5
Didier, F.6
Avni, E.F.7
-
112
-
-
0031020062
-
Ultrasonographic study of pancreatic cysts in autosomal dominant polycystic kidney disease
-
R Torra C Nicolau C Badenas S Navarro L Perez X Estivill A Darnell 1997 Ultrasonographic study of pancreatic cysts in autosomal dominant polycystic kidney disease Clin Nephrol 47 19 22 9021236 1:STN:280:DyaK2s7ntlegsg%3D%3D (Pubitemid 27052799)
-
(1997)
Clinical Nephrology
, vol.47
, Issue.1
, pp. 19-22
-
-
Torra, R.1
Nicolau, C.2
Badenas, C.3
Navarro, S.4
Perez, L.5
Estivill, X.6
Darnell, A.7
-
113
-
-
12444274302
-
Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohort
-
DOI 10.1046/j.1523-1755.2003.00185.x
-
AB Chapman LM Guay-Woodford JJ Grantham VE Torres KT Bae DA Baumgarten PJ Kenney BF King Jr JF Glockner LH Wetzel ME Brummer WC O'Neill ML Robbin WM Bennett S Klahr GH Hirschman PL Kimmel PA Thompson JP Miller 2003 Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohort Kidney Int 64 1035 1045 12911554 (Pubitemid 37013840)
-
(2003)
Kidney International
, vol.64
, Issue.3
, pp. 1035-1045
-
-
Chapman, A.B.1
Guay-Woodford, L.M.2
Grantham, J.J.3
Torres, V.E.4
Bae, K.T.5
Baumgarten, D.A.6
Kenney, P.J.7
King Jr., B.F.8
Glockner, J.F.9
Wetzel, L.H.10
Brummer, M.E.11
O'Neill, W.C.12
Robbin, M.L.13
Bennett, W.M.14
Klahr, S.15
Hirschman, G.H.16
Kimmel, P.L.17
Thompson, P.A.18
Miller, J.P.19
-
114
-
-
37249043883
-
Determinants of renal volume in autosomal-dominant polycystic kidney disease
-
DOI 10.1038/sj.ki.5002624, PII 5002624
-
JJ Grantham LT Cook VE Torres JE Bost AB Chapman PC Harris LM Guay-Woodford KT Bae 2008 Determinants of renal volume in autosomal-dominant polycystic kidney disease Kidney Int 73 108 116 17960141 1:STN:280: DC%2BD2sjkt1ansg%3D%3D (Pubitemid 350273644)
-
(2008)
Kidney International
, vol.73
, Issue.1
, pp. 108-116
-
-
Grantham, J.J.1
Cook, L.T.2
Torres, V.E.3
Bost, J.E.4
Chapman, A.B.5
Harris, P.C.6
Guay-Woodford, L.M.7
Bae, K.T.8
-
115
-
-
34047273663
-
Magnetic resonance measurements of renal blood flow and disease progression in autosomal dominant polycystic kidney disease
-
17699395
-
VE Torres BF King AB Chapman ME Brummer KT Bae JF Glockner K Arya D Risk JP Felmlee JJ Grantham LM Guay-Woodford WM Bennett S Klahr CM Meyers X Zhang PA Thompson JP Miller 2007 Magnetic resonance measurements of renal blood flow and disease progression in autosomal dominant polycystic kidney disease Clin J Am Soc Nephrol 2 112 120 17699395
-
(2007)
Clin J Am Soc Nephrol
, vol.2
, pp. 112-120
-
-
Torres, V.E.1
King, B.F.2
Chapman, A.B.3
Brummer, M.E.4
Bae, K.T.5
Glockner, J.F.6
Arya, K.7
Risk, D.8
Felmlee, J.P.9
Grantham, J.J.10
Guay-Woodford, L.M.11
Bennett, W.M.12
Klahr, S.13
Meyers, C.M.14
Zhang, X.15
Thompson, P.A.16
Miller, J.P.17
-
116
-
-
0028607629
-
Polycystic kidney disease-a truly pediatric problem
-
7696122 1:STN:280:DyaK2M3htVWjsQ%3D%3D
-
MR Ogborn 1994 Polycystic kidney disease-a truly pediatric problem Pediatr Nephrol 8 762 767 7696122 1:STN:280:DyaK2M3htVWjsQ%3D%3D
-
(1994)
Pediatr Nephrol
, vol.8
, pp. 762-767
-
-
Ogborn, M.R.1
-
117
-
-
0025311426
-
Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease
-
DOI 10.1016/0301-5629(90)90065-K
-
A Reuss JW Wladimiroff PA Stewart MF Niermeijer 1990 Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease Ultrasound Med Biol 16 355 359 2204162 1:STN:280:DyaK3czntFKmtQ%3D%3D (Pubitemid 20241979)
-
(1990)
Ultrasound in Medicine and Biology
, vol.16
, Issue.4
, pp. 355-359
-
-
Reuss, A.1
Wladimiroff, J.W.2
Stewart, P.A.3
Niermeijer, M.F.4
-
118
-
-
38749112619
-
Molecular diagnostics in autosomal dominant polycystic kidney disease: Utility and limitations
-
18077784
-
X Zhao AD Paterson A Zahirieh N He K Wang Y Pei 2008 Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations Clin J Am Soc Nephrol 3 146 152 18077784
-
(2008)
Clin J Am Soc Nephrol
, vol.3
, pp. 146-152
-
-
Zhao, X.1
Paterson, A.D.2
Zahirieh, A.3
He, N.4
Wang, K.5
Pei, Y.6
-
119
-
-
14744300178
-
PGD for autosomal dominant polycystic kidney disease type 1
-
DOI 10.1093/molehr/gah128
-
M De Rycke I Georgiou K Sermon W Lissens P Henderix H Joris P Platteau A Van Steirteghem I Liebaers 2005 PGD for autosomal dominant polycystic kidney disease type 1 Mol Hum Reprod 11 65 71 15591452 (Pubitemid 40331004)
-
(2005)
Molecular Human Reproduction
, vol.11
, Issue.1
, pp. 65-71
-
-
De Rycke, M.1
Georgiou, I.2
Sermon, K.3
Lissens, W.4
Henderix, P.5
Joris, H.6
Platteau, P.7
Van Steirteghem, A.8
Liebaers, I.9
-
120
-
-
38749105499
-
Molecular diagnostics of ADPKD coming of age
-
18178778
-
PC Harris S Rossetti 2008 Molecular diagnostics of ADPKD coming of age Clin J Am Soc Nephrol 3 1 2 18178778
-
(2008)
Clin J Am Soc Nephrol
, vol.3
, pp. 1-2
-
-
Harris, P.C.1
Rossetti, S.2
-
121
-
-
77449134764
-
Diagnosis and screening of autosomal dominant polycystic kidney disease
-
20219617
-
Y Pei T Watnick 2010 Diagnosis and screening of autosomal dominant polycystic kidney disease Adv Chronic Kidney Dis 17 140 152 20219617
-
(2010)
Adv Chronic Kidney Dis
, vol.17
, pp. 140-152
-
-
Pei, Y.1
Watnick, T.2
-
122
-
-
49149105869
-
Role of vasopressin antagonists
-
Torres VE (2008) Role of vasopressin antagonists. Clin J Am Soc Nephrol 3:1212-1218
-
(2008)
Clin J Am Soc Nephrol
, vol.3
, pp. 1212-1218
-
-
Torres, V.E.1
-
123
-
-
63849273195
-
Advances in the pathogenesis and treatment of polycystic kidney disease
-
19430332 1:CAS:528:DC%2BD1MXltVWrsbY%3D
-
V Patel R Chowdhury P Igarashi 2009 Advances in the pathogenesis and treatment of polycystic kidney disease Curr Opin Nephrol Hypertens 18 99 106 19430332 1:CAS:528:DC%2BD1MXltVWrsbY%3D
-
(2009)
Curr Opin Nephrol Hypertens
, vol.18
, pp. 99-106
-
-
Patel, V.1
Chowdhury, R.2
Igarashi, P.3
-
124
-
-
67649844614
-
Polycystins and primary cilia: Primers for cell cycle progression
-
19572811 1:CAS:528:DC%2BD1MXjsValsLg%3D
-
J Zhou 2009 Polycystins and primary cilia: primers for cell cycle progression Annu Rev Physiol 71 83 113 19572811 1:CAS:528:DC%2BD1MXjsValsLg%3D
-
(2009)
Annu Rev Physiol
, vol.71
, pp. 83-113
-
-
Zhou, J.1
-
125
-
-
0037513435
-
Cyclic AMP activates B-Raf and ERK in cyst epithelial cells from autosomal-dominant polycystic kidneys
-
DOI 10.1046/j.1523-1755.2003.00023.x
-
