-
1
-
-
0036149194
-
Toward an etiological classification of developmental disorders of the kidney and upper urinary tract
-
DOI 10.1046/j.1523-1755.2002.00086.x
-
Pohl M, Bhatnagar V, Mendosa A, et al. Toward an etiological classification of developmental disorders of the kidney and upper urinary tract. Kidney Int 2002; 61: 10-19. (Pubitemid 34075126)
-
(2002)
Kidney International
, vol.61
, Issue.1
, pp. 10-19
-
-
Pohl, M.1
Bhatnagar, V.2
Mendoza, S.A.3
Nigam, S.K.4
-
2
-
-
0033860405
-
A molecular and genetic view of human renal and urinary tract malformations
-
DOI 10.1046/j.1523-1755.2000.00196.x
-
Woolf AS. A molecular and genetic view of human renal and urinary tract malformations. Kidney Int 2000; 58: 500-512. (Pubitemid 30619999)
-
(2000)
Kidney International
, vol.58
, Issue.2
, pp. 500-512
-
-
Woolf, A.S.1
-
4
-
-
9844262802
-
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
-
Abdelhak S, Kalatzis V, Heilig R, et al. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 1997; 6: 2247-2255. (Pubitemid 27501076)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.13
, pp. 2247-2255
-
-
Abdelhak, S.1
Kalatzis, V.2
Heilig, R.3
Compain, S.4
Samson, D.5
Vincent, C.6
Levi-Acobas, F.7
Cruaud, C.8
Le Merrer, M.9
Mathieu, M.10
Konig, R.11
Vigneron, J.12
Weissenbach, J.13
Petit, C.14
Weil, D.15
-
5
-
-
34147151136
-
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux
-
DOI 10.1086/512735
-
Lu W, van Eerde AM, Fan X, et al. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet 2007; 80: 616-632. (Pubitemid 46564400)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.4
, pp. 616-632
-
-
Lu, W.1
Van Eerde, A.M.2
Fan, X.3
Quintero-Rivera, F.4
Kulkarni, S.5
Ferguson, H.6
Kim, H.-G.7
Fan, Y.8
Xi, Q.9
Li, Q.-G.10
Sanlaville, D.11
Andrews, W.12
Sundaresan, V.13
Bi, W.14
Yan, J.15
Giltay, J.C.16
Wijmenga, C.17
De Jong, T.P.V.M.18
Feather, S.A.19
Woolf, A.S.20
Rao, Y.21
Lupski, J.R.22
Eccles, M.R.23
Quade, B.J.24
Gusella, J.F.25
Morton, C.C.26
Maas, R.L.27
more..
-
6
-
-
2542620650
-
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
-
DOI 10.1073/pnas.0308475101
-
Ruf RG, Xu PX, Silvius D, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci USA 2004; 101: 8090-8095. (Pubitemid 38698059)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.21
, pp. 8090-8095
-
-
Ruf, R.G.1
Xu, P.-X.2
Silvius, D.3
Otto, E.A.4
Beekmann, F.5
Muerb, U.T.6
Kumar, S.7
Neuhaus, T.J.8
Kemper, M.J.9
Raymond Jr., R.M.10
Brophya, P.D.11
Berkman, J.12
Gattas, M.13
Hyland, V.14
Ruf, E.-M.15
Schwartz, C.16
Chang, E.H.17
Smith, R.J.H.18
Stratakis, C.A.19
Weil, D.20
Petit, C.21
Hildebrandt, F.22
more..
-
7
-
-
44049097197
-
SIX2 and BMP4 mutations associate with anomalous kidney development
-
Weber S, Taylor JC, Winyard P, et al. SIX2 and BMP4 mutations associate with anomalous kidney development. J Am Soc Nephrol 2008; 19: 891-903.
-
(2008)
J Am Soc Nephrol
, vol.19
, pp. 891-903
-
-
Weber, S.1
Taylor, J.C.2
Winyard, P.3
-
8
-
-
0036190135
-
Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT
-
DOI 10.1046/j.1523-1755.2002.00188.x
-
Ichikawa I, Kuwayama F, Pope JCt, et al. Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT. Kidney Int 2002; 61: 889-898. (Pubitemid 34175457)
-
(2002)
Kidney International
, vol.61
, Issue.3
, pp. 889-898
-
-
Ichikawa, I.1
Kuwayama, F.2
Pope IV, J.C.3
Stephens, F.D.4
Miyazaki, Y.5
-
9
-
-
44449157662
-
Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations
-
DOI 10.1093/ndt/gfm685
-
Hoskins BE, Cramer II CH, Tasic V, et al. Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations. Nephrol Dial Transplant 2008; 23: 777-779. (Pubitemid 351767637)
-
(2008)
Nephrology Dialysis Transplantation
, vol.23
, Issue.2
, pp. 777-779
-
-
Hoskins, B.E.1
Cramer II, C.H.2
Tasic, V.3
Kehinde, E.O.4
Ashraf, S.5
Bogdanovic, R.6
Hoefele, J.7
Pohl, M.8
Hildebrandt, F.9
-
10
-
-
79551634466
-
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
-
Otto EA, Ramaswami G, Janssen S, et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet 2010.
