-
1
-
-
77049339267
-
Die familiäre juvenile Nephronophthise
-
Fanconi G, Hanhart E, 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
Albertini, A.3
Uhlinger, E.4
Dolivo, G.5
Prader, A.6
-
2
-
-
0001660623
-
Congenital medullary cysts of the kidneys with severe refractory anemia
-
Smith CH, Graham JB: Congenital medullary cysts of the kidneys with severe refractory anemia. Am J Dis Child 1945; 69: 370-378.
-
(1945)
Am J Dis Child
, vol.69
, pp. 370-378
-
-
Smith, C.H.1
Graham, J.B.2
-
4
-
-
0014128429
-
Nephronophthisis and medullary cystic disease
-
Mongeau JG, Worthen HG: Nephronophthisis and medullary cystic disease. Am J Med 1967; 43: 345-355.
-
(1967)
Am J Med
, vol.43
, pp. 345-355
-
-
Mongeau, J.G.1
Worthen, H.G.2
-
5
-
-
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: 863-864.
-
(1967)
N Engl J Med
, vol.277
, pp. 863-864
-
-
Strauss, M.B.1
Sommers, S.C.2
-
6
-
-
0014006648
-
Hereditary occurrence of cystic disease of the renal medulla
-
Goldman SH, Walker SR, Merigan TC, Gardner KD, Bull JMC: Hereditary occurrence of cystic disease of the renal medulla. N Engl J Med 1966; 274: 984-992.
-
(1966)
N Engl J Med
, vol.274
, pp. 984-992
-
-
Goldman, S.H.1
Walker, S.R.2
Merigan, T.C.3
Gardner, K.D.4
Bull, J.M.C.5
-
7
-
-
0014984851
-
Evolution of clinical signs in adult onset cystic disease of the renal medulla
-
Gardner KD: Evolution of clinical signs in adult onset cystic disease of the renal medulla. Ann Intern Med 1971; 74: 47-54.
-
(1971)
Ann Intern Med
, vol.74
, pp. 47-54
-
-
Gardner, K.D.1
-
8
-
-
0017705554
-
Hereditary nephronophthisis with a life span of three decades
-
Collan Y, Sipponen P, Haapanen E, Lindahl J, Jokinen EJ, Hjelt L: Hereditary nephronophthisis with a life span of three decades. Virchows Arch (A) 1977; 376: 195-208.
-
(1977)
Virchows Arch (A)
, vol.376
, pp. 195-208
-
-
Collan, Y.1
Sipponen, P.2
Haapanen, E.3
Lindahl, J.4
Jokinen, E.J.5
Hjelt, L.6
-
9
-
-
0003113298
-
Nephronophthisis
-
Cameron JC, Davison AM, Grunfeld JP, Kers KNS, Ritz E (eds). Oxford University Press: Oxford, England
-
Kleinknecht C, Habib R: Nephronophthisis. In: Cameron JC, Davison AM, Grunfeld JP, Kers KNS, Ritz E (eds). Textbook of Clinical Nephrology. Oxford University Press: Oxford, England, 1992, pp 2188-2197.
-
(1992)
Textbook of Clinical Nephrology
, pp. 2188-2197
-
-
Kleinknecht, C.1
Habib, R.2
-
10
-
-
0020062324
-
The nephronophthisis complex
-
Waldherr R, Lennert T, Weber H-P, Födisch HJ, Schärer K: The nephronophthisis complex. Virchows Arch (A) 1982; 394: 235-254.
-
(1982)
Virchows Arch (A)
, vol.394
, pp. 235-254
-
-
Waldherr, R.1
Lennert, T.2
Weber, H.-P.3
Födisch, H.J.4
Schärer, K.5
-
11
-
-
0000784877
-
Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy
-
Senior B, Friedmann AI, Braupo JL: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. Am J Ophthalmol 1961; 52: 625-633.
-
(1961)
Am J Ophthalmol
, vol.52
, pp. 625-633
-
-
Senior, B.1
Friedmann, A.I.2
Braupo, J.L.3
-
13
-
-
0015535125
-
Congenital hepatic fibrosis and nephronophthisis
-
Boichis H, Passwell J, David R, Miller H: Congenital hepatic fibrosis and nephronophthisis. Q J Med 1973; 42: 221-233.
