-
2
-
-
84906077328
-
Syndromes of thrombotic microangiopathy
-
George JN, Nester CM. Syndromes of thrombotic microangiopathy. N Engl J Med 2014;371:654-666.
-
(2014)
N Engl J Med
, vol.371
, pp. 654-666
-
-
George, J.N.1
Nester, C.M.2
-
3
-
-
85017040990
-
High-throughput genetic testing for thrombotic microangiopathies and C3 glomerulopathies
-
Bu F, Borsa NG, Jones MB, et al. High-throughput genetic testing for thrombotic microangiopathies and C3 glomerulopathies. J Am Soc Nephrol 2016;27: 1245-1253.
-
(2016)
J Am Soc Nephrol
, vol.27
, pp. 1245-1253
-
-
Bu, F.1
Borsa, N.G.2
Jones, M.B.3
-
4
-
-
77958587405
-
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype
-
Noris M, Caprioli J, Bresin E, et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol 2010;5:1844-1859.
-
(2010)
Clin J Am Soc Nephrol
, vol.5
, pp. 1844-1859
-
-
Noris, M.1
Caprioli, J.2
Bresin, E.3
-
5
-
-
70350279315
-
Atypical hemolytic-uremic syndrome
-
Noris M, Remuzzi G. Atypical hemolytic-uremic syndrome. N Engl J Med 2009;361:1676-1687.
-
(2009)
N Engl J Med
, vol.361
, pp. 1676-1687
-
-
Noris, M.1
Remuzzi, G.2
-
6
-
-
84904307918
-
Atypical hemolytic uremic syndrome
-
Greenbaum LA. Atypical hemolytic uremic syndrome. Adv Pediatr 2014;61:335-356.
-
(2014)
Adv Pediatr
, vol.61
, pp. 335-356
-
-
Greenbaum, L.A.1
-
7
-
-
84876044818
-
Genetics and outcome of atypical hemolytic uremic syndrome: A nationwide French series comparing children and adults
-
Fremeaux-Bacchi V, Fakhouri F, Garnier A, et al. Genetics and outcome of atypical hemolytic uremic syndrome: A nationwide French series comparing children and adults. Clin J Am Soc Nephrol 2013;8: 554-562.
-
(2013)
Clin J Am Soc Nephrol
, vol.8
, pp. 554-562
-
-
Fremeaux-Bacchi, V.1
Fakhouri, F.2
Garnier, A.3
-
8
-
-
84870161177
-
Familial atypical hemolytic uremic syndrome: A review of its genetic and clinical aspects
-
Bu F, Borsa N, Gianluigi A et al. Familial atypical hemolytic uremic syndrome: A review of its genetic and clinical aspects. Clin Dev Immunol 2012;2012:370426.
-
(2012)
Clin Dev Immunol
, vol.2012
, pp. 370426
-
-
Bu, F.1
Borsa, N.2
Gianluigi, A.3
-
10
-
-
84976870023
-
The expanding phenotypic spectra of kidney diseases: Insights from genetic studies
-
Stokman MF, Renkema KY, Giles RH, et al. The expanding phenotypic spectra of kidney diseases: insights from genetic studies. Nat Rev Nephrol 2016;12:472-483.
-
(2016)
Nat Rev Nephrol
, vol.12
, pp. 472-483
-
-
Stokman, M.F.1
Renkema, K.Y.2
Giles, R.H.3
-
11
-
-
84959053835
-
Exploring the genetic basis of early-onset chronic kidney disease
-
Vivante A, Hildebrandt F. Exploring the genetic basis of early-onset chronic kidney disease. Nat Rev Nephrol 2016;12:133-146.
-
(2016)
Nat Rev Nephrol
, vol.12
, pp. 133-146
-
-
Vivante, A.1
Hildebrandt, F.2
-
13
-
-
85016094796
-
Pathogenic variants in complement genes and risk of atypical hemolytic uremic syndrome relapse after eculizumab discontinuation
-
Fakhouri F, Fila M, Provot F, et al. Pathogenic variants in complement genes and risk of atypical hemolytic uremic syndrome relapse after eculizumab discontinuation. Clin J Am Soc Nephrol 2016;12:50-59.
-
(2016)
Clin J Am Soc Nephrol
, vol.12
, pp. 50-59
-
-
Fakhouri, F.1
Fila, M.2
Provot, F.3
-
14
-
-
84891753035
-
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome
-
Bu F, Maga T, Meyer NC, et al. Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome. J Am Soc Nephrol 2014;25:55-64.
-
(2014)
J Am Soc Nephrol
, vol.25
, pp. 55-64
-
-
Bu, F.1
Maga, T.2
Meyer, N.C.3
-
15
-
-
72249097911
-
Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom
-
Taylor CM, Machin S, Wigmore SJ, et al. Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. Br J Haematol 2010;148:37-47.
