-
1
-
-
84923186960
-
Causes and pathogenesis of focal segmental glomerulosclerosis
-
Fogo AB: Causes and pathogenesis of focal segmental glomerulosclerosis. Nat Rev Nephrol 2015; 11: 76-87.
-
(2015)
Nat Rev Nephrol
, vol.11
, pp. 76-87
-
-
Fogo, A.B.1
-
3
-
-
73349132341
-
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis
-
Brown EJ, Schlondorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR: Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet 2010; 42: 72-76.
-
(2010)
Nat Genet
, vol.42
, pp. 72-76
-
-
Brown, E.J.1
Schlondorff, J.S.2
Becker, D.J.3
Tsukaguchi, H.4
Tonna, S.J.5
Uscinski, A.L.6
Higgs, H.N.7
Henderson, J.M.8
Pollak, M.R.9
-
4
-
-
79551656622
-
Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis
-
Boyer O, Benoit G, Gribouval O, Nevo F, Tete MJ, Dantal J, Gilbert-Dussardier B, Touchard G, Karras A, Presne C, Grunfeld JP, Legendre C, Joly D, Rieu P, Mohsin N, Hannedouche T, Moal V, Gubler MC, Broutin I, Mollet G, Antignac C: Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol 2011; 22: 239-245.
-
(2011)
J Am Soc Nephrol
, vol.22
, pp. 239-245
-
-
Boyer, O.1
Benoit, G.2
Gribouval, O.3
Nevo, F.4
Tete, M.J.5
Dantal, J.6
Gilbert-Dussardier, B.7
Touchard, G.8
Karras, A.9
Presne, C.10
Grunfeld, J.P.11
Legendre, C.12
Joly, D.13
Rieu, P.14
Mohsin, N.15
Hannedouche, T.16
Moal, V.17
Gubler, M.C.18
Broutin, I.19
Mollet, G.20
Antignac, C.21
more..
-
5
-
-
0032015551
-
Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome
-
Kestila M, Lenkkeri U, Mannikko M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K: Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell 1998; 1: 575-582.
-
(1998)
Mol Cell
, vol.1
, pp. 575-582
-
-
Kestila, M.1
Lenkkeri, U.2
Mannikko, M.3
Lamerdin, J.4
McCready, P.5
Putaala, H.6
Ruotsalainen, V.7
Morita, T.8
Nissinen, M.9
Herva, R.10
Kashtan, C.E.11
Peltonen, L.12
Holmberg, C.13
Olsen, A.14
Tryggvason, K.15
-
7
-
-
79960877647
-
MYO1E mutations and childhood familial focal segmental glomerulosclerosis
-
PodoNet Consortium
-
Mele C, Iatropoulos P, Donadelli R, Calabria A, Maranta R, Cassis P, Buelli S, Tomasoni S, Piras R, Krendel M, Bettoni S, Morigi M, Delledonne M, Pecoraro C, Abbate I, Capobianchi MR, Hildebrandt F, Otto E, Schaefer F, Macciardi F, Ozaltin F, Emre S, Ibsirlioglu T, Benigni A, Remuzzi G, Noris M; PodoNet Consortium: MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N Engl J Med 2011; 365: 295-306.
-
(2011)
N Engl J Med
, vol.365
, pp. 295-306
-
-
Mele, C.1
Iatropoulos, P.2
Donadelli, R.3
Calabria, A.4
Maranta, R.5
Cassis, P.6
Buelli, S.7
Tomasoni, S.8
Piras, R.9
Krendel, M.10
Bettoni, S.11
Morigi, M.12
Delledonne, M.13
Pecoraro, C.14
Abbate, I.15
Capobianchi, M.R.16
Hildebrandt, F.17
Otto, E.18
Schaefer, F.19
Macciardi, F.20
Ozaltin, F.21
Emre, S.22
Ibsirlioglu, T.23
Benigni, A.24
Remuzzi, G.25
Noris, M.26
more..
