-
1
-
-
0002250323
-
Autosomal recessive polycystic kidney disease: Clinical and genetic profiles
-
edited by Watson ML, Torres VE, Oxford, Oxford University Press
-
Guay-Woodford LM: Autosomal recessive polycystic kidney disease: Clinical and genetic profiles. In: Polycystic Kidney Disease, edited by Watson ML, Torres VE, Oxford, Oxford University Press, 1996, pp 237-266
-
(1996)
Polycystic Kidney Disease
, pp. 237-266
-
-
Guay-Woodford, L.M.1
-
2
-
-
0001652622
-
Autosomal recessive polycystic kidney disease in 115 children: Clinical presentation, course and influence of gender
-
Zerres K, Rudnik-Schoneborn S, Deget F, Holtkamp U, Brodehl J, Geisert J, Scharer K: Autosomal recessive polycystic kidney disease in 115 children: Clinical presentation, course and influence of gender. Acta Paediatr 85: 437-445, 1996
-
(1996)
Acta Paediatr
, vol.85
, 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
-
3
-
-
0031972263
-
Autosomal recessive polycystic kidney disease
-
Zerres K, Rudnik-Schoneborn S, Steinkamm C, Becker J, Mücher G: Autosomal recessive polycystic kidney disease. J Mol Med 76: 303-309, 1998
-
(1998)
J Mol Med
, vol.76
, pp. 303-309
-
-
Zerres, K.1
Rudnik-Schoneborn, S.2
Steinkamm, C.3
Becker, J.4
Mücher, G.5
-
4
-
-
0023950011
-
Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis
-
Zerres K, Hansmann M, Mallmann R, Gembruch U: Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis. Prenat Diagn Mar 8: 215-229, 1988
-
(1988)
Prenat Diagn Mar
, vol.8
, pp. 215-229
-
-
Zerres, K.1
Hansmann, M.2
Mallmann, R.3
Gembruch, U.4
-
5
-
-
0025311426
-
Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease
-
Reuss A, Wladimiroff JW, Stewart PA, Niermeijer MF: Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease. Ultrasound Med Biol 16: 355-359, 1990
-
(1990)
Ultrasound Med Biol
, vol.16
, pp. 355-359
-
-
Reuss, A.1
Wladimiroff, J.W.2
Stewart, P.A.3
Niermeijer, M.F.4
-
6
-
-
0032485302
-
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology
-
Zerres K, Mücher G, Becker J, Steinkamm C, Rudnik-Schoneborn S, Heikkila P, Rapola J, Salonen R, Germino GG, Onuchic L, Somlo S, Avner ED, Harman LA, Stockwin JM, Guay-Woodford LM: Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology. Am J Med Genet 76: 137-144, 1998
-
(1998)
Am J Med Genet
, vol.76
, pp. 137-144
-
-
Zerres, K.1
Mücher, 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
-
7
-
-
0030957715
-
Autosomal recessive polycystic kidney disease: Long-term outcome of neonatal survivors
-
Roy S, Dillon MJ, Trompeter RS, Barratt TM: Autosomal recessive polycystic kidney disease: Long-term outcome of neonatal survivors. Pediatr Nephrol 11: 302-306, 1997
-
(1997)
Pediatr Nephrol
, vol.11
, pp. 302-306
-
-
Roy, S.1
Dillon, M.J.2
Trompeter, R.S.3
Barratt, T.M.4
-
8
-
-
0028282550
-
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen
-
Zerres K, Mücher G, Bachner L, Deschennes G, Eggermann T, Kaariainen H, Knapp M, Lennert T, Misselwitz J, von Muhlendahl KE: Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet 7: 429-432, 1994
-
(1994)
Nat Genet
, vol.7
, pp. 429-432
-
-
Zerres, K.1
Mücher, G.2
Bachner, L.3
Deschennes, G.4
Eggermann, T.5
Kaariainen, H.6
Knapp, M.7
Lennert, T.8
Misselwitz, J.9
Von Muhlendahl, K.E.10
-
9
-
-
0036509712
-
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
-
Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC: The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 30: 259-269, 2002
-
(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
-
10
-
-
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
-
Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schoneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG: 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, 2002
-
(2002)
Am J Hum Genet
, vol.70
, 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
-
11
-
-
0035171012
-
The pck rat: A new model that resembles human autosomal dominant polycystic kidney and liver disease
-
Lager DJ, Qian Q, Bengal RJ, Ishibashi M, Torres VE: The pck rat: A new model that resembles human autosomal dominant polycystic kidney and liver disease. Kidney Int 59: 126-136, 2001
-
(2001)
Kidney Int
, vol.59
, pp. 126-136
-
-
Lager, D.J.1
Qian, Q.2
Bengal, R.J.3
Ishibashi, M.4
Torres, V.E.5
-
12
-
-
0035023554
-
Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis
-
Sanzen T, Harada K, Yasoshima M, Kawamura Y, Ishibashi M, Nakanuma Y: Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis. Am J Pathol 158: 1605-1612, 2001
-
(2001)
Am J Pathol
, vol.158
, pp. 1605-1612
-
-
Sanzen, T.1
Harada, K.2
Yasoshima, M.3
Kawamura, Y.4
Ishibashi, M.5
Nakanuma, Y.6
-
13
-
-
15444347159
-
Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta
-
Moser M, Pscherer A, Roth C, Becker J, Mücher G, Zerres K, Dixkens C, Weis J, Guay-Woodford L, Buettner R, Fassler R: Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta. Genes Dev 11: 1938-1948, 1997
-
(1997)
Genes Dev
, vol.11
, pp. 1938-1948
-
-
Moser, M.1
Pscherer, A.2
Roth, C.3
Becker, J.4
Mücher, G.5
Zerres, K.6
Dixkens, C.7
Weis, J.8
Guay-Woodford, L.9
Buettner, R.10
Fassler, R.11
-
14
-
-
0032700360
-
Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene
-
Onuchic LF, Mrug M, Lakings AL, Mücher G, Becker J, Zerres K, Avner ED, Dixit M, Somlo S, Germino GG, Guay-Woodford LM: Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene. Mamm Genome 10: 1175-1178, 1999
-
(1999)
Mamm Genome
, vol.10
, pp. 1175-1178
-
-
Onuchic, L.F.1
Mrug, M.2
Lakings, A.L.3
Mücher, G.4
Becker, J.5
Zerres, K.6
Avner, E.D.7
Dixit, M.8
Somlo, S.9
Germino, G.G.10
Guay-Woodford, L.M.11
-
15
-
-
18344413259
-
Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease
-
Hofmann Y, Becker J, Wright F, Avner ED, Mrug M, Guay- Woodford LM, Somlo S, Zerres K, Germino GG, Onuchic LF: Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease. Eur J Hum Genet 8: 163-166, 2000
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 163-166
-
-
Hofmann, Y.1
Becker, J.2
Wright, F.3
Avner, E.D.4
Mrug, M.5
Guay-Woodford, L.M.6
Somlo, S.7
Zerres, K.8
Germino, G.G.9
Onuchic, L.F.10
-
16
-
-
18444378727
-
Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as PKHD 1 candidate gene
-
Onuchic LF, Mrug M, Hou X, Nagasawa Y, Furu L, Eggermann T, Bergmann C, Mücher G, Avner ED, Zerres K, Somlo S, Germino GG, Guay-Woodford LM: Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as PKHD1 candidate gene. Am J Med Genet 110: 346-352, 2002
-
(2002)
Am J Med Genet
, vol.110
, pp. 346-352
-
-
Onuchic, L.F.1
Mrug, M.2
Hou, X.3
Nagasawa, Y.4
Furu, L.5
Eggermann, T.6
Bergmann, C.7
Mücher, G.8
Avner, E.D.9
Zerres, K.10
Somlo, S.11
Germino, G.G.12
Guay-Woodford, L.M.13
-
17
-
-
0036707877
-
Identification and characterization of Pkhd 1, the mouse orthologue of the human ARPKD gene
-
Nagasawa Y, Matthiesen S, Onuchic L, Hou X, Bergmann C, Esquivel E, Senderek J, Ren Z, Zeltner R, Furu L, Avner E, Moser M, Somlo S, Guay-Woodford L, Buettner R, Zerres K, Germino GG: Identification and characterization of Pkhd 1, the mouse orthologue of the human ARPKD gene. J Am Soc Nephrol 13: 2246-2258, 2002
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2246-2258
-
-
Nagasawa, Y.1
