-
2
-
-
84883877798
-
Polycystic kidney disease, autosomal dominant
-
University of Washington, Seattle 1997-2008, Available at, Accessed November 10
-
Harris PC, Torres VE. Polycystic kidney disease, autosomal dominant. In: GeneReviews at GeneTests: Medical Genetics Information Resource. University of Washington, Seattle 1997-2008. Available at http://www.genetests.org. Accessed November 10, 2010.
-
(2010)
GeneReviews at Gene Tests: Medical Genetics Information Resource
-
-
Harris, P.C.1
Torres, V.E.2
-
3
-
-
33644651269
-
New advances in evaluation and management of patients with polycystic liver disease
-
Arnold HL, Harrison SA. New advances in evaluation and management of patients with polycystic liver disease. Am J Gastroenterol 2005;100:2569-82.
-
(2005)
Am J Gastroenterol
, vol.100
, pp. 2569-82
-
-
Arnold, H.L.1
Harrison, S.A.2
-
4
-
-
0029069583
-
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
-
Hughes J, Ward CJ, Peral B, et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 1995;10:151-60.
-
(1995)
Nat Genet
, vol.10
, pp. 151-60
-
-
Hughes, J.1
Ward, C.J.2
Peral, B.3
-
5
-
-
15844385078
-
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
-
Mochizuki T, Wu G, Hayashi T, et al. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996;272:1339-42. (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
-
6
-
-
0033537164
-
Comparison of phonotypes of polycystic kidney disease types 1 and 2
-
DOI 10.1016/S0140-6736(98)03495-3
-
Hateboer N, Dijk MA, Bogdanova N, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 study group. Lancet 1999;353:103-7. (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
-
7
-
-
84944433555
-
Aromatic carboxylic acids in urine. II. A quantitative method for the determination of (5-hydroxy-3-indolyl) - acetic acid and vanillinmandelic acid from urine, and some problems of methodology (author's transl)
-
Gartzke J, Majewski E. Aromatic carboxylic acids in urine. II. A quantitative method for the determination of (5-hydroxy-3-indolyl)- acetic acid and vanillinmandelic acid from urine, and some problems of methodology (author's transl). Z Klin Chem Klin Biochem 1972;10:108-11.
-
(1972)
Z Klin Chem Klin Biochem
, vol.10
, pp. 108-11
-
-
Gartzke, J.1
Majewski, E.2
-
8
-
-
0037789604
-
Autosomal recessive polycystic kidney disease (ARPKD)
-
Zerres K, Rudnik-Schoneborn S, Senderek J, et al. Autosomal recessive polycystic kidney disease (ARPKD). J Nephrol 2003;16:453-8. (Pubitemid 36773200)
-
(2003)
Journal of Nephrology
, vol.16
, Issue.3
, pp. 453-458
-
-
Zerres, K.1
Rudnik-Schoneborn, S.2
Senderek, J.3
Eggermann, T.4
Bergmann, C.5
-
9
-
-
77953304171
-
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease
-
Gunay-Aygun M, Font-Montgomery E, Lukose L, et al. Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol 2010;5:972-84.
-
(2010)
Clin J Am Soc Nephrol
, vol.5
, pp. 972-84
-
-
Gunay-Aygun, M.1
Font-Montgomery, E.2
Lukose, L.3
-
10
-
-
33746655404
-
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a First National Institutes of Health/Office of Rare Diseases conference
-
DOI 10.1016/j.jpeds.2006.03.014, PII S0022347606001867
-
Gunay-Aygun M, Avner ED, Bacallao RL, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr 2006;149:159-64. (Pubitemid 44144487)
-
(2006)
Journal of Pediatrics
, vol.149
, Issue.2
, pp. 159-164
-
-
Gunay-Aygun, M.1
Avner, E.D.2
Bacallao, R.L.3
Choyke, P.L.4
Flynn, J.T.5
Germino, G.G.6
Guay-Woodford, L.7
Harris, P.8
Heller, T.9
Ingelfinger, J.10
Kaskel, F.11
Kleta, R.12
LaRusso, N.F.13
Mohan, P.14
Pazour, G.J.15
Shneider, B.L.16
Torres, V.E.17
Wilson, P.18
Zak, C.19
Zhou, J.20
Gahl, W.A.21
more..
-
11
-
-
33646678189
-
Volume progression in polycystic kidney disease
-
DOI 10.1056/NEJMoa054341
-
Grantham JJ, Torres VE, Chapman AB, et al. Volume progression in polycystic kidney disease. N Engl J Med 2006;354:2122-30. (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
-
12
-
-
33947670753
-
Normal values for renal length and volume as measured by magnetic resonance imaging
-
Cheong B, Muthupillai R, Rubin MF, et al. Normal values for renal length and volume as measured by magnetic resonance imaging. Clin J Am Soc Nephrol 2007;2:38-45.