-
8
-
-
0242594752
-
Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis
-
Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Liu LL, Wong LJ: Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis. Am J Med Genet A 2003; 123A:172-178.
-
(2003)
Am J Med Genet A
, vol.123 A
, pp. 172-178
-
-
Scaglia, F.1
Vogel, H.2
Hawkins, E.P.3
Vladutiu, G.D.4
Liu, L.L.5
Wong, L.J.6
-
9
-
-
77955646179
-
Association of trypanolytic ApoL1 variants with kidney disease in African Americans
-
Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR: Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science 2010; 329: 841-845.
-
(2010)
Science
, vol.329
, pp. 841-845
-
-
Genovese, G.1
Friedman, D.J.2
Ross, M.D.3
Lecordier, L.4
Uzureau, P.5
Freedman, B.I.6
Bowden, D.W.7
Langefeld, C.D.8
Oleksyk, T.K.9
Uscinski Knob, A.L.10
Bernhardy, A.J.11
Hicks, P.J.12
Nelson, G.W.13
Vanhollebeke, B.14
Winkler, C.A.15
Kopp, J.B.16
Pays, E.17
Pollak, M.R.18
-
10
-
-
77956063973
-
Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene
-
Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A, Bekele E, Bradman N, Wasser WG, Behar DM, Skorecki K: Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene. Hum Genet 2010; 128: 345-350.
-
(2010)
Hum Genet
, vol.128
, pp. 345-350
-
-
Tzur, S.1
Rosset, S.2
Shemer, R.3
Yudkovsky, G.4
Selig, S.5
Tarekegn, A.6
Bekele, E.7
Bradman, N.8
Wasser, W.G.9
Behar, D.M.10
Skorecki, K.11
-
11
-
-
0141674966
-
Thin basement membrane nephropathy
-
Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY: Thin basement membrane nephropathy. Kidney Int 2003; 64: 1169-1178.
-
(2003)
Kidney Int
, vol.64
, pp. 1169-1178
-
-
Savige, J.1
Rana, K.2
Tonna, S.3
Buzza, M.4
Dagher, H.5
Wang, Y.Y.6
-
14
-
-
0022003679
-
Abnormally thin glomerular basement membranes associated with hematuria, proteinuria or renal failure in adults
-
Dische FE, Weston MJ, Parsons V: Abnormally thin glomerular basement membranes associated with hematuria, proteinuria or renal failure in adults. Am J Nephrol 1985; 5: 103-109.
-
(1985)
Am J Nephrol
, vol.5
, pp. 103-109
-
-
Dische, F.E.1
Weston, M.J.2
Parsons, V.3
-
15
-
-
0030900198
-
Thin GBM nephropathy: Premature glomerular obsolescence is associated with hypertension and late onset renal failure
-
Nieuwhof CM, de Heer F, de Leeuw P, van Breda Vriesman PJ: Thin GBM nephropathy: premature glomerular obsolescence is associated with hypertension and late onset renal failure. Kidney Int 1997; 51: 1596-1601.
-
(1997)
Kidney Int
, vol.51
, pp. 1596-1601
-
-
Nieuwhof, C.M.1
De Heer, F.2
De Leeuw, P.3
Van Vriesman, B.P.J.4
-
16
-
-
0034164618
-
Thin basement membrane disease with heavy proteinuria or nephrotic syndrome at presentation
-
Nogueira M, Cartwright J Jr, Horn K, Doe N, Shappell S, Barrios R, Coroneos E, Truong LD: Thin basement membrane disease with heavy proteinuria or nephrotic syndrome at presentation. Am J Kidney Dis 2000; 35:E15.