Matthiesen, S.2
Onuchic, L.3
Hou, X.4
Bergmann, C.5
Esquivel, E.6
Senderek, J.7
Ren, Z.8
Zeltner, R.9
Furu, L.10
Avner, E.11
Moser, M.12
Somlo, S.13
Guay-Woodford, L.14
Buettner, R.15
Zerres, K.16
Germino, G.G.17
-
18
-
-
0031302088
-
Domain structure of hepatocyte growth factor/scatter factor (HGF/SF)
-
Gherardi E, Hartmann G, Hepple J, Chirgadze D, Srinivasan N, Blundell T: Domain structure of hepatocyte growth factor/scatter factor (HGF/SF). Ciba Found Symp 212: 84-93, 1997
-
(1997)
Ciba Found Symp
, vol.212
, pp. 84-93
-
-
Gherardi, E.1
Hartmann, G.2
Hepple, J.3
Chirgadze, D.4
Srinivasan, N.5
Blundell, T.6
-
19
-
-
0001290687
-
Domains in plexins: Links to integrins and transcription factors
-
Bork P, Doerks T, Springer TA, Snel B: Domains in plexins: Links to integrins and transcription factors. Trends Biochem Sci 24: 261-263, 1999
-
(1999)
Trends Biochem Sci
, vol.24
, pp. 261-263
-
-
Bork, P.1
Doerks, T.2
Springer, T.A.3
Snel, B.4
-
20
-
-
20244364929
-
Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates
-
Tamagnone L, Artigiani S, Chen H, He Z, Ming GI, Song H, Chedotal A, Winberg ML, Goodman CS, Poo M, Tessier-Lavigne M, Comoglio PM: Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates. Cell 99: 71-80, 1999
-
(1999)
Cell
, vol.99
, pp. 71-80
-
-
Tamagnone, L.1
Artigiani, S.2
Chen, H.3
He, Z.4
Ming, G.I.5
Song, H.6
Chedotal, A.7
Winberg, M.L.8
Goodman, C.S.9
Poo, M.10
Tessier-Lavigne, M.11
Comoglio, P.M.12
-
21
-
-
0036107627
-
Predicting the Beta-helix fold from protein sequence data
-
Cowen L, Bradley P, Menke M, King J, Berger B: Predicting the Beta-helix fold from protein sequence data. J Comput Biol 9: 261-276, 2002
-
(2002)
J Comput Biol
, vol.9
, pp. 261-276
-
-
Cowen, L.1
Bradley, P.2
Menke, M.3
King, J.4
Berger, B.5
-
22
-
-
0028931119
-
Autosomal recessive polycystic kidney disease: Long- term sonographic findings in patients surviving the neonatal period
-
Blickman JG, Bramson RT, Herrin JT: Autosomal recessive polycystic kidney disease: Long- term sonographic findings in patients surviving the neonatal period. Am J Roentgenol 164: 1247-1250, 1995
-
(1995)
Am J Roentgenol
, vol.164
, pp. 1247-1250
-
-
Blickman, J.G.1
Bramson, R.T.2
Herrin, J.T.3
-
23
-
-
0012300378
-
Sonography of renal cystic disease and dysplasia in infants and children
-
edited by Brodehl J, Ehrich JHH, Berlin, Springer
-
Garel L: Sonography of renal cystic disease and dysplasia in infants and children. In: Pediatric Nephrology, edited by Brodehl J, Ehrich JHH, Berlin, Springer, 1998, pp 359-362
-
(1998)
Pediatric Nephrology
, pp. 359-362
-
-
Garel, L.1
-
24
-
-
0345215151
-
Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT RDS, CSNK2 beta, and GSTA1 at 6p21.1-p 12
-
Mücher G, Becker J, Knapp M, Buttner R, Moser M, Rudnik-Schoneborn S, Somlo S, Germino G, Onuchic L, Avner E, Guay-Woodford L, Zerres K: Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12. Genomics 48: 40-45, 1998
-
(1998)
Genomics
, vol.48
, pp. 40-45
-
-
Mücher, G.1
Becker, J.2
Knapp, M.3
Buttner, R.4
Moser, M.5
Rudnik-Schoneborn, S.6
Somlo, S.7
Germino, G.8
Onuchic, L.9
Avner, E.10
Guay-Woodford, L.11
Zerres, K.12
-
25
-
-
19244363372
-
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome
-
Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, Deschenes G, Grunfeld JP, Broyer M, Gubler MC, Antignac C: Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Am J Hum Genet 59: 1221-1232, 1996
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1221-1232
-
-
Knebelmann, B.1
Breillat, C.2
Forestier, L.3
Arrondel, C.4
Jacassier, D.5
Giatras, I.6
Drouot, L.7