-
(1973)
Q J Med
, vol.42
, pp. 221-233
-
-
Boichis, H.1
Passwell, J.2
David, R.3
Miller, H.4
-
14
-
-
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: 556-562.
-
(1970)
Am J Med
, vol.49
, pp. 556-562
-
-
Mainzer, F.1
Saldino, R.M.2
Ozonoff, M.B.3
Minagi, H.4
-
15
-
-
0023939467
-
Juvenile nephronophthisis with calcification of basal ganglia and pancreatic insufficiency
-
Raafat F, Morita M, Lau M, Taylor C-M, White RHR: Juvenile nephronophthisis with calcification of basal ganglia and pancreatic insufficiency. Arch Pathol Lab Med 1988; 112: 630-633.
-
(1988)
Arch Pathol Lab Med
, vol.112
, pp. 630-633
-
-
Raafat, F.1
Morita, M.2
Lau, M.3
Taylor, C.-M.4
White, R.H.R.5
-
16
-
-
0027402309
-
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p
-
Antignac C, Arduy CH, Beckmann JS et al: A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nat Genet 1993; 3: 342-345.
-
(1993)
Nat Genet
, vol.3
, pp. 342-345
-
-
Antignac, C.1
Arduy, C.H.2
Beckmann, J.S.3
-
17
-
-
0027362256
-
Mapping of a gene for familial juvenile nephronophthisis: Refining the map and defining flanking markers on chromosome 2
-
Hildebrandt F, Singh-Sawhney I, Schnieders B et al: Mapping of a gene for familial juvenile nephronophthisis: Refining the map and defining flanking markers on chromosome 2. Am J Hum Genet 1993; 53: 1256-1261.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1256-1261
-
-
Hildebrandt, F.1
Singh-Sawhney, I.2
Schnieders, B.3
-
18
-
-
0028169982
-
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence of genetic heterogeneity
-
Medhioub M, Cherif D, Benessy F et al: Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence of genetic heterogeneity. Genomics 1994; 22: 296-301.
-
(1994)
Genomics
, vol.22
, pp. 296-301
-
-
Medhioub, M.1
Cherif, D.2
Benessy, F.3
-
19
-
-
9044227270
-
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
-
Konrad M, Saunier S, Heidet L et al: Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 1996; 5: 367-371.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 367-371
-
-
Konrad, M.1
Saunier, S.2
Heidet, L.3
-
20
-
-
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: 149-153.
-
(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
-
21
-
-
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 et al: 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: 2317-2323.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2317-2323
-
-
Saunier, S.1
Calado, J.2
Heilig, R.3
-
23
-
-
0031957258
-
Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism
-
Ala-Mello S, Sankila E-M, Koskimies O, de la Chapelle A, Kääriäinen H: Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism. J Med Genet 1998; 35: 279-283.
-
(1998)
J Med Genet
, vol.35
, pp. 279-283
-
-
Ala-Mello, S.1
Sankila, E.-M.2
Koskimies, O.3
De La Chapelle, A.4
Kääriäinen, H.5
-
24
-
-
0029762159
-
Mechanism underlying early anaemia in children with familial juvenile nephronophthisis
-
Ala-Mello S, Kivivuori SM, Rönnholm KAR, Koskimies O, Siimes MA: Mechanism underlying early anaemia in children with familial juvenile nephronophthisis. Pediatr Nephrol 1996; 10: 578-581.
-
(1996)
Pediatr Nephrol
, vol.10
, pp. 578-581
-
-
Ala-Mello, S.1
Kivivuori, S.M.2
Rönnholm, K.A.R.3
Koskimies, O.4
Siimes, M.A.5
-
25
-
-
0031055335
-
Molecular genetic identification of families with juvenile nephronophthisis type 1: Rate of progression to renal failure
-
Hildebrandt F, Strahm B, Nothwang HG et al (Members of the APN Study Group: Molecular genetic identification of families with juvenile nephronophthisis type 1: Rate of progression to renal failure. Kidney Int 1997; 51: 261-269.
-
(1997)
Kidney Int
, vol.51
, pp. 261-269
-
-
Hildebrandt, F.1
Strahm, B.2
Nothwang, H.G.3
|