-
(2000)
Am J Kidney Dis
, vol.35
, pp. E15
-
-
Nogueira, M.1
Cartwright, J.2
Horn, K.3
Doe, N.4
Shappell, S.5
Barrios, R.6
Coroneos, E.7
Truong, L.D.8
-
17
-
-
4344685290
-
Signs and symptoms of thin basement membrane nephropathy: A prospective regional study on primary glomerular disease\-The limburg renal registry
-
van Paassen P, van Breda Vriesman PJ, van Rie H, Tervaert JW: Signs and symptoms of thin basement membrane nephropathy: a prospective regional study on primary glomerular disease\-The limburg renal registry. Kidney Int 2004; 66: 909-913.
-
(2004)
Kidney Int
, vol.66
, pp. 909-913
-
-
Van Paassen, P.1
Van Vriesman, B.P.J.2
Van Rie, H.3
Tervaert, J.W.4
-
18
-
-
18844392067
-
The clinical features of thin basement membrane nephropathy
-
Gregory MC: The clinical features of thin basement membrane nephropathy. Semin Nephrol 2005; 25: 140-145.
-
(2005)
Semin Nephrol
, vol.25
, pp. 140-145
-
-
Gregory, M.C.1
-
19
-
-
80051769283
-
Persistent asymptomatic isolated microscopic hematuria in Israeli adolescents and young adults and risk for end-stage renal disease
-
Vivante A, Afek A, Frenkel-Nir Y, Tzur D, Farfel A, Golan E, Chaiter Y, Shohat T, Skorecki K, Calderon-Margalit R: Persistent asymptomatic isolated microscopic hematuria in Israeli adolescents and young adults and risk for end-stage renal disease. JAMA 2011; 306: 729-736.
-
(2011)
JAMA
, vol.306
, pp. 729-736
-
-
Vivante, A.1
Afek, A.2
Frenkel-Nir, Y.3
Tzur, D.4
Farfel, A.5
Golan, E.6
Chaiter, Y.7
Shohat, T.8
Skorecki, K.9
Calderon-Margalit, R.10
-
20
-
-
1242338042
-
Clinical features of thin basement membrane disease and associated glomerulopathies
-
Sue YM, Huang JJ, Hsieh RY, Chen FF: Clinical features of thin basement membrane disease and associated glomerulopathies. Nephrology (Carlton) 2004; 9: 14-18.
-
(2004)
Nephrology (Carlton)
, vol.9
, pp. 14-18
-
-
Sue, Y.M.1
Huang, J.J.2
Hsieh, R.Y.3
Chen, F.F.4
-
21
-
-
33646688707
-
Thin glomerular basement membrane nephropathy: Incidence in 3471 consecutive renal biopsies examined by electron microscopy
-
Haas M: Thin glomerular basement membrane nephropathy: incidence in 3471 consecutive renal biopsies examined by electron microscopy. Arch Pathol Lab Med 2006; 130: 699-706.
-
(2006)
Arch Pathol Lab Med
, vol.130
, pp. 699-706
-
-
Haas, M.1
-
22
-
-
18844415631
-
Thin basement membrane nephropathy associated with other glomerular diseases
-
Norby SM, Cosio FG: Thin basement membrane nephropathy associated with other glomerular diseases. Semin Nephrol 2005; 25: 176-179.
-
(2005)
Semin Nephrol
, vol.25
, pp. 176-179
-
-
Norby, S.M.1
Cosio, F.G.2
-
23
-
-
0029738295
-
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene
-
Lemmink HH, Nillesen WN, Mochizuki T, Schroder CH, Brunner HG, van Oost BA, Monnens LA, Smeets HJ: Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. J Clin Invest 1996; 98: 1114-1118.
