-
1
-
-
77049339267
-
Die familiäre juvenile nephronophthise
-
Fanconi G, Hanhart E, von Albertini A, Uhlinger E, Dolivo G, Prader A. Die familiäre juvenile nephronophthise. Helv Paediatr Acta. 1951;6:1-49.
-
(1951)
Helv Paediatr Acta
, vol.6
, pp. 1-49
-
-
Fanconi, G.1
Hanhart, E.2
von Albertini, A.3
Uhlinger, E.4
Dolivo, G.5
Prader, A.6
-
2
-
-
0001660623
-
Congenital medullary cysts of kidneys with severe refractory anemia
-
Smith C, Graham J. Congenital medullary cysts of kidneys with severe refractory anemia. Am J Dis Child. 1945;69:369-77.
-
(1945)
Am J Dis Child
, vol.69
, pp. 369-377
-
-
Smith, C.1
Graham, J.2
-
3
-
-
0020062324
-
The nephronophthisis complex. A clinicopathologic study in children
-
Waldherr R, Lennert T, Weber HP, Fodisch HJ, Scharer K. The nephronophthisis complex. A clinicopathologic study in children. Virchows Arch [Pathol Anat]. 1982;394:235-54.
-
(1982)
Virchows Arch [Pathol Anat]
, vol.394
, pp. 235-254
-
-
Waldherr, R.1
Lennert, T.2
Weber, H.P.3
Fodisch, H.J.4
Scharer, K.5
-
4
-
-
0019186988
-
Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings
-
Zollinger HU, Mihatsch MJ, Edefonti A, Gaboardi F, Imbasciati E, Lennert T. Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings. Helv Paediatr Acta. 1980;35:509-30.
-
(1980)
Helv Paediatr Acta
, vol.35
, pp. 509-530
-
-
Zollinger, H.U.1
Mihatsch, M.J.2
Edefonti, A.3
Gaboardi, F.4
Imbasciati, E.5
Lennert, T.6
-
5
-
-
0030031566
-
Ultrasound findings in juvenile nephronophthisis
-
Blowey DL, Querfeld U, Geary D, Warady BA, Alon U. Ultrasound findings in juvenile nephronophthisis. Pediatr Nephrol. 1996;10:22-4.
-
(1996)
Pediatr Nephrol
, vol.10
, pp. 22-24
-
-
Blowey, D.L.1
Querfeld, U.2
Geary, D.3
Warady, B.A.4
Alon, U.5
-
6
-
-
0031055335
-
Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft fuer Paediatrische Nephrologie
-
Hildebrandt F, Strahm B, Nothwang HG, Gretz N, Schnieders B, Singh-Sawhney I, Kutt R, Vollmer M, Brandis M. Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft fuer Paediatrische Nephrologie. Kidney Int. 1997;51:261-9.
-
(1997)
Kidney Int
, vol.51
, pp. 261-269
-
-
Hildebrandt, F.1
Strahm, B.2
Nothwang, H.G.3
Gretz, N.4
Schnieders, B.5
Singh-Sawhney, I.6
Kutt, R.7
Vollmer, M.8
Brandis, M.9
-
7
-
-
0041592700
-
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
-
Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet. 2003;34:413-20.
-
(2003)
Nat Genet
, vol.34
, pp. 413-420
-
-
Otto, E.A.1
Schermer, B.2
Obara, T.3
O'Toole, J.F.4
Hiller, K.S.5
Mueller, A.M.6
Ruf, R.G.7
Hoefele, J.8
Beekmann, F.9
Landau, D.10
Foreman, J.W.11
Goodship, J.A.12
Strachan, T.13
Kispert, A.14
Wolf, M.T.15
Gagnadoux, M.F.16
Nivet, H.17
Antignac, C.18
Walz, G.19
Drummond, I.A.20
Benzing, T.21
Hildebrandt, F.22
more..
-
8
-
-
0032231645
-
A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping
-
Haider NB, Carmi R, Shalev H, Sheffield VC, Landau D. A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. Am J Hum Genet. 1998;63:1404-10.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1404-1410
-
-
Haider, N.B.1
Carmi, R.2
Shalev, H.3
Sheffield, V.C.4
Landau, D.5
-
10
-
-
0024535334
-
Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity ?
-
Gagnadoux MF, Bacri JL, Broyer M, Habib R. Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity ? Pediatr Nephrol. 1989;3:50-5.
-
(1989)
Pediatr Nephrol
, vol.3
, pp. 50-55
-
-
Gagnadoux, M.F.1
Bacri, J.L.2
Broyer, M.3
Habib, R.4
-
12
-
-
20944435539
-
Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways
-
Simons M, Gloy J, Ganner A, Bullerkotte A, Bashkurov M, Kronig C, Schermer B, Benzing T, Cabello OA, Jenny A, Mlodzik M, Polok B, Driever W, Obara T, Walz G. Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. Nat Genet. 2005;37:537-43.
-
(2005)
Nat Genet
, vol.37
, pp. 537-543
-
-
Simons, M.1
Gloy, J.2
Ganner, A.3
Bullerkotte, A.4
Bashkurov, M.5
Kronig, C.6
Schermer, B.7
Benzing, T.8
Cabello, O.A.9
Jenny, A.10
Mlodzik, M.11
Polok, B.12
Driever, W.13
Obara, T.14
Walz, G.15
-
13
-
-
0027402309
-
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p
-
Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M, Weissenbach J, Habib R, Cohen D. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nat Genet. 1993;3:342-5.
