-
1
-
-
80052468931
-
UK Renal Registry 13th Annual Report (December 2010): Chapter 5: Demography of the UK paediatric renal replacement therapy population in 2009
-
Sinha MD, Castledine C, van Schalkwyk D, Hussain F, Lewis M, Inward C: UK Renal Registry 13th Annual Report (December 2010): Chapter 5: Demography of the UK paediatric renal replacement therapy population in 2009. Nephron Clin Pract 119 [Suppl 2]: c97-c106, 2011
-
(2011)
Nephron Clin Pract
, vol.119
, Issue.SUPPL 2
-
-
Sinha, M.D.1
Castledine, C.2
van Schalkwyk, D.3
Hussain, F.4
Lewis, M.5
Inward, C.6
-
2
-
-
84861139244
-
Genetic causes of focal segmental glomerulosclerosis: Implications for clinical practice
-
Rood IM, Deegens JK, Wetzels JF: Genetic causes of focal segmental glomerulosclerosis: Implications for clinical practice. Nephrol Dial Transplant 27: 882-890, 2012
-
(2012)
Nephrol Dial Transplant
, vol.27
, pp. 882-890
-
-
Rood, I.M.1
Deegens, J.K.2
Wetzels, J.F.3
-
3
-
-
78149355246
-
Immunosuppression and renal outcome in congenital and pediatric steroidresistant nephrotic syndrome
-
Büscher AK, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Bröking E, Wingen AM, John U, Kemper M, Monnens L, Hoyer PF, Weber S, Konrad M: Immunosuppression and renal outcome in congenital and pediatric steroidresistant nephrotic syndrome. Clin J Am Soc Nephrol 5: 2075- 2084, 2010
-
(2010)
Clin J Am Soc Nephrol
, vol.5
, pp. 2075-2084
-
-
Büscher, A.K.1
Kranz, B.2
Büscher, R.3
Hildebrandt, F.4
Dworniczak, B.5
Pennekamp, P.6
Kuwertz-Bröking, E.7
Wingen, A.M.8
John, U.9
Kemper, M.10
Monnens, L.11
Hoyer, P.F.12
Weber, S.13
Konrad, M.14
-
4
-
-
70350671733
-
Automated inference of molecular mechanisms of disease from amino acid substitutions
-
Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, Mooney SD, Radivojac P: Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 25: 2744-2750, 2009
-
(2009)
Bioinformatics
, vol.25
, pp. 2744-2750
-
-
Li, B.1
Krishnan, V.G.2
Mort, M.E.3
Xin, F.4
Kamati, K.K.5
Cooper, D.N.6
Mooney, S.D.7
Radivojac, P.8
-
5
-
-
0036713510
-
Human non-synonymous SNPs: Server and survey
-
Ramensky V, Bork P, Sunyaev S: Human non-synonymous SNPs: Server and survey. Nucleic Acids Res 30: 3894-3900, 2002
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
6
-
-
79952764520
-
Performance of mutation pathogenicity prediction methods on missense variants
-
Thusberg J, Olatubosun A, Vihinen M: Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 32: 358-368, 2011
-
(2011)
Hum Mutat
, vol.32
, pp. 358-368
-
-
Thusberg, J.1
Olatubosun, A.2
Vihinen, M.3
-
7
-
-
77955405475
-
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
-
Laren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F: Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics 26: 2069-2070, 2010
-
(2010)
Bioinformatics
, vol.26
, pp. 2069-2070
-
-
Laren, W.1
Pritchard, B.2
Rios, D.3
Chen, Y.4
Flicek, P.5
Cunningham, F.6
-
8
-
-
77956259962
-
Gesselschaft fü r Paediatrische Nephrologie (GPN) Study Group: Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)
-
Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, Bockenhauer D, Vlangos CN, Moorani KN, Neuhaus TJ, Kari JA, MacDonald J, Saisawat P, Ashraf S, Ovunc B, Zenker M, Hildebrandt F; Gesselschaft fü r Paediatrische Nephrologie (GPN) Study Group: Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant 25: 2970-2976, 2010
-
(2010)
Nephrol Dial Transplant
, vol.25
, pp. 2970-2976
-
-
Schoeb, D.S.1
Chernin, G.2
Heeringa, S.F.3
Matejas, V.4
Held, S.5
Vega-Warner, V.6
Bockenhauer, D.7
Vlangos, C.N.8
Moorani, K.N.9
Neuhaus, T.J.10
Kari, J.A.11
Macdonald, J.12
Saisawat, P.13
Ashraf, S.14
Ovunc, B.15
Zenker, M.16
Hildebrandt, F.17
-
9
-
-
0033366679
-
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations
-
Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, Antignac C K, Kashtan CE, Homberg C, Olsen A, Kestilä M, Tryggvason K: Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am J Hum Genet 64: 51-61, 1999
-
(1999)
Am J Hum Genet
, vol.64
, pp. 51-61
-
-
Lenkkeri, U.1
Männikkö, M.2
McCready, P.3
Lamerdin, J.4
Gribouval, O.5
Niaudet, P.M.6
Antignac, C.K.7
Kashtan, C.E.8
Homberg, C.9
Olsen, A.10
Kestilä, M.11
Tryggvason, K.12
-
10
-
-
0037084569
-
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration
-
Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P: Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 11: 379-388, 2002
-
(2002)
Hum Mol Genet
, vol.11
, pp. 379-388
-
-
Koziell, A.1
Grech, V.2
Hussain, S.3
Lee, G.4
Lenkkeri, U.5
Tryggvason, K.6
Scambler, P.7
-
11
-
-
2342631919
-
Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS)
-
Lahdenkari AT, Kestilä M, Holmberg C, Koskimies O, Jalanko H: Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Kidney Int 65: 1856-1863, 2004
-
(2004)
Kidney Int
, vol.65
, pp. 1856-1863
-
-
Lahdenkari, A.T.1
Kestilä, M.2
Holmberg, C.3
Koskimies, O.4
Jalanko, H.5
-
12
-
-
0036151614
-
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome
-
Karle SM, Uetz B, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A: Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol 13: 388-393, 2002
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 388-393
-
-
Karle, S.M.1
Uetz, B.2
Ronner, V.3
Glaeser, L.4
Hildebrandt, F.5
Fuchshuber, A.6
-
13
-
-
0034034757
-
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
-
Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24: 349-354, 2000
-
(2000)
Nat Genet
, vol.24
, pp. 349-354
-
-
Boute, N.1
Gribouval, O.2
Roselli, S.3
Benessy, F.4
Lee, H.5
Fuchshuber, A.6
Dahan, K.7
Gubler, M.C.8
Niaudet, P.9
Antignac, C.10
-
14
-
-
62349123713
-
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associatedwith the NPHS2 R229Qvariant
-
Machuca E, Hummel A, Nevo F, Dantal J, Martinez F, Al-Sabban E, Baudouin V, Abel L, Grünfeld JP, Antignac C: Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associatedwith the NPHS2 R229Qvariant. Kidney Int 75: 727-735, 2009
-
(2009)
Kidney Int
, vol.75
, pp. 727-735
-
-
Machuca, E.1
Hummel, A.2
Nevo, F.3
Dantal, J.4
Martinez, F.5
Al-Sabban, E.6
Baudouin, V.7
Abel, L.8
Grünfeld, J.P.9
Antignac, C.10
-
15
-
-
34147096001
-
Arbeitsgemeinschaft fü r Paediatrische Nephrologie StudyGroup: Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)