-
(1996)
J Clin Invest
, vol.98
, pp. 1114-1118
-
-
Lemmink, H.H.1
Nillesen, W.N.2
Mochizuki, T.3
Schroder, C.H.4
Brunner, H.G.5
Van Oost, B.A.6
Monnens, L.A.7
Smeets, H.J.8
-
24
-
-
35848944448
-
COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy
-
Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C: COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. J Am Soc Nephrol 2007; 18: 3004-3016.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 3004-3016
-
-
Voskarides, K.1
Damianou, L.2
Neocleous, V.3
Zouvani, I.4
Christodoulidou, S.5
Hadjiconstantinou, V.6
Ioannou, K.7
Athanasiou, Y.8
Patsias, C.9
Alexopoulos, E.10
Pierides, A.11
Kyriacou, K.12
Deltas, C.13
-
25
-
-
69249108050
-
Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the col4a3/ col4a4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis
-
Pierides A, Voskarides K, Athanasiou Y, Ioannou K, Damianou L, Arsali M, Zavros M, Pierides M, Vargemezis V, Patsias C, Zouvani I, Elia A, Kyriacou K, Deltas C: Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis. Nephrol Dial Transplant 2009; 24: 2721-2729.
-
(2009)
Nephrol Dial Transplant
, vol.24
, pp. 2721-2729
-
-
Pierides, A.1
Voskarides, K.2
Athanasiou, Y.3
Ioannou, K.4
Damianou, L.5
Arsali, M.6
Zavros, M.7
Pierides, M.8
Vargemezis, V.9
Patsias, C.10
Zouvani, I.11
Elia, A.12
Kyriacou, K.13
Deltas, C.14
-
27
-
-
45549091886
-
COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century
-
Voskarides K, Patsias C, Pierides A, Deltas C: COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century. Genet Test 2008; 12: 273-278.
-
(2008)
Genet Test
, vol.12
, pp. 273-278
-
-
Voskarides, K.1
Patsias, C.2
Pierides, A.3
Deltas, C.4
-
28
-
-
84863984599
-
The role of molecular genetics in diagnosing familial hematuria(s)
-
Deltas C, Pierides A, Voskarides K: The role of molecular genetics in diagnosing familial hematuria(s). Pediatr Nephrol 2012; 27: 1221-1231.
-
(2012)
Pediatr Nephrol
, vol.27
, pp. 1221-1231
-
-
Deltas, C.1
Pierides, A.2
Voskarides, K.3
-
29
-
-
33645461560
-
Thin basement membrane nephropathy
-
Tryggvason K, Patrakka J: Thin basement membrane nephropathy. J Am Soc Nephrol 2006; 17: 813-822.
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 813-822
-
-
Tryggvason, K.1
Patrakka, J.2
-
30
-
-
84918832613
-
Frequency of col4a3/col4a4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response Focal and segmental glomerulosclerosis is a frequent development during ageing
-
Papazachariou L, Demosthenous P, Pieri M, Papagregoriou G, Savva I, Stavrou C, Zavros M, Athanasiou Y, Ioannou K, Patsias C, Panagides A, Potamitis C, Demetriou K, Prikis M, Hadjigavriel M, Kkolou M, Loukaidou P, Pastelli A, Michael A, Lazarou A, Arsali M, Damianou L, Goutziamani I, Soloukides A, Yioukas L, Elia A, Zouvani I, Polycarpou P, Pierides A, Voskarides K, Deltas C: Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing. PLoS One 2014; 9:e115015.
-
(2014)
PLoS One
, vol.9
, pp. e115015
-
-
Papazachariou, L.1
Demosthenous, P.2
Pieri, M.3
Papagregoriou, G.4
Savva, I.5
Stavrou, C.6
Zavros, M.7
Athanasiou, Y.8
Ioannou, K.9
Patsias, C.10
Panagides, A.11
Potamitis, C.12
Demetriou, K.13
Prikis, M.14
Hadjigavriel, M.15
Kkolou, M.16
Loukaidou, P.17
Pastelli, A.18
Michael, A.19
Lazarou, A.20
Arsali, M.21
Damianou, L.22
Goutziamani, I.23
Soloukides, A.24
Yioukas, L.25
Elia, A.26
Zouvani, I.27
Polycarpou, P.28
Pierides, A.29
Voskarides, K.30
Deltas, C.31
more..