-
(2010)
Br J Haematol
, vol.148
, pp. 37-47
-
-
Taylor, C.M.1
Machin, S.2
Wigmore, S.J.3
-
16
-
-
84951736132
-
An update for atypical haemolytic uraemic syndrome: Diagnosis and treatment. A consensus document
-
Campistol JM, Arias M, Ariceta G, et al. An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document. Nefrologia 2015;35: 421-447.
-
(2015)
Nefrologia
, vol.35
, pp. 421-447
-
-
Campistol, J.M.1
Arias, M.2
Ariceta, G.3
-
17
-
-
84947260202
-
An international consensus approach to the management of atypical hemolytic uremic syndrome in children
-
Loirat C, Fakhouri F, Ariceta G, et al. An international consensus approach to the management of atypical hemolytic uremic syndrome in children. Pediatr Nephrol 2016;31:15-39.
-
(2016)
Pediatr Nephrol
, vol.31
, pp. 15-39
-
-
Loirat, C.1
Fakhouri, F.2
Ariceta, G.3
-
19
-
-
84944937498
-
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhoodonset increased renal echogenicity
-
Braun DA, Schueler M, Halbritter J, et al. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhoodonset increased renal echogenicity. Kidney Int 2016;89: 468-475.
-
(2016)
Kidney Int
, vol.89
, pp. 468-475
-
-
Braun, D.A.1
Schueler, M.2
Halbritter, J.3
-
20
-
-
84975784192
-
Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel
-
Mori T, Hosomichi K, Chiga M, et al. Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel. Clin Exp Nephrol 2016;21:63-75.
-
(2016)
Clin Exp Nephrol
, vol.21
, pp. 63-75
-
-
Mori, T.1
Hosomichi, K.2
Chiga, M.3
-
21
-
-
84923880098
-
Improving mutation screening in familial hematuric nephropathies through next generation sequencing
-
Moriniere V, Dahan K, Hilbert P, et al. 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
-
22
-
-
84867575832
-
Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations
-
Chatterjee R, Ramos E, Hoffman M, et al. Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations. Hum Genet 2012;131: 1725-1738.
-
(2012)
Hum Genet
, vol.131
, pp. 1725-1738
-
-
Chatterjee, R.1
Ramos, E.2
Hoffman, M.3
-
23
-
-
84889049759
-
The interface of genetics with pathology in alport nephritis
-
Liapis H, Jain S. The interface of genetics with pathology in alport nephritis. J Am Soc Nephrol 2013;24:1925-1927.
-
(2013)
J Am Soc Nephrol
, vol.24
, pp. 1925-1927
-
-
Liapis, H.1
Jain, S.2
-
24
-
-
77952682366
-
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome
-
Maga TK, Nishimura CJ, Weaver AE et al. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mutat 2010;31:E1445-E1460.
-
(2010)
Hum Mutat
, vol.31
, pp. E1445-E1460
-
-
Maga, T.K.1
Nishimura, C.J.2
Weaver, A.E.3
-
25
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
-
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-424.
-
(2015)
Genet Med
, vol.17
, pp. 405-424
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
-
26
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. e57
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
-
27
-
-
75649133611
-
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome
-
Moore I, Strain L, Pappworth I, et al. Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Blood 2010;115: 379-387.
-
(2010)
Blood
, vol.115
, pp. 379-387
-
-
Moore, I.1
Strain, L.2
Pappworth, I.3
-
28
-
-
84926314484
-
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests
-
Aziz N, Zhao Q, Bry L, et al. College of American Pathologists' laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med 2015;139:481-493.
-
(2015)
Arch Pathol Lab Med
, vol.139
, pp. 481-493
-
-
Aziz, N.1
Zhao, Q.2
Bry, L.3
-
30
-
-
84982253941
-
Analysis of protein-coding genetic variation in 60, 706 humans
-
Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60, 706 humans. Nature 2016;536:285-291.
-
(2016)
Nature
, vol.536
, pp. 285-291
-
-
Lek, M.1
Karczewski, K.J.2
Minikel, E.V.3
-
31
-
-
80054915847
-
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
-
Li H. A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics 2011;27:2987-2993.
-
(2011)
Bioinformatics
, vol.27
, pp. 2987-2993
-
-
Li, H.1
-
32
-
-
68549104404
-
The sequence alignment/map format and SAMtools
-
Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009;25:2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
-
33
-
-
78651237647
-
Identifying a high fraction of the human genome to be under selective constraint using GERP++
-
Davydov EV, Goode DL, Sirota M, et al. Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol 2010;6:e1001025.
-
(2010)
PLoS Comput Biol
, vol.6
, pp. e1001025
-
-
Davydov, E.V.1
Goode, D.L.2
Sirota, M.3
-
34
-
-
84867301515
-
Predicting the functional effect of amino acid substitutions and indels
-
Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. Predicting the functional effect of amino acid substitutions and indels. PLoS ONE 2012;7:e46688.