-
Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F; Arbeitsgemeinschaft fü r Paediatrische Nephrologie StudyGroup: Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119: e907-e919, 2007
-
(2007)
Pediatrics
, vol.119
-
-
Hinkes, B.G.1
Mucha, B.2
Vlangos, C.N.3
Gbadegesin, R.4
Liu, J.5
Hasselbacher, K.6
Hangan, D.7
Ozaltin, F.8
Zenker, M.9
Hildebrandt, F.10
-
16
-
-
84885482905
-
Early onset and intermediate progression of steroid-resistant nephrotic syndrome associated with non-neutral p.R299Q polymorphism and novel c.1032delT podocin mutation
-
Balasz-Chmielewska IBH, Drozdz D, Gacka E, Firszt-Adamczyk A, Jarmolinski T, Ksiazek J, Kuzma-Mroczkowska E, Medynska A, Silska M, Szczepanska M, Tkaczyk M, Wasilewska A, Zurowska A: Early onset and intermediate progression of steroid-resistant nephrotic syndrome associated with non-neutral p.R299Q polymorphism and novel c.1032delT podocin mutation. Pediatr Nephrol 27: 1722-1723A, 2012
-
(2012)
Pediatr Nephrol
, vol.27
-
-
Balasz-Chmielewska, I.B.H.1
Drozdz, D.2
Gacka, E.3
Firszt-Adamczyk, A.4
Jarmolinski, T.5
Ksiazek, J.6
Kuzma-Mroczkowska, E.7
Medynska, A.8
Silska, M.9
Szczepanska, M.10
Tkaczyk, M.11
Wasilewska, A.12
Zurowska, A.13
-
17
-
-
77956123797
-
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome
-
Boyer O, Benoit G, Gribouval O, Nevo F, Pawtowski A, Bilge I, Bircan Z, Deschênes G, Guay-Woodford LM, Hall M, Macher MA, Soulami K, Stefanidis CJ, Weiss R, Loirat C, Gubler MC, Antignac C: Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome. J MedGenet 47: 445-452, 2010
-
(2010)
J MedGenet
, vol.47
, pp. 445-452
-
-
Boyer, O.1
Benoit, G.2
Gribouval, O.3
Nevo, F.4
Pawtowski, A.5
Bilge, I.6
Bircan, Z.7
Deschênes, G.8
Guay-Woodford, L.M.9
Hall, M.10
Macher, M.A.11
Soulami, K.12
Stefanidis, C.J.13
Weiss, R.14
Loirat, C.15
Gubler, M.C.16
Antignac, C.17
-
18
-
-
0036777420
-
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome
-
Dagher H, Yan Wang Y, Fassett R, Savige J: Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome. HumMutat 20: 321-322, 2002
-
(2002)
HumMutat
, vol.20
, pp. 321-322
-
-
Dagher, H.1
Yan, W.Y.2
Fassett, R.3
Savige, J.4
-
19
-
-
34250668197
-
COQ2 nephropathy: A newly described inherited mitochondriopathy with primary renal involvement
-
Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F: COQ2 nephropathy: A newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol 18: 2773- 2780, 2007
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 2773-2780
-
-
Diomedi-Camassei, F.1
Di Giandomenico, S.2
Santorelli, F.M.3
Caridi, G.4
Piemonte, F.5
Montini, G.6
Ghiggeri, G.M.7
Murer, L.8
Barisoni, L.9
Pastore, A.10
Muda, A.O.11
Valente, M.L.12
Bertini, E.13
Emma, F.14
-
20
-
-
79551656622
-
Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis
-
Boyer O, Benoit G, Gribouval O, Nevo F, Tête 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 22: 239-245, 2011
-
(2011)
J Am Soc Nephrol
, vol.22
, pp. 239-245
-
-
Boyer, O.1
Benoit, G.2
Gribouval, O.3
Nevo, F.4
Tête, 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..