-
(2007)
Clin J Am Soc Nephrol
, vol.2
, pp. 38-45
-
-
Cheong, B.1
Muthupillai, R.2
Rubin, M.F.3
-
13
-
-
57449115552
-
Congenital hepatic fibrosis in a child with autosomal dominant polycystic kidney disease
-
Kanaheswari Y, Hamzaini AH,Wong SW. Congenital hepatic fibrosis in a child with autosomal dominant polycystic kidney disease. Med J Malaysia 2008;63:251-3.
-
(2008)
Med J Malaysia
, vol.63
, pp. 251-3
-
-
Kanaheswari, Y.1
Hamzaini, A.H.2
Wong, S.W.3
-
14
-
-
0027229294
-
Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease. Report of a family with review of literature
-
Lipschitz B, Berdon WE, Defelice AR, et al. Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease. Report of a family with review of literature. Pediatr Radiol 1993;23:131-3. (Pubitemid 23193964)
-
(1993)
Pediatric Radiology
, vol.23
, Issue.2
, pp. 131-133
-
-
Lipschitz, B.1
Berdon, W.E.2
Defelice, A.R.3
Levy, J.4
-
15
-
-
0025089548
-
Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease
-
Cobben JM, Breuning MH, Schoots C, et al. Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease. Kidney Int 1990;38:880-5. (Pubitemid 20362858)
-
(1990)
Kidney International
, vol.38
, Issue.5
, pp. 880-885
-
-
Cobben, J.M.1
Breuning, M.H.2
Schoots, C.3
Ten Kate, L.P.4
Zerres, K.5
-
16
-
-
0025124886
-
Polycystic kidney of autosomal dominant inheritance, polycystic liver and congenital hepatic fibrosis in a single kindred
-
Matsuda O, Ideura T, Shinoda T, et al. Polycystic kidney of autosomal dominant inheritance, polycystic liver and congenital hepatic fibrosis in a single kindred. Am J Nephrol 1990;10:237-41. (Pubitemid 20305003)
-
(1990)
American Journal of Nephrology
, vol.10
, Issue.3
, pp. 237-241
-
-
Matsuda, O.1
Ideura, T.2
Shinoda, T.3
Shiigai, T.4
Takeuchi, H.5
Wei-Chia, C.6
Miyake, S.7
-
18
-
-
0021804083
-
Congenital hepatic fibrosis and adult-type autosomal dominant polycystic kidney disease in a child
-
Lee FI, Paes AR. Congenital hepatic fibrosis and adult-type autosomal dominant polycystic kidney disease in a child. Postgrad Med J 1985;61:641-2. (Pubitemid 15028791)
-
(1985)
Postgraduate Medical Journal
, vol.61
, Issue.717
, pp. 641-642
-
-
Lee, F.I.1
Paes, A.R.2
-
19
-
-
0021333199
-
Congenital hepatic fibrosis and asymptomatic familial adult-type polycystic kidney disease in a 19-year-old woman
-
Tazelaar HD, Payne JA, Patel NS. Congenital hepatic fibrosis and asymptomatic familial adult-type polycystic kidney disease in a 19- year-old woman. Gastroenterology 1984;86:757-60. (Pubitemid 14164732)
-
(1984)
Gastroenterology
, vol.86
, Issue.4
, pp. 757-760
-
-
Tazelaar, H.D.1
Payne, J.A.2
Patel, N.S.3
-
20
-
-
0030742036
-
Standard splenic volume in children and young adults measured from CT images
-
DOI 10.1007/BF02384985
-
Watanabe Y, Todani T, Noda T, et al. Standard splenic volume in children and young adults measured from CT images. Surg Today 1997;27:726-8. (Pubitemid 27340429)
-
(1997)
Surgery Today
, vol.27
, Issue.8
, pp. 726-728
-
-
Watanabe, Y.1
Todani, T.2
Noda, T.3
Yamamoto, S.4
-
21
-
-
0002996373
-
Body length and organ weights of infants and children: A study of the body length and normal weights of the more important vital organs of the body between birth and twelve years of age
-
Coppoletta JM, Wolbach SB. Body length and organ weights of infants and children: A study of the body length and normal weights of the more important vital organs of the body between birth and twelve years of age. Am J Pathol 1933;9:55-70.