T Yamaguchi S Nagao DP Wallace FA Belibi BD Cowley JC Pelling JJ Grantham 2003 Cyclic AMP activates B-Raf and ERK in cyst epithelial cells from autosomal-dominant polycystic kidneys Kidney Int 63 1983 1994 12753285 1:CAS:528:DC%2BD3sXkvVyiurw%3D (Pubitemid 36605809)
-
(2003)
Kidney International
, vol.63
, Issue.6
, pp. 1983-1994
-
-
Yamaguchi, T.1
Nagao, S.2
Wallace, D.P.3
Belibi, F.A.4
Cowley Jr., B.D.5
Pelling, J.C.6
Grantham, J.J.7
-
126
-
-
0034126459
-
cAMP stimulates the in vitro proliferation of renal cyst epithelial cells by activating the extracellular signal-regulated kinase pathway
-
DOI 10.1046/j.1523-1755.2000.00991.x
-
T Yamaguchi JC Pelling NT Ramaswamy JW Eppler DP Wallace S Nagao LA Rome LP Sullivan JJ Grantham 2000 cAMP stimulates the in vitro proliferation of renal cyst epithelial cells by activating the extracellular signal-regulated kinase pathway Kidney Int 57 1460 1471 10760082 1:CAS:528:DC%2BD3cXjtVOrt7g%3D (Pubitemid 30207906)
-
(2000)
Kidney International
, vol.57
, Issue.4
, pp. 1460-1471
-
-
Yamaguchi, T.1
Pelling, J.C.2
Ramaswamy, N.T.3
Eppler, J.W.4
Wallace, D.P.5
Nagao, S.6
Rome, L.A.7
Sullivan, L.P.8
Grantham, J.J.9
-
127
-
-
4644367485
-
Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype
-
DOI 10.1074/jbc.M405079200
-
T Yamaguchi DP Wallace BS Magenheimer SJ Hempson JJ Grantham JP Calvet 2004 Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype J Biol Chem 279 40419 40430 15263001 1:CAS:528:DC%2BD2cXnslWnsLw%3D (Pubitemid 39287631)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.39
, pp. 40419-40430
-
-
Yamaguchi, T.1
Wallace, D.P.2
Magenheimer, B.S.3
Hempson, S.J.4
Grantham, J.J.5
Calvet, J.P.6
-
128
-
-
73949104449
-
Safety and tolerability of sirolimus treatment in patients with autosomal dominant polycystic kidney disease
-
19525519 1:CAS:528:DC%2BD1MXhtlSgsr3L
-
AL Serra AD Kistler D Poster F Krauer O Senn S Raina I Pavik K Rentsch A Regeniter D Weishaupt RP Wuthrich 2009 Safety and tolerability of sirolimus treatment in patients with autosomal dominant polycystic kidney disease Nephrol Dial Transplant 24 3334 3342 19525519 1:CAS:528:DC%2BD1MXhtlSgsr3L
-
(2009)
Nephrol Dial Transplant
, vol.24
, pp. 3334-3342
-
-
Serra, A.L.1
Kistler, A.D.2
Poster, D.3
Krauer, F.4
Senn, O.5
Raina, S.6
Pavik, I.7
Rentsch, K.8
Regeniter, A.9
Weishaupt, D.10
Wuthrich, R.P.11
-
129
-
-
77952986486
-
Sirolimus therapy to halt the progression of ADPKD
-
20466742 1:CAS:528:DC%2BC3cXot1Gru7g%3D
-
N Perico L Antiga A Caroli P Ruggenenti G Fasolini M Cafaro P Ondei N Rubis O Diadei G Gherardi S Prandini A Panozo RF Bravo S Carminati FR De Leon F Gaspari M Cortinovis N Motterlini B Ene-Iordache A Remuzzi G Remuzzi 2010 Sirolimus therapy to halt the progression of ADPKD J Am Soc Nephrol 21 1031 1040 20466742 1:CAS:528:DC%2BC3cXot1Gru7g%3D
-
(2010)
J Am Soc Nephrol
, vol.21
, pp. 1031-1040
-
-
Perico, N.1
Antiga, L.2
Caroli, A.3
Ruggenenti, P.4
Fasolini, G.5
Cafaro, M.6
Ondei, P.7
Rubis, N.8
Diadei, O.9
Gherardi, G.10
Prandini, S.11
Panozo, A.12
Bravo, R.F.13
Carminati, S.14
De Leon, F.R.15
Gaspari, F.16
Cortinovis, M.17
Motterlini, N.18
Ene-Iordache, B.19
Remuzzi, A.20
Remuzzi, G.21
more..