-
(1993)
Nat Genet
, vol.3
, pp. 342-345
-
-
Antignac, C.1
Arduy, C.H.2
Beckmann, J.S.3
Benessy, F.4
Gros, F.5
Medhioub, M.6
Hildebrandt, F.7
Dufier, J.L.8
Kleinknecht, C.9
Broyer, M.10
Weissenbach, J.11
Habib, R.12
Cohen, D.13
-
14
-
-
0027362256
-
Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group
-
Hildebrandt F, Singh-Sawhney I, Schnieders B, Centofante L, Omran H, Pohlmann A, Schmaltz C, Wedekind H, Schubotz C, Antignac C. Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group. Am J Hum Genet. 1993;53:1256-61.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1256-1261
-
-
Hildebrandt, F.1
Singh-Sawhney, I.2
Schnieders, B.3
Centofante, L.4
Omran, H.5
Pohlmann, A.6
Schmaltz, C.7
Wedekind, H.8
Schubotz, C.9
Antignac, C.10
-
15
-
-
0030868540
-
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1
-
Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet. 1997;17:149-53.
-
(1997)
Nat Genet
, vol.17
, pp. 149-153
-
-
Hildebrandt, F.1
Otto, E.2
Rensing, C.3
Nothwang, H.G.4
Vollmer, M.5
Adolphs, J.6
Hanusch, H.7
Brandis, M.8
-
16
-
-
9844224478
-
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis
-
Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J, Antignac C. A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum Mol Genet. 1997;6:2317-23.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2317-2323
-
-
Saunier, S.1
Calado, J.2
Heilig, R.3
Silbermann, F.4
Benessy, F.5
Morin, G.6
Konrad, M.7
Broyer, M.8
Gubler, M.C.9
Weissenbach, J.10
Antignac, C.11
-
17
-
-
0035132558
-
Arbeitsgemeinschaft fuer Paediatrische Nephrologie (APN) Study Group: establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis
-
Hildebrandt F, Rensing C, Betz R, Sommer U, Birnbaum S, Imm A, Omran H, Leipoldt M, Otto E. Arbeitsgemeinschaft fuer Paediatrische Nephrologie (APN) Study Group: establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. Kidney Int. 2001;59(2):434-45.
-
(2001)
Kidney Int
, vol.59
, Issue.2
, pp. 434-445
-
-
Hildebrandt, F.1
Rensing, C.2
Betz, R.3
Sommer, U.4
Birnbaum, S.5
Imm, A.6
Omran, H.7
Leipoldt, M.8
Otto, E.9
-
18
-
-
21144437858
-
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
-
Hoefele J, Sudbrak R, Reinhardt R, Lehrack S, Hennig S, Imm A, Muerb U, Utsch B, Attanasio M, O'Toole JF, Otto E, Hildebrandt F. Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. Hum Mutat. 2005;25(4):411.
-
(2005)
Hum Mutat
, vol.25
, Issue.4
, pp. 411
-
-
Hoefele, J.1
Sudbrak, R.2
Reinhardt, R.3
Lehrack, S.4
Hennig, S.5
Imm, A.6
Muerb, U.7
Utsch, B.8
Attanasio, M.9
O'Toole, J.F.10
Otto, E.11
Hildebrandt, F.12
-
19
-
-
9044227270
-
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
-
Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C. Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet. 1996;5:367-71.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 367-371
-
-
Konrad, M.1
Saunier, S.2
Heidet, L.3
Silbermann, F.4
Benessy, F.5
Calado, J.6
Le Paslier, D.7
Broyer, M.8
Gubler, M.C.9
Antignac, C.10
-
20
-
-
0034630157
-
Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells
-
Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK. Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells. Exp Cell Res. 2000;256:168-78.
-
(2000)
Exp Cell Res
, vol.256
, pp. 168-178
-
-
Donaldson, J.C.1
Dempsey, P.J.2
Reddy, S.3
Bouton, A.H.4
Coffey, R.J.5
Hanks, S.K.6
-
21
-
-
0035859888
-
Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2
-
Benzing T, Gerke P, Hopker K, Hildebrandt F, Kim E, Walz G. Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2. Proc Natl Acad Sci U S A. 2001;98(17):9784-9.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, Issue.17
, pp. 9784-9789
-
-
Benzing, T.1
Gerke, P.2
Hopker, K.3
Hildebrandt, F.4
Kim, E.5
Walz, G.6
-
22
-
-
18644368159
-
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
-
Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet. 2002;32:300-5.
-
(2002)
Nat Genet
, vol.32
, pp. 300-305
-
-
Mollet, G.1
Salomon, R.2
Gribouval, O.3
Silbermann, F.4
Bacq, D.5
Landthaler, G.6
Milford, D.7
Nayir, A.8
Rizzoni, G.9
Antignac, C.10
Saunier, S.11
-
23
-
-
0042093746
-
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
-
Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet. 2003;34:455-9.