-
31
-
-
84907598667
-
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases
-
Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, Mari F, Bruttini M, Renieri A, Ariani F: Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. Clin Genet 2014; 86: 252-257.
-
(2014)
Clin Genet
, vol.86
, pp. 252-257
-
-
Fallerini, C.1
Dosa, L.2
Tita, R.3
Del Prete, D.4
Feriozzi, S.5
Gai, G.6
Clementi, M.7
La Manna, A.8
Miglietti, N.9
Mancini, R.10
Mandrile, G.11
Ghiggeri, G.M.12
Piaggio, G.13
Brancati, F.14
Diano, L.15
Frate, E.16
Pinciaroli, A.R.17
Giani, M.18
Castorina, P.19
Bresin, E.20
Giachino, D.21
De Marchi, M.22
Mari, F.23
Bruttini, M.24
Renieri, A.25
Ariani, F.26
more..
-
32
-
-
65249093635
-
Autosomal dominant Alport syndrome: Molecular analysis of the COL4A4 gene and clinical outcome
-
Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombola G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F: Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. Nephrol Dial Transplant 2009; 24: 1464-1471.
-
(2009)
Nephrol Dial Transplant
, vol.24
, pp. 1464-1471
-
-
Marcocci, E.1
Uliana, V.2
Bruttini, M.3
Artuso, R.4
Silengo, M.C.5
Zerial, M.6
Bergesio, F.7
Amoroso, A.8
Savoldi, S.9
Pennesi, M.10
Giachino, D.11
Rombola, G.12
Fogazzi, G.B.13
Rosatelli, C.14
Martinhago, C.D.15
Carmellini, M.16
Mancini, R.17
Di Costanzo, G.18
Longo, I.19
Renieri, A.20
Mari, F.21
more..
-
33
-
-
0036106143
-
COL4A3/ COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome
-
Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frasca G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M: COL4A3/ COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int 2002; 61: 1947-1956.
-
(2002)
Kidney Int
, vol.61
, pp. 1947-1956
-
-
Longo, I.1
Porcedda, P.2
Mari, F.3
Giachino, D.4
Meloni, I.5
Deplano, C.6
Brusco, A.7
Bosio, M.8
Massella, L.9
Lavoratti, G.10
Roccatello, D.11
Frasca, G.12
Mazzucco, G.13
Muda, A.O.14
Conti, M.15
Fasciolo, F.16
Arrondel, C.17
Heidet, L.18
Renieri, A.19
De Marchi, M.20
more..
-
34
-
-
2342647451
-
Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene
-
Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A: Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int 2004; 65: 1598-1603.
-
(2004)
Kidney Int
, vol.65
, pp. 1598-1603
-
-
Pescucci, C.1
Mari, F.2
Longo, I.3
Vogiatzi, P.4
Caselli, R.5
Scala, E.6
Abaterusso, C.7
Gusmano, R.8
Seri, M.9
Miglietti, N.10
Bresin, E.11
Renieri, A.12
-
35
-
-
33750122641
-
Autosomal dominant Alport's syndrome: Study of a large Tunisian family
-
Kharrat M, Makni S, Makni K, Kammoun K, Charfeddine K, Azaeiz H, Jarraya F, Ben Hmida M, Gubler MC, Ayadi H, Hachicha J: Autosomal dominant Alport's syndrome: study of a large Tunisian family. Saudi J Kidney Dis Transpl 2006; 17: 320-325.
-
(2006)
Saudi J Kidney Dis Transpl
, vol.17
, pp. 320-325
-
-
Kharrat, M.1
Makni, S.2
Makni, K.3
Kammoun, K.4
Charfeddine, K.5
Azaeiz, H.6
Jarraya, F.7
Ben Hmida, M.8
Gubler, M.C.9
Ayadi, H.10
Hachicha, J.11
-
36
-
-
0033746069
-
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation
-
van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schroder CH, Smeets HJ: Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int 2000; 58: 1870-1875.