-
130
-
-
77957595691
-
Sirolimus attenuates disease progression in an orthologous mouse model of human autosomal dominant polycystic kidney disease
-
10.1038/ki.2010.250 20686448
-
I Zafar K Ravichandran FA Belibi RB Doctor CL Edelstein 2010 Sirolimus attenuates disease progression in an orthologous mouse model of human autosomal dominant polycystic kidney disease Kidney Int 10.1038/ki.2010.250 20686448
-
(2010)
Kidney Int
-
-
Zafar, I.1
Ravichandran, K.2
Belibi, F.A.3
Doctor, R.B.4
Edelstein, C.L.5
-
131
-
-
77949887674
-
Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1
-
20075061 1:CAS:528:DC%2BC3cXjvFClu70%3D
-
JM Shillingford KB Piontek GG Germino T Weimbs 2010 Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1 J Am Soc Nephrol 21 489 497 20075061 1:CAS:528:DC%2BC3cXjvFClu70%3D
-
(2010)
J Am Soc Nephrol
, vol.21
, pp. 489-497
-
-
Shillingford, J.M.1
Piontek, K.B.2
Germino, G.G.3
Weimbs, T.4
-
132
-
-
77951967599
-
The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease
-
20460933 1:CAS:528:DC%2BC3cXntFSjtbg%3D
-
JU Becker AO Saez K Zerres O Witzke PF Hoyer KW Schmid A Kribben C Bergmann J Nurnberger 2010 The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease Kidney Blood Press Res 33 129 138 20460933 1:CAS:528:DC%2BC3cXntFSjtbg%3D
-
(2010)
Kidney Blood Press Res
, vol.33
, pp. 129-138
-
-
Becker, J.U.1
Saez, A.O.2
Zerres, K.3
Witzke, O.4
Hoyer, P.F.5
Schmid, K.W.6
Kribben, A.7
Bergmann, C.8
Nurnberger, J.9
-
134
-
-
0027326851
-
Renal cystic disease in the tuberous sclerosis complex
-
J Bernstein 1993 Renal cystic disease in the tuberous sclerosis complex Pediatr Nephrol 7 490 495 8398665 1:STN:280:DyaK2c%2FgtFChuw%3D%3D (Pubitemid 23258886)
-
(1993)
Pediatric Nephrology
, vol.7
, Issue.4
, pp. 490-495
-
-
Bernstein, J.1
-
135
-
-
77949882117
-
The tuberous sclerosis complex
-
20146692 1:CAS:528:DC%2BC3cXivVegtL8%3D
-
KA Orlova PB Crino 2010 The tuberous sclerosis complex Ann N Y Acad Sci
-
(2010)
Ann N y Acad Sci
, vol.1184
, pp. 87-105
-
-
Orlova, K.A.1
Crino, P.B.2
-
136
-
-
42649139610
-
Clinical manifestations of hereditary cystic kidney disease
-
DOI 10.2741/2999
-
R Rohatgi 2008 Clinical manifestations of hereditary cystic kidney disease Front Biosci 13 4175 4197 18508505 1:CAS:528:DC%2BD1cXnsVKqu7Y%3D (Pubitemid 351599680)
-
(2008)
Frontiers in Bioscience
, vol.13
, Issue.11
, pp. 4175-4197
-
-
Rohatgi, R.1
-
137
-
-
75749109817
-
Recognition and management of the infant with Beckwith-Wiedemann Syndrome
-
20010144
-
PS Spivey WT Bradshaw 2009 Recognition and management of the infant with Beckwith-Wiedemann Syndrome Adv Neonatal Care 9 279 284 20010144
-
(2009)
Adv Neonatal Care
, vol.9
, pp. 279-284
-
-
Spivey, P.S.1
Bradshaw, W.T.2
-
138
-
-
57149137336
-
Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease
-
18815778
-
G Currarino 2009 Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease Pediatr Radiol 39 47 52 18815778
-
(2009)
Pediatr Radiol
, vol.39
, pp. 47-52
-
-
Currarino, G.1
-
139
-
-
0037900924
-
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
-
CA Johnson P Gissen C Sergi 2003 Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes J Med Genet 40 311 319 12746391 1:CAS:528:DC%2BD3sXmt1GksLw%3D (Pubitemid 36613466)
-
(2003)
Journal of Medical Genetics
, vol.40
, Issue.5
, pp. 311-319
-
-
Johnson, C.A.1
Gissen, P.2
Sergi, C.3
-
140
-
-
58149504281
-
Nephronophthisis: Disease mechanisms of a ciliopathy
-
19118152 1:CAS:528:DC%2BD1MXhvV2ltbg%3D
-
F Hildebrandt M Attanasio E Otto 2009 Nephronophthisis: disease mechanisms of a ciliopathy J Am Soc Nephrol 20 23 35 19118152 1:CAS:528:DC%2BD1MXhvV2ltbg%3D
-
(2009)
J Am Soc Nephrol
, vol.20
, pp. 23-35
-
-
Hildebrandt, F.1
Attanasio, M.2
Otto, E.3
-
142
-
-
32544439376
-
Ultrasonographic soft markers of aneuploidy in second trimester: Are we lost?