-
(2003)
Nat Genet
, vol.34
, pp. 455-459
-
-
Olbrich, H.1
Fliegauf, M.2
Hoefele, J.3
Kispert, A.4
Otto, E.5
Volz, A.6
Wolf, M.T.7
Sasmaz, G.8
Trauer, U.9
Reinhardt, R.10
Sudbrak, R.11
Antignac, C.12
Gretz, N.13
Walz, G.14
Schermer, B.15
Benzing, T.16
Hildebrandt, F.17
Omran, H.18
-
24
-
-
14644403727
-
Characterization of the nephrocystin/ nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes
-
Mollet G, Silbermann F, Delous M, Salomon R, Antignac C, Saunier S. Characterization of the nephrocystin/ nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Hum Mol Genet. 2005;14:645-56.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 645-656
-
-
Mollet, G.1
Silbermann, F.2
Delous, M.3
Salomon, R.4
Antignac, C.5
Saunier, S.6
-
25
-
-
29244472858
-
Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia
-
Schermer B, Hopker K, Omran H, Ghenoiu C, Fliegauf M, Fekete A, Horvath J, Kottgen M, Hackl M, Zschiedrich S, Huber TB, Kramer-Zucker A, Zentgraf H, Blaukat A, Walz G, Benzing T. Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. EMBO J. 2005;24:4415-24.
-
(2005)
EMBO J
, vol.24
, pp. 4415-4424
-
-
Schermer, B.1
Hopker, K.2
Omran, H.3
Ghenoiu, C.4
Fliegauf, M.5
Fekete, A.6
Horvath, J.7
Kottgen, M.8
Hackl, M.9
Zschiedrich, S.10
Huber, T.B.11
Kramer-Zucker, A.12
Zentgraf, H.13
Blaukat, A.14
Walz, G.15
Benzing, T.16
-
26
-
-
33748056457
-
Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and is absent in nephronophthisis patients with NPHP1 deletions
-
Fliegauf M, Horvath J, von Schnakenburg C, Müller D, Thumfart J, Schermer B, Pazour GJ, Neumann HPH, Zentgraf H, Benzing T, Omran H. Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and is absent in nephronophthisis patients with NPHP1 deletions. J Am Soc Nephrol. 2006;17:2424-33.
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 2424-2433
-
-
Fliegauf, M.1
Horvath, J.2
von Schnakenburg, C.3
Müller, D.4
Thumfart, J.5
Schermer, B.6
Pazour, G.J.7
Neumann, H.P.H.8
Zentgraf, H.9
Benzing, T.10
Omran, H.11
-
27
-
-
33750128225
-
Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults
-
Bollee G, Fakhouri F, Karras A, Noel LH, Salomon R, Servais A, Lesavre P, Moriniere V, Antignac C, Hummel A. Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults. Nephrol Dial Transplant. 2006;21(9):2660-3.
-
(2006)
Nephrol Dial Transplant
, vol.21
, Issue.9
, pp. 2660-2663
-
-
Bollee, G.1
Fakhouri, F.2
Karras, A.3
Noel, L.H.4
Salomon, R.5
Servais, A.6
Lesavre, P.7
Moriniere, V.8
Antignac, C.9
Hummel, A.10
-
28
-
-
0034089698
-
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis
-
Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F. Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr. 2000;136:828-31.
-
(2000)
J Pediatr
, vol.136
, pp. 828-831
-
-
Betz, R.1
Rensing, C.2
Otto, E.3
Mincheva, A.4
Zehnder, D.5
Lichter, P.6
Hildebrandt, F.7
-
29
-
-
3042637388
-
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
-
Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DWW, McDonald R, Eddy A, Chance PF, Glass IA. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004;75:82-91.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 82-91
-
-
Parisi, M.A.1
Bennett, C.L.2
Eckert, M.L.3
Dobyns, W.B.4
Gleeson, J.G.5
Shaw, D.W.W.6
McDonald, R.7
Eddy, A.8
Chance, P.F.9
Glass, I.A.10
-
30
-
-
0036842902
-
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution
-
Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhager R, Sudbrak R, Hennies HC, Nurnberg P, Hildebrandt F. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet. 2002;71:1161-7.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1161-1167
-
-
Otto, E.1
Hoefele, J.2
Ruf, R.3
Mueller, A.M.4
Hiller, K.S.5
Wolf, M.T.6
Schuermann, M.J.7
Becker, A.8
Birkenhager, R.9
Sudbrak, R.10
Hennies, H.C.11
Nurnberg, P.12
Hildebrandt, F.13
-
31
-
-
0033941201
-
Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venzuelan pedigree
-
Omran H, Fernandez C, Jung M, Häffner K, Fargier B, Waldherr R, Gretz N, Brandis M, Rüschendorf F, Reis A, Hildebrandt F. Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venzuelan pedigree. Am J Hum Genet. 2000;66:118-27.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 118-127
-
-
Omran, H.1
Fernandez, C.2
Jung, M.3
Häffner, K.4
Fargier, B.5
Waldherr, R.6
Gretz, N.7
Brandis, M.8
Rüschendorf, F.9
Reis, A.10
Hildebrandt, F.11
-
32
-
-
0035168306
-
Human adolescent nephronophthisis:gene locus synteny with polycystic kidney disease in pcy mice
-
Omran H, Häffner K, Burth S, Fernandez C, Fargier B, Villaquiran A, Nothwang HG, Schnittger S, Lehrach H, Woo D, Brandis M, Sudbrak R, Hildebrandt F. Human adolescent nephronophthisis:gene locus synteny with polycystic kidney disease in pcy mice. J Am Soc Nephrol. 2001;12:107-13.