Deschenes, G.8
Grunfeld, J.P.9
Broyer, M.10
Gubler, M.C.11
Antignac, C.12
-
26
-
-
0030954731
-
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations
-
Hayward C, Porteous ME, Brock DJ: Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations. Hum Mutat 10: 280-289, 1997
-
(1997)
Hum Mutat
, vol.10
, pp. 280-289
-
-
Hayward, C.1
Porteous, M.E.2
Brock, D.J.3
-
28
-
-
0028906290
-
The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: Implications for genetic counseling
-
Guay-Woodford LM, Mücher G, Hopkins SD, Avner ED, Germino GG, Guillot AP, Herrin J, Holleman R, Irons DA, Primack W, Thomson PD, Waldo FB, Lunt PW, Zerres K: 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, 1995
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1101-1107
-
-
Guay-Woodford, L.M.1
Mücher, 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
Thomson, P.D.11
Waldo, F.B.12
Lunt, P.W.13
Zerres, K.14
-
29
-
-
0342680007
-
Analysis of chromosome 6p in Spanish families with recessive polycystic kidney disease
-
Alvarez V, Malaga S, Navarro M, Espinosa L, Hidalgo E, Badia J, Alvarez R, Coto E: Analysis of chromosome 6p in Spanish families with recessive polycystic kidney disease. Pediatr Nephrol 14: 205-207, 2000
-
(2000)
Pediatr Nephrol
, vol.14
, pp. 205-207
-
-
Alvarez, V.1
Malaga, S.2
Navarro, M.3
Espinosa, L.4
Hidalgo, E.5
Badia, J.6
Alvarez, R.7
Coto, E.8
-
30
-
-
0029058140
-
Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: A clinical comparison of 20 sibships
-
Deget F, Rudnik-Schoneborn S, Zerres K: Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: A clinical comparison of 20 sibships. Clin Genet 47: 248-253, 1995
-
(1995)
Clin Genet
, vol.47
, pp. 248-253
-
-
Deget, F.1
Rudnik-Schoneborn, S.2
Zerres, K.3
-
31
-
-
0034130222
-
Quantitative trait loci modulate renal cystic disease severity in the mouse bpk model
-
Guay-Woodford LM, Wright CJ, Walz G, Churchill GA: Quantitative trait loci modulate renal cystic disease severity in the mouse bpk model. J Am Soc Nephrol 11: 1253-1260, 2000
-
(2000)
J Am Soc Nephrol
, vol.11
, pp. 1253-1260
-
-
Guay-Woodford, L.M.1
Wright, C.J.2
Walz, G.3
Churchill, G.A.4
-
32
-
-
0346740257
-
Phenotypic variations of orpk mutation and chromosomal localization of modifiers influencing kidney phenotype
-
Sommardahl C, Cottrell M, Wilkinson JE, Woychik RP, Johnson DK: Phenotypic variations of orpk mutation and chromosomal localization of modifiers influencing kidney phenotype. Physiol Genomics 7: 127-134, 2001
-
(2001)
Physiol Genomics
, vol.7
, pp. 127-134
-
-
Sommardahl, C.1
Cottrell, M.2
Wilkinson, J.E.3
Woychik, R.P.4
Johnson, D.K.5
-
33
-
-
0036534129
-
Alternative splicing: Multiple control mechanisms and involvement in human disease
-
Caceres JF, Kornblihtt AR: Alternative splicing: Multiple control mechanisms and involvement in human disease. Trends Genet 18: 186-193, 2002
-
(2002)
Trends Genet
, vol.18
, pp. 186-193
-
-
Caceres, J.F.1
Kornblihtt, A.R.2
-
34
-
-
0036337915
-
A genomic view of alternative splicing
-
Modrek B, Lee C: A genomic view of alternative splicing. Nat Genet 30: 13-19, 2002
-
(2002)
Nat Genet
, vol.30
, pp. 13-19
-
-
Modrek, B.1
Lee, C.2
-
35
-
-
0033946057
-
Abdominal sonographic study of autosomal dominant polycystic kidney disease
-
Nicolau C, Torra R, Bianchi L, Vilana R, Gilabert R, Darnell A, Bru C: Abdominal sonographic study of autosomal dominant polycystic kidney disease. J Clin Ultrasound 28: 277-282, 2000
-
(2000)
J Clin Ultrasound
, vol.28
, pp. 277-282
-
-
Nicolau, C.1
Torra, R.2
Bianchi, L.3
Vilana, R.4
Gilabert, R.5
Darnell, A.6
Bru, C.7
|