-
(2012)
PLoS ONE
, vol.7
, pp. e46688
-
-
Choi, Y.1
Sims, G.E.2
Murphy, S.3
Miller, J.R.4
Chan, A.P.5
-
35
-
-
0242601270
-
Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: The C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease
-
Caprioli J, Castelletti F, Bucchioni S, et al. Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: The C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. Hum Mol Genet 2003;12:3385-3395.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3385-3395
-
-
Caprioli, J.1
Castelletti, F.2
Bucchioni, S.3
-
36
-
-
84923573522
-
Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients
-
Mohlin FC, Nilsson SC, Levart TK, et al. Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients. Mol Immunol 2015;65:367-376.
-
(2015)
Mol Immunol
, vol.65
, pp. 367-376
-
-
Mohlin, F.C.1
Nilsson, S.C.2
Levart, T.K.3
-
37
-
-
0042329931
-
Haemolytic uraemic syndrome and mutations of the factor H gene: A registry-based study of German speaking countries
-
Neumann HP, Salzmann M, Bohnert-Iwan B, et al. Haemolytic uraemic syndrome and mutations of the factor H gene: A registry-based study of German speaking countries. J Med Genet 2003;40:676-681.
-
(2003)
J Med Genet
, vol.40
, pp. 676-681
-
-
Neumann, H.P.1
Salzmann, M.2
Bohnert-Iwan, B.3
-
38
-
-
0035121908
-
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome
-
Perez-Caballero D, Gonzalez-Rubio C, Gallardo ME, et al. Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. Am J Hum Genet 2001;68:478-484.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 478-484
-
-
Perez-Caballero, D.1
Gonzalez-Rubio, C.2
Gallardo, M.E.3
-
39
-
-
84856863401
-
A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome
-
Sartz L, Olin AI, Kristoffersson AC, et al. A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome. J Immunol 2012;188:2030-2037.
-
(2012)
J Immunol
, vol.188
, pp. 2030-2037
-
-
Sartz, L.1
Olin, A.I.2
Kristoffersson, A.C.3
-
40
-
-
48349086641
-
Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation
-
Le Quintrec M, Lionet A, Kamar N, et al. Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation. Am J Transplant 2008;8:1694-1701.
-
(2008)
Am J Transplant
, vol.8
, pp. 1694-1701
-
-
Le Quintrec, M.1
Lionet, A.2
Kamar, N.3
-
41
-
-
75749153964
-
Mutations in components of complement influence the outcome of factor I-associated atypical hemolytic uremic syndrome
-
Bienaime F, Dragon-Durey MA, Regnier CH, et al. Mutations in components of complement influence the outcome of factor I-associated atypical hemolytic uremic syndrome. Kidney Int 2010;77:339-349.
-
(2010)
Kidney Int
, vol.77
, pp. 339-349
-
-
Bienaime, F.1
Dragon-Durey, M.A.2
Regnier, C.H.3
-
42
-
-
84927526565
-
Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome
-
Schramm EC, Roumenina LT, Rybkine T, et al. Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome. Blood 2015;125:2359-2369.
-
(2015)
Blood
, vol.125
, pp. 2359-2369
-
-
Schramm, E.C.1
Roumenina, L.T.2
Rybkine, T.3
-
43
-
-
67651166873
-
Thrombomodulin mutations in atypical hemolytic-uremic syndrome
-
Delvaeye M, Noris M, De Vriese A, et al. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med 2009;361:345-357.
-
(2009)
N Engl J Med
, vol.361
, pp. 345-357
-
-
Delvaeye, M.1
Noris, M.2
De Vriese, A.3
-
44
-
-
84878608990
-
Recessive mutations in DGKE cause atypical hemolyticuremic syndrome
-
Lemaire M, Fremeaux-Bacchi V, Schaefer F, et al. Recessive mutations in DGKE cause atypical hemolyticuremic syndrome. Nat Genet 2013;45:531-536.
-
(2013)
Nat Genet
, vol.45
, pp. 531-536
-
-
Lemaire, M.1
Fremeaux-Bacchi, V.2
Schaefer, F.3
-
45
-
-
20544437666
-
Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome
-
Dragon-Durey MA, Loirat C, Cloarec S, et al. Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol 2005;16:555-563.
-
(2005)
J Am Soc Nephrol
, vol.16
, pp. 555-563
-
-
Dragon-Durey, M.A.1
Loirat, C.2
Cloarec, S.3
-
46
-
-
84938965200
-
The genetic basis of mendelian phenotypes: Discoveries, challenges, and opportunities
-
Chong JX, Buckingham KJ, Jhangiani SN, et al. The genetic basis of mendelian phenotypes: discoveries, challenges, and opportunities. Am J Hum Genet 2015;97:199-215.
-
(2015)
Am J Hum Genet
, vol.97
, pp. 199-215
-
-
Chong, J.X.1
Buckingham, K.J.2
Jhangiani, S.N.3
|