-
21
-
-
33748745132
-
INF2 is a WASP homology 2motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization
-
Chhabra ES, Higgs HN: INF2 is a WASP homology 2motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization. J Biol Chem 281: 26754-26767, 2006
-
(2006)
J Biol Chem
, vol.281
, pp. 26754-26767
-
-
Chhabra, E.S.1
Higgs, H.N.2
-
22
-
-
79961172239
-
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations
-
Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B: Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations. J Inherit Metab Dis 34: 929-939, 2011
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 929-939
-
-
Vega, A.I.1
Pérez-Cerdá, C.2
Abia, D.3
Gámez, A.4
Briones, P.5
Artuch, R.6
Desviat, L.R.7
Ugarte, M.8
Pérez, B.9
-
23
-
-
0037910378
-
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness
-
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A: MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 82: 203-215, 2003
-
(2003)
Medicine (Baltimore)
, vol.82
, pp. 203-215
-
-
Seri, M.1
Pecci, A.2
Di Bari, F.3
Cusano, R.4
Savino, M.5
Panza, E.6
Nigro, A.7
Noris, P.8
Gangarossa, S.9
Rocca, B.10
Gresele, P.11
Bizzaro, N.12
Malatesta, P.13
Koivisto, P.A.14
Longo, I.15
Musso, R.16
Pecoraro, C.17
Iolascon, A.18
Magrini, U.19
Rodriguez, S.J.20
Renieri, A.21
Ghiggeri, G.M.22
Ravazzolo, R.23
Balduini, C.L.24
Savoia, A.25
more..
-
24
-
-
33847186637
-
Schimke immunoosseous dysplasia: Suggestions of genetic diversity
-
Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lücke T, Alpay H, André JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, Cancrini C, Cochat P, Cockfield S, Collard L, Cordeiro I, Cormier-Daire V, Cransberg K, Cutka K, Deschenes G, Ehrich JH, Fründ S, Georgaki H, Guillen-Navarro E, Hinkelmann B, Kanariou M, Kasap B, Kilic SS, Lama G, Lamfers P, Loirat C, Majore S, Milford D, Morin D, Ozdemir N, Pontz BF, Proesmans W, Psoni S, Reichenbach H, Reif S, Rusu C, Saraiva JM, Sakallioglu O, Schmidt B, Shoemaker L, Sigaudy S, Smith G, Sotsiou F, Stajic N, Stein A, Stray-Pedersen A, Taha D, Taque S, Tizard J, Tsimaratos M, Wong NA, Boerkoel CF: Schimke immunoosseous dysplasia: Suggestions of genetic diversity. Hum Mutat 28: 273-283, 2007
-
(2007)
Hum Mutat
, vol.28
, pp. 273-283
-
-
Clewing, J.M.1
Fryssira, H.2
Goodman, D.3
Smithson, S.F.4
Sloan, E.A.5
Lou, S.6
Huang, Y.7
Choi, K.8
Lücke, T.9
Alpay, H.10
André, J.L.11
Asakura, Y.12
Biebuyck-Gouge, N.13
Bogdanovic, R.14
Bonneau, D.15
Cancrini, C.16
Cochat, P.17
Cockfield, S.18
Collard, L.19
Cordeiro, I.20
Cormier-Daire, V.21
Cransberg, K.22
Cutka, K.23
Deschenes, G.24
Ehrich, J.H.25
Fründ, S.26
Georgaki, H.27
Guillen-Navarro, E.28
Hinkelmann, B.29
Kanariou, M.30
Kasap, B.31
Kilic, S.S.32
Lama, G.33
Lamfers, P.34
Loirat, C.35
Majore, S.36
Milford, D.37
Morin, D.38
Ozdemir, N.39
Pontz, B.F.40
Proesmans, W.41
Psoni, S.42
Reichenbach, H.43
Reif, S.44
Rusu, C.45
Saraiva, J.M.46
Sakallioglu, O.47
Schmidt, B.48
Shoemaker, L.49
Sigaudy, S.50
Smith, G.51
Sotsiou, F.52
Stajic, N.53
Stein, A.54
Stray-Pedersen, A.55
Taha, D.56
Taque, S.57
Tizard, J.58
Tsimaratos, M.59
Wong, N.A.60
Boerkoel, C.F.61
more..