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 107-113
-
-
Omran, H.1
Häffner, K.2
Burth, S.3
Fernandez, C.4
Fargier, B.5
Villaquiran, A.6
Nothwang, H.G.7
Schnittger, S.8
Lehrach, H.9
Woo, D.10
Brandis, M.11
Sudbrak, R.12
Hildebrandt, F.13
-
33
-
-
0036137795
-
Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene
-
Omran H, Sasmaz G, Häffner K, Volz A, Olbrich H, Otto E, Wienker TF, Korinthenberg R, Brandis M, Antignac C, Hildebrandt F. Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. J Am Soc Nephrol. 2002;13:75-9.
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 75-79
-
-
Omran, H.1
Sasmaz, G.2
Häffner, K.3
Volz, A.4
Olbrich, H.5
Otto, E.6
Wienker, T.F.7
Korinthenberg, R.8
Brandis, M.9
Antignac, C.10
Hildebrandt, F.11
-
34
-
-
0035140597
-
New insights:nephronophthisis-medullary cystic kidney disease
-
Hildebrandt F, Omran H. New insights:nephronophthisis-medullary cystic kidney disease. Pediatr Nephrol. 2001;16:168-76.
-
(2001)
Pediatr Nephrol
, vol.16
, pp. 168-176
-
-
Hildebrandt, F.1
Omran, H.2
-
36
-
-
0000784877
-
Juvenile familial nephropathy with tapetoretinal degeneration: a new oculo-renal dystrophy
-
Senior B, Friedmann AI, Braudo JL. Juvenile familial nephropathy with tapetoretinal degeneration: a new oculo-renal dystrophy. Am J Opthalmol. 1961;52:625-33.
-
(1961)
Am J Opthalmol
, vol.52
, pp. 625-633
-
-
Senior, B.1
Friedmann, A.I.2
Braudo, J.L.3
-
38
-
-
0000840396
-
Über anormale Formen der Retinitis pigmentosa
-
Leber T. Über anormale Formen der Retinitis pigmentosa. Arch Ophthalmol. 1871;17:314-41.
-
(1871)
Arch Ophthalmol
, vol.17
, pp. 314-341
-
-
Leber, T.1
-
39
-
-
0014373715
-
Leber's congenital tapeto-retinal degeneration
-
François J. Leber's congenital tapeto-retinal degeneration. Int Ophthalmol Clin. 1968;8:929-47.
-
(1968)
Int Ophthalmol Clin
, vol.8
, pp. 929-947
-
-
François, J.1
-
40
-
-
84940140093
-
L'importance diagnostique de l'éléctrorétinogramme dans le dégénérescences tapéto-rétinennes avec rétrécissement du champ visuel et héméralopie
-
Franceschetti A, Dieterle P. L'importance diagnostique de l'éléctrorétinogramme dans le dégénérescences tapéto-rétinennes avec rétrécissement du champ visuel et héméralopie. Conf Neurol. 1954;14:184-6.
-
(1954)
Conf Neurol
, vol.14
, pp. 184-186
-
-
Franceschetti, A.1
Dieterle, P.2
-
41
-
-
79960937678
-
The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders
-
Sattar S, Gleeson JG. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev Med Child Neurol. 2011;53(9):793-8.
-
(2011)
Dev Med Child Neurol
, vol.53
, Issue.9
, pp. 793-798
-
-
Sattar, S.1
Gleeson, J.G.2
-
42
-
-
20144375842
-
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Løken syndrome and interacts with RPGR and calmodulin
-
Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Løken syndrome and interacts with RPGR and calmodulin. Nat Genet. 2005;37:282-8.
-
(2005)
Nat Genet
, vol.37
, pp. 282-288
-
-
Otto, E.A.1
Loeys, B.2
Khanna, H.3
Hellemans, J.4
Sudbrak, R.5
Fan, S.6
Muerb, U.7
O'Toole, J.F.8
Helou, J.9
Attanasio, M.10
Utsch, B.11
Sayer, J.A.12
Lillo, C.13
Jimeno, D.14
Coucke, P.15
De Paepe, A.16
Reinhardt, R.17
Klages, S.18
Tsuda, M.19
Kawakami, I.20
Kusakabe, T.21
Omran, H.22
Imm, A.23
Tippens, M.24
Raymond, P.A.25
Hill, J.26
Beales, P.27
He, S.28
Kispert, A.29
Margolis, B.30
Williams, D.S.31
Swaroop, A.32
Hildebrandt, F.33
more..
-
43
-
-
0032989288
-
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance
-
Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten JC, Dede DE, Fennell E. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol. 1999;14:368-76.
-
(1999)
J Child Neurol
, vol.14
, pp. 368-376
-
-
Maria, B.L.1
Quisling, R.G.2
Rosainz, L.C.3
Yachnis, A.T.4
Gitten, J.C.5
Dede, D.E.6
Fennell, E.7
-
44
-
-
29944439508
-
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
-
Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol. 2006;21:32-5.
-
(2006)
Pediatr Nephrol
, vol.21
, pp. 32-35
-
-
Utsch, B.1
Sayer, J.A.2
Attanasio, M.3
Pereira, R.R.4
Eccles, M.5
Hennies, H.C.6
Otto, E.A.7
Hildebrandt, F.8
-
45
-
-
33645774086
-
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
-
Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet. 2006;43:334-9.