-
(2000)
Kidney Int
, vol.58
, pp. 1870-1875
-
-
Van Der Loop, F.T.1
Heidet, L.2
Timmer, E.D.3
Van Den Bosch, B.J.4
Leinonen, A.5
Antignac, C.6
Jefferson, J.A.7
Maxwell, A.P.8
Monnens, L.A.9
Schroder, C.H.10
Smeets, H.J.11
-
37
-
-
84859330714
-
Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations
-
Temme J, Peters F, Lange K, Pirson Y, Heidet L, Torra R, Grunfeld JP, Weber M, Licht C, Muller GA, Gross O: Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations. Kidney Int 2012; 81: 779-783.
-
(2012)
Kidney Int
, vol.81
, pp. 779-783
-
-
Temme, J.1
Peters, F.2
Lange, K.3
Pirson, Y.4
Heidet, L.5
Torra, R.6
Grunfeld, J.P.7
Weber, M.8
Licht, C.9
Muller, G.A.10
Gross, O.11
-
38
-
-
77954426406
-
Novel heterozygous COL4A3 mutation in a family with late-onset ESRD
-
Hoefele J, Lange-Sperandio B, Ruessmann D, Glockner-Pagel J, Alberer M, Benz MR, Nagel M, Weber LT: Novel heterozygous COL4A3 mutation in a family with late-onset ESRD. Pediatr Nephrol 2010; 25: 1539-1542.
-
(2010)
Pediatr Nephrol
, vol.25
, pp. 1539-1542
-
-
Hoefele, J.1
Lange-Sperandio, B.2
Ruessmann, D.3
Glockner-Pagel, J.4
Alberer, M.5
Benz, M.R.6
Nagel, M.7
Weber, L.T.8
-
39
-
-
84920806435
-
Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease
-
Lin F, Bian F, Zou J, Wu X, Shan J, Lu W, Yao Y, Jiang G, Gale DP: Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease. BMC Nephrol 2014; 15: 175.
-
(2014)
BMC Nephrol
, vol.15
, pp. 175
-
-
Lin, F.1
Bian, F.2
Zou, J.3
Wu, X.4
Shan, J.5
Lu, W.6
Yao, Y.7
Jiang, G.8
Gale, D.P.9
-
40
-
-
84926212923
-
Rare hereditary col4a3/col4a4 variants may be mistaken for familial focal segmental glomerulosclerosis
-
Malone AF, Phelan PJ, Hall G, Cetincelik U, Homstad A, Alonso AS, Jiang R, Lindsey TB, Wu G, Sparks MA, Smith SR, Webb NJ, Kalra PA, Adeyemo AA, Shaw AS, Conlon PJ, Jennette JC, Howell DN, Winn MP, Gbadegesin RA: Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. Kidney Int 2014; 86: 1253-1259.
-
(2014)
Kidney Int
, vol.86
, pp. 1253-1259
-
-
Malone, A.F.1
Phelan, P.J.2
Hall, G.3
Cetincelik, U.4
Homstad, A.5
Alonso, A.S.6
Jiang, R.7
Lindsey, T.B.8
Wu, G.9
Sparks, M.A.10
Smith, S.R.11
Webb, N.J.12
Kalra, P.A.13
Adeyemo, A.A.14
Shaw, A.S.15
Conlon, P.J.16
Jennette, J.C.17
Howell, D.N.18
Winn, M.P.19
Gbadegesin, R.A.20
more..
-
41
-
-
84922434232
-
COL4A3 mutations cause focal segmental glomerulosclerosis
-
Xie J, Wu X, Ren H, Wang W, Wang Z, Pan X, Hao X, Tong J, Ma J, Ye Z, Meng G, Zhu Y, Kiryluk K, Kong X, Hu L, Chen N: COL4A3 mutations cause focal segmental glomerulosclerosis. J Mol Cell Biol 2014; 6: 498-505.