-
25
-
-
52449107801
-
Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis
-
Löwik M, Levtchenko E, Westra D, Groenen P, Steenbergen E, Weening J, Lilien M, Monnens L, van den Heuvel L: Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. Nephrol Dial Transplant 23: 3146-3151, 2008
-
(2008)
Nephrol Dial Transplant
, vol.23
, pp. 3146-3151
-
-
Löwik, M.1
Levtchenko, E.2
Westra, D.3
Groenen, P.4
Steenbergen, E.5
Weening, J.6
Lilien, M.7
Monnens, L.8
van den Heuvel, L.9
-
26
-
-
51449100567
-
Vertical transmission of amutation in exon 1 of the WT1 gene: Lessons for genetic counseling
-
Regev M, Kirk R, Mashevich M, Bistritzer Z, Reish O: Vertical transmission of amutation in exon 1 of the WT1 gene: Lessons for genetic counseling. Am J Med Genet A 146A: 2332-2336, 2008
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 2332-2336
-
-
Regev, M.1
Kirk, R.2
Mashevich, M.3
Bistritzer, Z.4
Reish, O.5
-
27
-
-
11244305880
-
AWT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome
-
Little S, Hanks S, King-Underwood L, Picton S, Cullinane C, Rapley E, Rahman N, Pritchard-Jones K: AWT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome. Pediatr Nephrol 20: 81-85, 2005
-
(2005)
Pediatr Nephrol
, vol.20
, pp. 81-85
-
-
Little, S.1
Hanks, S.2
King-Underwood, L.3
Picton, S.4
Cullinane, C.5
Rapley, E.6
Rahman, N.7
Pritchard-Jones, K.8
-
28
-
-
80053410497
-
Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis
-
Akilesh S, Suleiman H, Yu H, Stander MC, Lavin P, Gbadegesin R, Antignac C, Pollak M, Kopp JB, Winn MP, Shaw AS: Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. J Clin Invest 121: 4127-4137, 2011
-
(2011)
J Clin Invest
, vol.121
, pp. 4127-4137
-
-
Akilesh, S.1
Suleiman, H.2
Yu, H.3
Stander, M.C.4
Lavin, P.5
Gbadegesin, R.6
Antignac, C.7
Pollak, M.8
Kopp, J.B.9
Winn, M.P.10
Shaw, A.S.11
-
29
-
-
79960877647
-
PodoNet Consortium: MYO1E mutations and childhood familial focal segmental glomerulosclerosis
-
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. NEngl J Med 365: 295-306, 2011
-
(2011)
NEngl 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..
-
30
-
-
80051544854
-
PodoNet Consortium: Disruption of PTPRO causes childhood-onset nephrotic syndrome
-
Ozaltin F, Ibsirlioglu T, Taskiran EZ, Baydar DE, Kaymaz F, Buyukcelik M, Kilic BD, Balat A, Iatropoulos P, Asan E, Akarsu NA, Schaefer F, Yilmaz E, Bakkaloglu A; PodoNet Consortium: Disruption of PTPRO causes childhood-onset nephrotic syndrome. Am J Hum Genet 89: 139-147, 2011
-
(2011)
Am J Hum Genet
, vol.89
, pp. 139-147
-
-
Ozaltin, F.1
Ibsirlioglu, T.2
Taskiran, E.Z.3
Baydar, D.E.4
Kaymaz, F.5
Buyukcelik, M.6
Kilic, B.D.7
Balat, A.8
Iatropoulos, P.9
Asan, E.10
Akarsu, N.A.11
Schaefer, F.12
Yilmaz, E.13
Bakkaloglu, A.14
-
31
-
-
77955059918
-
Genetic diagnosis of familial breast cancer using clonal sequencing
-
Morgan JE, Carr IM, Sheridan E, Chu CE, Hayward B, Camm N, Lindsay HA, Mattocks CJ, Markham AF, Bonthron DT, Taylor GR: Genetic diagnosis of familial breast cancer using clonal sequencing. Hum Mutat 31: 484-491, 2010
-
(2010)
Hum Mutat
, vol.31
, pp. 484-491
-
-
Morgan, J.E.1
Carr, I.M.2
Sheridan, E.3
Chu, C.E.4
Hayward, B.5
Camm, N.6
Lindsay, H.A.7
Mattocks, C.J.8
Markham, A.F.9
Bonthron, D.T.10
Taylor, G.R.11
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