-
(2006)
J Med Genet
, vol.43
, pp. 334-339
-
-
Parisi, M.A.1
Doherty, D.2
Eckert, M.L.3
Shaw, D.W.4
Ozyurek, H.5
Aysun, S.6
Giray, O.7
Al Swaid, A.8
Al Shahwan, S.9
Dohayan, N.10
Bakhsh, E.11
Indridason, O.S.12
Dobyns, W.B.13
Bennett, C.L.14
Chance, P.F.15
Glass, I.A.16
-
46
-
-
33745230448
-
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
-
Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006;38:674-81.
-
(2006)
Nat Genet
, vol.38
, pp. 674-681
-
-
Sayer, J.A.1
Otto, E.A.2
O'Toole, J.F.3
Nurnberg, G.4
Kennedy, M.A.5
Becker, C.6
Hennies, H.C.7
Helou, J.8
Attanasio, M.9
Fausett, B.V.10
Utsch, B.11
Khanna, H.12
Liu, Y.13
Drummond, I.14
Kawakami, I.15
Kusakabe, T.16
Tsuda, M.17
Ma, L.18
Lee, H.19
Larson, R.G.20
Allen, S.J.21
Wilkinson, C.J.22
Nigg, E.A.23
Shou, C.24
Lillo, C.25
Williams, D.S.26
Hoppe, B.27
Kemper, M.J.28
Neuhaus, T.29
Parisi, M.A.30
Glass, I.A.31
Petry, M.32
Kispert, A.33
Gloy, J.34
Ganner, A.35
Walz, G.36
Zhu, X.37
Goldman, D.38
Nurnberg, P.39
Swaroop, A.40
Leroux, M.R.41
Hildebrandt, F.42
more..
-
47
-
-
33745225873
-
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
-
Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E, International Joubert Syndrome Related Disorders Study Group, Bertini E, Dallapiccola B, Gleeson JG. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006;38:623-5.
-
(2006)
Nat Genet
, vol.38
, pp. 623-625
-
-
Valente, E.M.1
Silhavy, J.L.2
Brancati, F.3
Barrano, G.4
Krishnaswami, S.R.5
Castori, M.6
Lancaster, M.A.7
Boltshauser, E.8
Boccone, L.9
Al-Gazali, L.10
Fazzi, E.11
Signorini, S.12
Louie, C.M.13
Bellacchio, E.14
Dallapiccola, B.15
Gleeson, J.G.16
-
48
-
-
84865957680
-
Educational paper: ciliopathies
-
Bergmann C. Educational paper: ciliopathies. Eur J Pediatr. 2012;171(9):1285-300.
-
(2012)
Eur J Pediatr
, vol.171
, Issue.9
, pp. 1285-1300
-
-
Bergmann, C.1
-
49
-
-
74549148162
-
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
-
Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet. 2010;47(1):8-21.
-
(2010)
J Med Genet
, vol.47
, Issue.1
, pp. 8-21
-
-
Doherty, D.1
Parisi, M.A.2
Finn, L.S.3
Gunay-Aygun, M.4
Al-Mateen, M.5
Bates, D.6
Clericuzio, C.7
Demir, H.8
Dorschner, M.9
van Essen, A.J.10
Gahl, W.A.11
Gentile, M.12
Gorden, N.T.13
Hikida, A.14
Knutzen, D.15
Ozyurek, H.16
Phelps, I.17
Rosenthal, P.18
Verloes, A.19
Weigand, H.20
Chance, P.F.21
Dobyns, W.B.22
Glass, I.A.23
more..
-
50
-
-
33746706805
-
Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis
-
Alexiev BA, Lin X, Sun CC, Brenner DS. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med. 2006;130(8):1236-8.
-
(2006)
Arch Pathol Lab Med
, vol.130
, Issue.8
, pp. 1236-1238
-
-
Alexiev, B.A.1
Lin, X.2
Sun, C.C.3
Brenner, D.S.4
-
51
-
-
0015253913
-
Heredity of congenital ocular motor apraxia
-
Cogan DG. Heredity of congenital ocular motor apraxia. Trans Am Acad Ophthal Otolaryngol. 1972;76:60-3.
-
(1972)
Trans Am Acad Ophthal Otolaryngol
, vol.76
, pp. 60-63
-
-
Cogan, D.G.1
-
52
-
-
0035877183
-
Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome
-
Hedera P, Gorski JL. Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome. Am J Med Genet. 2001;101:142-5.
-
(2001)
Am J Med Genet
, vol.101
, pp. 142-145
-
-
Hedera, P.1
Gorski, J.L.2
-
53
-
-
0014865926
-
Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities
-
Mainzer F, Saldino RM, Ozonoff MB, Minagi H. Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med. 1970;49:556-62.
-
(1970)
Am J Med
, vol.49
, pp. 556-562
-
-
Mainzer, F.1
Saldino, R.M.2
Ozonoff, M.B.3
Minagi, H.4
-
54
-
-
0018395163
-
Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease: the conorenal syndromes
-
Giedion A. Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease: the conorenal syndromes. Pediatr Radiol. 1979;8:32-8.
-
(1979)
Pediatr Radiol
, vol.8
, pp. 32-38
-
-
Giedion, A.1
-
55
-
-
0017089215
-
Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities
-
Popovic-Rolovic M, Calic-Perisic N, Bunjevacki G, Negovanovic D. Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. Arch Dis Child. 1976;51:801-3.
-
(1976)
Arch Dis Child
, vol.51
, pp. 801-803
-
-
Popovic-Rolovic, M.1
Calic-Perisic, N.2
Bunjevacki, G.3
Negovanovic, D.4
-
56
-
-
0017168601
-
Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis
-
Robins DG, French TA, Chakera TM. Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis. Arch Dis Child. 1976;51:799-801.