-
(1933)
Am J Pathol
, vol.9
, pp. 55-70
-
-
Coppoletta, J.M.1
Wolbach, S.B.2
-
22
-
-
2942717008
-
Estimation of standard liver volume for liver transplantation in the Korean population
-
DOI 10.1002/lt.20188
-
Yu HC, You H, Lee H, et al. Estimation of standard liver volume for liver transplantation in the Korean population. Liver Transpl 2004;10:779-83. (Pubitemid 38787137)
-
(2004)
Liver Transplantation
, vol.10
, Issue.6
, pp. 779-783
-
-
Yu, H.C.1
You, H.2
Lee, H.3
Jin, Z.-W.4
Moon, J.I.5
Cho, B.H.6
-
23
-
-
0014260929
-
Congenital polycystic disease of kidneys and liver. Portal hypertension: Portacaval anastomosis
-
GaisfordW, Bloor K. Congenital polycystic disease of kidneys and liver. Portal hypertension: Portacaval anastomosis. Proc R Soc Med 1968;61:304.
-
(1968)
Proc R Soc Med
, vol.61
, pp. 304
-
-
Gaisford, W.1
Bloor, K.2
-
24
-
-
0015140605
-
Congenital cystic disease of the liver and biliary system
-
Longmire WP Jr, Mandiola SA, Gordon HE. Congenital cystic disease of the liver and biliary system. Ann Surg 1971;174:711-26.
-
(1971)
Ann Surg
, vol.174
, pp. 711-26
-
-
Longmire Jr., W.P.1
Mandiola, S.A.2
Gordon, H.E.3
-
25
-
-
0014285351
-
Cystic disease of liver and kidney with portal hypertension. A cause of sudden unexpected hematemesis
-
Bradford WD, Bradford JW, Porter FS, et al. Cystic disease of liver and kidney with portal hypertension. A cause of sudden unexpected hematemesis. Clin Pediatr (Phila) 1968;7:299-306.
-
(1968)
Clin Pediatr (Phila)
, vol.7
, pp. 299-306
-
-
Bradford, W.D.1
Bradford, J.W.2
Porter, F.S.3
-
26
-
-
0017405323
-
Congenital hepatic fibrosis, liver cell carcinoma and adult polycystic kidneys
-
Manes JL, Kissane JM, Valdes AJ. Congenital hepatic fibrosis, liver cell carcinoma and adult polycystic kidneys. Cancer 1977;39:2619-23. (Pubitemid 8126944)
-
(1977)
Cancer
, vol.39
, Issue.6
, pp. 2619-2623
-
-
Manes, J.L.1
Kissane, J.M.2
Valdes, A.J.3
-
27
-
-
27744457053
-
Multiple normal deliveries in a woman with severe portal hypertension due to congenital hepatic fibrosis: The importance of preserved hepatocellular function
-
Mindikoglu AL, Regev A, O'Sullivan MJ, et al. Multiple normal deliveries in a woman with severe portal hypertension due to congenital hepatic fibrosis: The importance of preserved hepatocellular function. Am J Gastroenterol 2005;100:2359-61.
-
(2005)
Am J Gastroenterol
, vol.100
, pp. 2359-61
-
-
Mindikoglu, A.L.1
Regev, A.2
O'Sullivan, M.J.3
-
28
-
-
70449672812
-
Liver and kidney disease in ciliopathies
-
Gunay-Aygun M. Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet 2009;151C:296-306.
-
(2009)
Am J Med Genet C Semin Med Genet
, vol.151 C
, pp. 296-306
-
-
Gunay-Aygun, M.1
-
29
-
-
0017803327
-
Congenital hepatic fibrosis: The long-term prognosis
-
Kerr DN, Okonkwo S, Choa RG. Congenital hepatic fibrosis: The longterm prognosis. Gut 1978;19:514-20. (Pubitemid 8363911)
-
(1978)
Gut
, vol.19
, Issue.6
, pp. 514-520
-
-
Kerr, D.N.S.1
Okonkwo, S.2
Choa, R.G.3
-
30
-
-
0014228040
-
Diseases of intrahepatic bile ducts
-
Caroli J. Diseases of intrahepatic bile ducts. Isr J Med Sci 1968;4: 21-35.