-
(2014)
J Mol Cell Biol
, vol.6
, pp. 498-505
-
-
Xie, J.1
Wu, X.2
Ren, H.3
Wang, W.4
Wang, Z.5
Pan, X.6
Hao, X.7
Tong, J.8
Ma, J.9
Ye, Z.10
Meng, G.11
Zhu, Y.12
Kiryluk, K.13
Kong, X.14
Hu, L.15
Chen, N.16
-
42
-
-
33745817097
-
Chronic renal failure and shortened lifespan in COL4A3+/-mice: An animal model for thin basement membrane nephropathy
-
Beirowski B, Weber M, Gross O: Chronic renal failure and shortened lifespan in COL4A3+/-mice: an animal model for thin basement membrane nephropathy. J Am Soc Nephrol 2006; 17: 1986-1994.
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 1986-1994
-
-
Beirowski, B.1
Weber, M.2
Gross, O.3
-
43
-
-
84965236793
-
Hereditary familial congenital haemorrhagic nephritis
-
Alport AC: Hereditary familial congenital haemorrhagic nephritis. Br Med J 1927; 1: 504-506.
-
(1927)
Br Med J
, vol.1
, pp. 504-506
-
-
Alport, A.C.1
-
44
-
-
84874616744
-
Expert guidelines for the management of alport syndrome and thin basement membrane nephropathy
-
Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F: Expert guidelines for the management of alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol 2013; 24: 364-375.
-
(2013)
J Am Soc Nephrol
, vol.24
, pp. 364-375
-
-
Savige, J.1
Gregory, M.2
Gross, O.3
Kashtan, C.4
Ding, J.5
Flinter, F.6
-
45
-
-
0030996743
-
Alport's syndrome
-
Flinter F: Alport's syndrome. J Med Genet 1997; 34: 326-330.
-
(1997)
J Med Genet
, vol.34
, pp. 326-330
-
-
Flinter, F.1
-
46
-
-
84862284401
-
Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria
-
Voskarides K, Arsali M, Athanasiou Y, Elia A, Pierides A, Deltas C: Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria. Pediatr Nephrol 2012; 27: 675-679.
-
(2012)
Pediatr Nephrol
, vol.27
, pp. 675-679
-
-
Voskarides, K.1
Arsali, M.2
Athanasiou, Y.3
Elia, A.4
Pierides, A.5
Deltas, C.6
-
47
-
-
55649114638
-
The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy
-
Tonna S, Wang YY, Wilson D, Rigby L, Tabone T, Cotton R, Savige J: The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. Pediatr Nephrol 2008; 23: 2201-2207.
-
(2008)
Pediatr Nephrol
, vol.23
, pp. 2201-2207
-
-
Tonna, S.1
Wang, Y.Y.2
Wilson, D.3
Rigby, L.4
Tabone, T.5
Cotton, R.6
Savige, J.7
-
48
-
-
84979842393
-
Co-inheritance of functional podocin variants with heterozygous collagen IV mutations predisposes to renal failure
-
Epub ahead of print
-
Stefanou C, Pieri M, Savva I, Georgiou G, Pierides A, Voskarides K, Deltas C: Co-inheritance of functional podocin variants with heterozygous collagen IV mutations predisposes to renal failure. Nephron Exp Nephrol Genet 2015. Epub ahead of print.
-
(2015)
Nephron Exp Nephrol Genet
-
-
Stefanou, C.1
Pieri, M.2
Savva, I.3
Georgiou, G.4
Pierides, A.5
Voskarides, K.6
Deltas, C.7
-
49
-
-
84885403082
-
Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria
-
Chatterjee R, Hoffman M, Cliften P, Seshan S, Liapis H, Jain S: Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria. PLoS One 2013; 8:e76360.