-
(1976)
Arch Dis Child
, vol.51
, pp. 799-801
-
-
Robins, D.G.1
French, T.A.2
Chakera, T.M.3
-
57
-
-
0015535125
-
Congenital hepatic fibrosis and nephronophthisis: a family study
-
Boichis H, Passwell J, David R, Miller H. Congenital hepatic fibrosis and nephronophthisis: a family study. Q J Med. 1973;42:221-33.
-
(1973)
Q J Med
, vol.42
, pp. 221-233
-
-
Boichis, H.1
Passwell, J.2
David, R.3
Miller, H.4
-
58
-
-
0016787765
-
Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis
-
Proesmans W, Van Damme B, Macken J. Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis. Clin Nephrol. 1975;3:160-4.
-
(1975)
Clin Nephrol
, vol.3
, pp. 160-164
-
-
Proesmans, W.1
Van Damme, B.2
Macken, J.3
-
59
-
-
0018084847
-
Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins
-
66:558-63
-
Delaney V, Mullaney J, Bourke E. Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins. Q J Med. 1978;186:281-96. 66:558-63.
-
(1978)
Q J Med
, vol.186
, pp. 281-296
-
-
Delaney, V.1
Mullaney, J.2
Bourke, E.3
-
60
-
-
0027213836
-
Glomerulocystic kidney disease - nosological considerations
-
Bernstein J. Glomerulocystic kidney disease - nosological considerations. Pediatr Nephrol. 1993;7:464-70.
-
(1993)
Pediatr Nephrol
, vol.7
, pp. 464-470
-
-
Bernstein, J.1
-
62
-
-
41549092173
-
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber- like- syndrome, situs inversus and renal-hepatic-pancreatic dysplasia
-
Bergmann C, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, Nürnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nürnberg P, Gretz N, Lo C, Lienkamp S, Schäfer T, Walz G, Benzing T, Zerres K, Omran H. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber- like- syndrome, situs inversus and renal-hepatic-pancreatic dysplasia. Am J Hum Genet. 2008;82:959-70.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 959-970
-
-
Bergmann, C.1
Fliegauf, M.2
Brüchle, N.O.3
Frank, V.4
Olbrich, H.5
Kirschner, J.6
Schermer, B.7
Schmedding, I.8
Kispert, A.9
Kränzlin, B.10
Nürnberg, G.11
Becker, C.12
Grimm, T.13
Girschick, G.14
Lynch, S.A.15
Kelehan, P.16
Senderek, J.17
Neuhaus, T.J.18
Stallmach, T.19
Zentgraf, H.20
Nürnberg, P.21
Gretz, N.22
Lo, C.23
Lienkamp, S.24
Schäfer, T.25
Walz, G.26
Benzing, T.27
Zerres, K.28
Omran, H.29
more..
-
63
-
-
66349117479
-
Glis 3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease
-
Kang HS, Beak JY, Kim YS, Herbert R, Jetten AM. Glis 3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease. Mol Cell Biol. 2009;29:2556-69.
-
(2009)
Mol Cell Biol
, vol.29
, pp. 2556-2569
-
-
Kang, H.S.1
Beak, J.Y.2
Kim, Y.S.3
Herbert, R.4
Jetten, A.M.5
-
64
-
-
36849037019
-
A critical developmental switch defines the kinetics of kidney cyst formation after loss of pkd1
-
Piontek K, Menezes LF, Garcia-Gonzalez MA, Huso DL, Germino GG. A critical developmental switch defines the kinetics of kidney cyst formation after loss of pkd1. Nat Med. 2007;13:1490-5.
-
(2007)
Nat Med
, vol.13
, pp. 1490-1495
-
-
Piontek, K.1
Menezes, L.F.2
Garcia-Gonzalez, M.A.3
Huso, D.L.4
Germino, G.G.5
-
66
-
-
28844460656
-
Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease ?
-
Hildebrandt F, Otto E. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease ? Nat Rev Genet. 2005;6:928-4.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 928-934
-
-
Hildebrandt, F.1
Otto, E.2
-
67
-
-
0037317302
-
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
-
Nauli SM, Alenghat FJ, Luo Y, Williams E, Vassilev P, Li X, Elia AE, Lu W, Brown EM, Quinn SJ, Ingber DE, Zhou J. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet. 2003;33:129-37.
-
(2003)
Nat Genet
, vol.33
, pp. 129-137
-
-
Nauli, S.M.1
Alenghat, F.J.2
Luo, Y.3
Williams, E.4
Vassilev, P.5
Li, X.6
Elia, A.E.7
Lu, W.8
Brown, E.M.9
Quinn, S.J.10
Ingber, D.E.11
Zhou, J.12
-
69
-
-
84883454373
-
Assembling a primary cilium
-
Kim S, Dynlacht BD. Assembling a primary cilium. Curr Opin Cell Biol. 2013;25(4):506-11.
-
(2013)
Curr Opin Cell Biol
, vol.25
, Issue.4
, pp. 506-511
-
-
Kim, S.1
Dynlacht, B.D.2
-
70
-
-
77956375302
-
NPHP proteins: gatekeepers of the ciliary compartment
-
Omran H. NPHP proteins: gatekeepers of the ciliary compartment. J Cell Biol. 2010;190(5):715-7.