-
(1968)
Isr J Med Sci
, vol.4
, pp. 21-35
-
-
Caroli, J.1
-
31
-
-
29244483687
-
The hepatic fibrocystic diseases
-
DOI 10.1016/j.cld.2005.10.003, PII S1089326105000917, Pediatric Hepatology: Progress in Deciphering Mechanisms and Advancing Therapy
-
Kerkar N, Norton K, Suchy FJ. The hepatic fibrocystic diseases. Clin Liver Dis 2006;10:55-71. (Pubitemid 41821377)
-
(2006)
Clinics in Liver Disease
, vol.10
, Issue.1
, pp. 55-71
-
-
Kerkar, N.1
Norton, K.2
Suchy, F.J.3
-
32
-
-
28844484475
-
Polycystic liver and kidney diseases
-
DOI 10.1080/07853890500389181
-
Tahvanainen E, Tahvanainen P, Kaariainen H, et al. Polycystic liver and kidney diseases. Ann Med 2005;37:546-55. (Pubitemid 41780143)
-
(2005)
Annals of Medicine
, vol.37
, Issue.8
, pp. 546-555
-
-
Tahvanainen, E.1
Tahvanainen, P.2
Kaariainen, H.3
Hockerstedt, K.4
-
33
-
-
34250332152
-
Polycystic liver disease: Multimodality imaging for complications and transplant evaluation
-
Morgan DE, Lockhart ME, Canon CL, et al. Polycystic liver disease: Multimodality imaging for complications and transplant evaluation. Radiographics 2006;26:1655-68.
-
(2006)
Radiographics
, vol.26
, pp. 1655-68
-
-
Morgan, D.E.1
Lockhart, M.E.2
Canon, C.L.3
-
34
-
-
0015713679
-
Diseases of the intrahepatic biliary tree
-
Caroli J. Diseases of the intrahepatic biliary tree. Clin Gastroenterol 1973;2:147-61.
-
(1973)
Clin Gastroenterol
, vol.2
, pp. 147-61
-
-
Caroli, J.1
-
35
-
-
0031023801
-
Ascites in a polycystic patient
-
DOI 10.1093/ndt/12.1.228
-
Chauveau D, Grunfeld JP, Durand F, et al. Ascites in a polycystic patient. Nephrol Dial Transplant 1997;12:228-30. (Pubitemid 27046239)
-
(1997)
Nephrology Dialysis Transplantation
, vol.12
, Issue.1
, pp. 228-230
-
-
Chauveau, D.1
Grunfeld, J.P.2
Durand, F.3
Belghiti, J.4
-
36
-
-
0028870397
-
Hepatic venous outflow obstruction in patients with polycystic liver disease: Pathogenesis and treatment
-
Uddin W, Ramage JK, Portmann B, et al. Hepatic venous outflow obstruction in patients with polycystic liver disease: Pathogenesis and treatment. Gut 1995;36:142-5.
-
(1995)
Gut
, vol.36
, pp. 142-5
-
-
Uddin, W.1
Ramage, J.K.2
Portmann, B.3
-
37
-
-
67651101020
-
Cholangiociliopathies: Genetics, molecular mechanisms and potential therapies
-
Masyuk T, Masyuk A, LaRusso N. Cholangiociliopathies: Genetics, molecular mechanisms and potential therapies. Curr Opin Gastroenterol 2009;25:265-71.
-
(2009)
Curr Opin Gastroenterol
, vol.25
, pp. 265-71
-
-
Masyuk, T.1
Masyuk, A.2
LaRusso, N.3
-
38
-
-
33745710680
-
2+ and cAMP Signaling
-
DOI 10.1053/j.gastro.2006.07.003, PII S0016508506014831
-
Masyuk AI, Masyuk TV, Splinter PL, et al. Cholangiocyte cilia detect changes in luminal fluid flow and transmit them into intracellular Ca2+ and cAMP signaling. Gastroenterology 2006;131:911-20. (Pubitemid 44307075)
-
(2006)
Gastroenterology
, vol.131
, Issue.3
, pp. 911-920
-
-
Masyuk, A.I.1
Masyuk, T.V.2
Splinter, P.L.3
Huang, B.Q.4
Stroope, A.J.5
LaRusso, N.F.6
-
39
-
-
34248151938
-
Role of primary cilia in the pathogenesis of polycystic kidney disease
-
DOI 10.1681/ASN.2006111215
-
Yoder BK. Role of primary cilia in the pathogenesis of polycystic kidney disease. J Am Soc Nephrol 2007;18:1381-8. (Pubitemid 46717504)
-
(2007)
Journal of the American Society of Nephrology
, vol.18
, Issue.5
, pp. 1381-1388
-
-
Yoder, B.K.1
-
40
-
-
0031609085
-
Ludwig symposium on biliary disorders: Part I. Pathogenesis of ductal plate abnormalities
-
Desmet VJ. Ludwig symposium on biliary disorders: Part I. Pathogenesis of ductal plate abnormalities. Mayo Clin Proc 1998;73: 80-9.
-
(1998)
Mayo Clin Proc
, vol.73
, pp. 80-9
-
-
Desmet, V.J.1
-
42
-
-
0026636283
-
What is congenital hepatic fibrosis?
-
Desmet VJ. What is congenital hepatic fibrosis? Histopathology 1992;20:465-77.
-
(1992)
Histopathology
, vol.20
, pp. 465-77
-
-
Desmet, V.J.1
|