-
S Raniga PD Desai H Parikh 2006 Ultrasonographic soft markers of aneuploidy in second trimester: are we lost? Med Gen Med 8 9
-
(2006)
Med Gen Med
, vol.8
, pp. 9
-
-
Raniga, S.1
Desai, P.D.2
Parikh, H.3
-
143
-
-
33845336846
-
Peroxisome biogenesis disorders
-
DOI 10.1016/j.bbamcr.2006.09.010, PII S0167488906002874, Peroxisomes: Morphology, Function, Biogenesis and Disorders
-
SJ Steinberg G Dodt GV Raymond NE Braverman AB Moser HW Moser 2006 Peroxisome biogenesis disorders Biochim Biophys Acta 1763 1733 1748 17055079 1:CAS:528:DC%2BD28XhtlakurnJ (Pubitemid 44880484)
-
(2006)
Biochimica et Biophysica Acta - Molecular Cell Research
, vol.1763
, Issue.12
, pp. 1733-1748
-
-
Steinberg, S.J.1
Dodt, G.2
Raymond, G.V.3
Braverman, N.E.4
Moser, A.B.5
Moser, H.W.6
-
144
-
-
70350519147
-
Ultrasound versus computerized tomography for evaluating urolithiasis
-
19692054
-
C Passerotti JS Chow A Silva CL Schoettler I Rosoklija J Perez-Rossello M Cendron BG Cilento RS Lee CP Nelson CR Estrada SB Bauer JG Borer DA Diamond AB Retik HT Nguyen 2009 Ultrasound versus computerized tomography for evaluating urolithiasis J Urol 182 1829 1834 19692054
-
(2009)
J Urol
, vol.182
, pp. 1829-1834
-
-
Passerotti, C.1
Chow, J.S.2
Silva, A.3
Schoettler, C.L.4
Rosoklija, I.5
Perez-Rossello, J.6
Cendron, M.7
Cilento, B.G.8
Lee, R.S.9
Nelson, C.P.10
Estrada, C.R.11
Bauer, S.B.12
Borer, J.G.13
Diamond, D.A.14
Retik, A.B.15
Nguyen, H.T.16
-
145
-
-
59349093491
-
Caliceal diverticula in children: Natural history and management
-
Estrada CR, Datta S, Schneck FX, Bauer SB, Peters CA, Retik AB (2009) Caliceal diverticula in children: natural history and management. J Urol 181:1306-1311
-
(2009)
J Urol
, vol.181
, pp. 1306-1311
-
-
Estrada, C.R.1
Datta, S.2
Schneck, F.X.3
Bauer, S.B.4
Peters, C.A.5
Retik, A.B.6
-
146
-
-
67749119957
-
Postnatal evaluation of infants with an abnormal antenatal renal sonogram
-
19663038
-
AM Becker 2009 Postnatal evaluation of infants with an abnormal antenatal renal sonogram Curr Opin Pediatr 21 207 213 19663038
-
(2009)
Curr Opin Pediatr
, vol.21
, pp. 207-213
-
-
Becker, A.M.1
|