-
(2010)
J Cell Biol
, vol.190
, Issue.5
, pp. 715-717
-
-
Omran, H.1
-
71
-
-
54849435468
-
Outcomes of kidney transplantation in children with nephronophthisis: an analysis of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry
-
Hamiwka LA, Midgley JP, Wade AW, Martz KL, Grisaru S. Outcomes of kidney transplantation in children with nephronophthisis: an analysis of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry. Pediatr Transplant. 2008;12:878-82.
-
(2008)
Pediatr Transplant
, vol.12
, pp. 878-882
-
-
Hamiwka, L.A.1
Midgley, J.P.2
Wade, A.W.3
Martz, K.L.4
Grisaru, S.5
-
72
-
-
0016160226
-
Cystic diseases of the kidney: a perspective on medullary cystic disease
-
Gardner KD. Cystic diseases of the kidney: a perspective on medullary cystic disease. Birth Defects Orig Artic Ser. 1974;10:29-31.
-
(1974)
Birth Defects Orig Artic Ser
, vol.10
, pp. 29-31
-
-
Gardner, K.D.1
-
73
-
-
0014006648
-
Hereditary occurrence of cystic disease of the renal medulla
-
Goldman SH, Walker SR, Merigan TCJ, Gardner KDJ, Bull JM. Hereditary occurrence of cystic disease of the renal medulla. N Engl J Med. 1966;274:984-92.
-
(1966)
N Engl J Med
, vol.274
, pp. 984-992
-
-
Goldman, S.H.1
Walker, S.R.2
Merigan, T.C.J.3
Gardner, K.D.J.4
Bull, J.M.5
-
74
-
-
0014211123
-
Medullary cystic disease and familial juvenile nephronophthisis
-
Strauss MB, Sommers SC. Medullary cystic disease and familial juvenile nephronophthisis. N Engl J Med. 1967;277:863-4.
-
(1967)
N Engl J Med
, vol.277
, pp. 863-864
-
-
Strauss, M.B.1
Sommers, S.C.2
-
75
-
-
18544388555
-
Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families
-
Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC. Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int. 2002;62:1385-94.
-
(2002)
Kidney Int
, vol.62
, pp. 1385-1394
-
-
Stavrou, C.1
Koptides, M.2
Tombazos, C.3
Psara, E.4
Patsias, C.5
Zouvani, I.6
Kyriacou, K.7
Hildebrandt, F.8
Christofides, T.9
Pierides, A.10
Deltas, C.C.11
-
76
-
-
0033358592
-
Identification of a new locus for medullary cystic disease, on chromosome 16p12
-
Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, Aridon P, De Fusco M, Ballabio A, Casari G. Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am J Hum Genet. 1999;64:1655-60.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1655-1660
-
-
Scolari, F.1
Puzzer, D.2
Amoroso, A.3
Caridi, G.4
Ghiggeri, G.M.5
Maiorca, R.6
Aridon, P.7
De Fusco, M.8
Ballabio, A.9
Casari, G.10
-
77
-
-
0033850904
-
Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family
-
Kamatani N, Moritani M, Yamanaka H, Takeuchi F, Hosoya T, Itakura M. Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family. Arthritis Rheum. 2000;43:925-9.
-
(2000)
Arthritis Rheum
, vol.43
, pp. 925-929
-
-
Kamatani, N.1
Moritani, M.2
Yamanaka, H.3
Takeuchi, F.4
Hosoya, T.5
Itakura, M.6
-
78
-
-
84874662323
-
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
-
Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013;45:299-303.
-
(2013)
Nat Genet
, vol.45
, pp. 299-303
-
-
Kirby, A.1
Gnirke, A.2
Jaffe, D.B.3
Barešová, V.4
Pochet, N.5
Blumenstiel, B.6
Ye, C.7
Aird, D.8
Stevens, C.9
Robinson, J.T.10
Cabili, M.N.11
Gat-Viks, I.12
Kelliher, E.13
Daza, R.14
DeFelice, M.15
Hůlková, H.16
Sovová, J.17
Vylet'al, P.18
Antignac, C.19
Guttman, M.20
Handsaker, R.E.21
Perrin, D.22
Steelman, S.23
Sigurdsson, S.24
Scheinman, S.J.25
Sougnez, C.26
Cibulskis, K.27
Parkin, M.28
Green, T.29
Rossin, E.30
Zody, M.C.31
Xavier, R.J.32
Pollak, M.R.33
Alper, S.L.34
Lindblad-Toh, K.35
Gabriel, S.36
Hart, P.S.37
Regev, A.38
Nusbaum, C.39
Kmoch, S.40
Bleyer, A.J.41
Lander, E.S.42
Daly, M.J.43
more..
-
79
-
-
10744224657
-
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains
-
Wolf MT, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HP, Rahman N, Bader B, Baldamus CA, Otto E, Witzgall R, Fuchshuber A, Hildebrandt F. Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. Kidney Int. 2003;64:1580-7.
-
(2003)
Kidney Int
, vol.64
, pp. 1580-1587
-
-
Wolf, M.T.1
Mucha, B.E.2
Attanasio, M.3
Zalewski, I.4
Karle, S.M.5
Neumann, H.P.6
Rahman, N.7
Bader, B.8
Baldamus, C.A.9
Otto, E.10
Witzgall, R.11
Fuchshuber, A.12
Hildebrandt, F.13
-
80
-
-
85055235110
-
-
American Society of Nephrology Annual Meeting, abstract 134
-
Mutig K, Kahl T, Saritas T, Godes M,Persson P, Bates J, Raffi H, Rampoldi L, Uchida S, Hille S, Dosche C, Kumar S, Castaneda-Bueno M, Gamba G, Bachmann S. Na + K + 2Cl-Cotransporter (NKCC2) is regulated by Tamm-Horsfall-Protein (THP. American Society of Nephrology Annual Meeting, 2008; abstract 134.