-
(2013)
PLoS One
, vol.8
, pp. e76360
-
-
Chatterjee, R.1
Hoffman, M.2
Cliften, P.3
Seshan, S.4
Liapis, H.5
Jain, S.6
-
50
-
-
84876040962
-
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome
-
McCarthy HJ, Bierzynska A, Wherlock M, Ognjanovic M, Kerecuk L, Hegde S, Feather S, Gilbert RD, Krischock L, Jones C, Sinha MD, Webb NJ, Christian M, Williams MM, Marks S, Koziell A, Welsh GI, Saleem MA: Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2013; 8: 637-648.
-
(2013)
Clin J Am Soc Nephrol
, vol.8
, pp. 637-648
-
-
McCarthy, H.J.1
Bierzynska, A.2
Wherlock, M.3
Ognjanovic, M.4
Kerecuk, L.5
Hegde, S.6
Feather, S.7
Gilbert, R.D.8
Krischock, L.9
Jones, C.10
Sinha, M.D.11
Webb, N.J.12
Christian, M.13
Williams, M.M.14
Marks, S.15
Koziell, A.16
Welsh, G.I.17
Saleem, M.A.18
-
51
-
-
84923880098
-
Improving mutation screening in familial hematuric nephropathies through next generation sequencing
-
Moriniere V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, Knebelmann B, Macher MA, Noel LH, Gubler MC, Antignac C, Heidet L: Improving mutation screening in familial hematuric nephropathies through next generation sequencing. J Am Soc Nephrol 2014; 25: 2740-2751.
-
(2014)
J Am Soc Nephrol
, vol.25
, pp. 2740-2751
-
-
Moriniere, V.1
Dahan, K.2
Hilbert, P.3
Lison, M.4
Lebbah, S.5
Topa, A.6
Bole-Feysot, C.7
Pruvost, S.8
Nitschke, P.9
Plaisier, E.10
Knebelmann, B.11
Macher, M.A.12
Noel, L.H.13
Gubler, M.C.14
Antignac, C.15
Heidet, L.16
-
52
-
-
84939257181
-
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: Mutations in multiple glomerular genes may influence disease severity
-
Epub ahead of print
-
Bullich G, Trujillano D, Santin S, Ossowski S, Mendizabal S, Fraga G, Madrid A, Ariceta G, Ballarin J, Torra R, Estivill X, Ars E: Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity. Eur J Hum Genet 2014, Epub ahead of print.
-
(2014)
Eur J Hum Genet
-
-
Bullich, G.1
Trujillano, D.2
Santin, S.3
Ossowski, S.4
Mendizabal, S.5
Fraga, G.6
Madrid, A.7
Ariceta, G.8
Ballarin, J.9
Torra, R.10
Estivill, X.11
Ars, E.12
-
53
-
-
84930656052
-
Evidence of digenic inheritance in Alport syndrome
-
Mencarelli MA, Heidet L, Storey H, van Geel M, Knebelmann B, Fallerini C, Miglietti N, Antonucci MF, Cetta F, Sayer JA, van den Wijngaard A, Yau S, Mari F, Bruttini M, Ariani F, Dahan K, Smeets B, Antignac C, Flinter F, Renieri A: Evidence of digenic inheritance in Alport syndrome. J Med Genet 2015; 52: 163-174.
-
(2015)
J Med Genet
, vol.52
, pp. 163-174
-
-
Mencarelli, M.A.1
Heidet, L.2
Storey, H.3
Van Geel, M.4
Knebelmann, B.5
Fallerini, C.6
Miglietti, N.7
Antonucci, M.F.8
Cetta, F.9
Sayer, J.A.10
Van Den Wijngaard, A.11
Yau, S.12
Mari, F.13
Bruttini, M.14
Ariani, F.15
Dahan, K.16
Smeets, B.17
Antignac, C.18
Flinter, F.19
Renieri, A.20
more..
|