-
(2008)
Na + K + 2Cl-Cotransporter (NKCC2) is regulated by Tamm-Horsfall-Protein (THP
-
-
Mutig, K.1
Kahl, T.2
Saritas, T.3
Godes, M.4
Persson, P.5
Bates, J.6
Raffi, H.7
Rampoldi, L.8
Uchida, S.9
Hille, S.10
Dosche, C.11
Kumar, S.12
Castaneda-Bueno, M.13
Gamba, G.14
Bachmann, S.15
-
81
-
-
78751528090
-
Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function
-
Renigunta A, Renigunta V, Saritas T, Decher N, Mutig K, Waldegger S. Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function. J Biol Chem. 2011;286:2224-35.
-
(2011)
J Biol Chem
, vol.286
, pp. 2224-2235
-
-
Renigunta, A.1
Renigunta, V.2
Saritas, T.3
Decher, N.4
Mutig, K.5
Waldegger, S.6
-
82
-
-
68249127890
-
Dominant renin gene mutations associated with early onset hyperuricemia, anemia and chronic kidney failure
-
Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gubler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S. Dominant renin gene mutations associated with early onset hyperuricemia, anemia and chronic kidney failure. Am J Hum Genet. 2009;85:204-13.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 204-213
-
-
Zivná, M.1
Hůlková, H.2
Matignon, M.3
Hodanová, K.4
Vylet'al, P.5
Kalbácová, M.6
Baresová, V.7
Sikora, J.8
Blazková, H.9
Zivný, J.10
Ivánek, R.11
Stránecký, V.12
Sovová, J.13
Claes, K.14
Lerut, E.15
Fryns, J.P.16
Hart, P.S.17
Hart, T.C.18
Adams, J.N.19
Pawtowski, A.20
Clemessy, M.21
Gasc, J.M.22
Gubler, M.C.23
Antignac, C.24
Elleder, M.25
Kapp, K.26
Grimbert, P.27
Bleyer, A.J.28
Kmoch, S.29
more..
-
83
-
-
33744475145
-
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing
-
Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, Karle SM, Otto EA, Deltas CC, Fuchshuber A, Hildebrandt F. Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet. 2006;119:649-5.
-
(2006)
Hum Genet
, vol.119
, pp. 649-655
-
-
Wolf, M.T.1
Mucha, B.E.2
Hennies, H.C.3
Attanasio, M.4
Panther, F.5
Zalewski, I.6
Karle, S.M.7
Otto, E.A.8
Deltas, C.C.9
Fuchshuber, A.10
Hildebrandt, F.11
-
84
-
-
0036914069
-
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
-
Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. 2002;39(12):882-92.
-
(2002)
J Med Genet
, vol.39
, Issue.12
, pp. 882-892
-
-
Hart, T.C.1
Gorry, M.C.2
Hart, P.S.3
Woodard, A.S.4
Shihabi, Z.5
Sandhu, J.6
Shirts, B.7
Xu, L.8
Zhu, H.9
Barmada, M.M.10
Bleyer, A.J.11
-
85
-
-
9344219895
-
Uromodulin storage disease: clinical aspects and mechanisms
-
Scolari F, Caridi G, Rampoldi L, Tardanico R, Izzi C, Pirulli D, Amoroso A, Casari G, Ghiggeri GM. Uromodulin storage disease: clinical aspects and mechanisms. Am J Kidney Dis. 2004;44:987-99.
-
(2004)
Am J Kidney Dis
, vol.44
, pp. 987-999
-
-
Scolari, F.1
Caridi, G.2
Rampoldi, L.3
Tardanico, R.4
Izzi, C.5
Pirulli, D.6
Amoroso, A.7
Casari, G.8
Ghiggeri, G.M.9
-
86
-
-
80054004978
-
Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations
-
Bollée G, Dahan K, Flamant M, Morinière V, Pawtowski A, Heidet L, Lacombe D, Devuyst O, Pirson Y, Antignac C, Knebelmann B. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol. 2011;6:2429-38.
-
(2011)
Clin J Am Soc Nephrol
, vol.6
, pp. 2429-2438
-
-
Bollée, G.1
Dahan, K.2
Flamant, M.3
Morinière, V.4
Pawtowski, A.5
Heidet, L.6
Lacombe, D.7
Devuyst, O.8
Pirson, Y.9
Antignac, C.10
Knebelmann, B.11
-
87
-
-
3242772184
-
Homozygosity for uromodulin disorders: FJHN and MCKD-type 2
-
Rezende-Lima W, Parreira KS, Garcia-Gonzalez M, Riveira E, Banet JF, Lens XM. Homozygosity for uromodulin disorders: FJHN and MCKD-type 2. Kidney Int. 2004;66:558-63.
-
(2004)
Kidney Int
, vol.66
, pp. 558-563
-
-
Rezende-Lima, W.1
Parreira, K.S.2
Garcia-Gonzalez, M.3
Riveira, E.4
Banet, J.F.5
Lens, X.M.6
|