-
(2010)
J Med Genet
-
-
Otto, E.A.1
Ramaswami, G.2
Janssen, S.3
-
11
-
-
0037872680
-
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
-
DOI 10.1038/ng1142
-
McGregor L, Makela V, Darling SM, et al. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 2003; 34: 203-208. (Pubitemid 36666933)
-
(2003)
Nature Genetics
, vol.34
, Issue.2
, pp. 203-208
-
-
McGregor, L.1
Makela, V.2
Darling, S.M.3
Vrontou, S.4
Chalepakis, G.5
Roberts, C.6
Smart, N.7
Rutland, P.8
Prescott, N.9
Hopkins, J.10
Bentley, E.11
Shaw, A.12
Roberts, E.13
Mueller, R.14
Jadeja, S.15
Philip, N.16
Nelson, J.17
Francannet, C.18
Perez-Aytes, A.19
Megarbane, A.20
Kerr, B.21
Wainwright, B.22
Woolf, A.S.23
Winter, R.M.24
Scambler, P.J.25
more..
-
12
-
-
0038617716
-
Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice
-
DOI 10.1038/ng1168
-
Vrontou S, Petrou P, Meyer BI, et al. Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nat Genet 2003; 34: 209-214. (Pubitemid 36666934)
-
(2003)
Nature Genetics
, vol.34
, Issue.2
, pp. 209-214
-
-
Vrontou, S.1
Petrou, P.2
Meyer, B.I.3
Galanopoulos, V.K.4
Imai, K.5
Yanagi, M.6
Chowdhury, K.7
Scambler, P.J.8
Chalepakis, G.9
-
13
-
-
57049160305
-
Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli
-
DOI 10.1093/hmg/ddn297
-
Pitera JE, Scambler PJ, Woolf AS. Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli. Hum Mol Genet 2008; 17: 3953-3964. (Pubitemid 352762856)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.24
, pp. 3953-3964
-
-
Pitera, J.E.1
Scambler, P.J.2
Woolf, A.S.3
-
14
-
-
0036712853
-
Fraser syndrome and cryptophthalmos: Review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
-
Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet 2002; 39: 623-633. (Pubitemid 35005830)
-
(2002)
Journal of Medical Genetics
, vol.39
, Issue.9
, pp. 623-633
-
-
Slavotinek, A.M.1
Tifft, C.J.2
-
15
-
-
51449090282
-
Molecular study of 33 families with Fraser syndrome new data and mutation review
-
van Haelst MM, Maiburg M, Baujat G, et al. Molecular study of 33 families with Fraser syndrome new data and mutation review. Am J Med Genet A 2008; 146A: 2252-2257.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 2252-2257
-
-
Van Haelst, M.M.1
Maiburg, M.2
Baujat, G.3
-
16
-
-
37249027239
-
Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria
-
DOI 10.1002/ajmg.a.31951
-
van Haelst MM, Scambler PJ, Hennekam RC. Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet A 2007; 143A: 3194-3203. (Pubitemid 350274836)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.24
, pp. 3194-3203
-
-
Van Haelst, M.M.1
Scambler, P.J.2
Hennekam, R.C.M.3
Al-Gazali, L.4
Aytes, P.5
Bonato, A.6
Chitayat, D.7
Dobbie, A.8
Donnai, D.9
Elmslie, F.10
Ferreira, J.11
Francannet, C.12
Gilbert, B.13
Graham, J.14
Hennekam, R.15
Holder, S.16
Kerr, B.17
Maas, S.18
Megarbane, A.19
Meinecke, P.20
Melancon, S.21
Midro, A.22
Nelson, J.23
Philip, N.24
Reardon, W.25
Reutter, H.26
Santos, H.27
Scambler, P.28
Thauvin, C.29
Todos, E.30
Tolmie, J.31
Van Essen, T.32
Van Haelst, M.33
Wilkie, A.34
Wilson, L.35
more..
-
17
-
-
0031963876
-
Mutations in the SALL1 putative transcription factor gene cause Townes- Brocks syndrome
-
DOI 10.1038/ng0198-81
-
Kohlhase J, Wischermann A, Reichenbach H, et al. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 1998; 18: 81-83. (Pubitemid 28027886)
-
(1998)
Nature Genetics
, vol.18
, Issue.1
, pp. 81-83
-
-
Kohlhase, J.1
Wischermann, A.2
Reichenbach, H.3
Froster, U.4
Engel, W.5
-
18
-
-
0041878458
-
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects
-
DOI 10.1093/hmg/ddg233
-
Kiefer SM, Ohlemiller KK, Yang J, et al. Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. Hum Mol Genet 2003; 12: 2221-2227. (Pubitemid 37098991)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.17
, pp. 2221-2227
-
-
McLeskey Kiefer, S.1
Ohlemiller, K.K.2
Yang, J.3
McDill, B.W.4
Kohlhase, J.5
Rauchman, M.6
-
19
-
-
0034840126
-
Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development
-
Nishinakamura R, Matsumoto Y, Nakao K, et al. Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development. Development 2001; 128: 3105-3115. (Pubitemid 32825755)
-
(2001)
Development
, vol.128
, Issue.16
, pp. 3105-3115
-
-
Nishinakamura, R.1
Matsumoto, Y.2
Nakao, K.3
Nakamura, K.4
Sato, A.5
Copeland, N.G.6
Gilbert, D.J.7
Jenkins, N.A.8
Scully, S.9
Lacey, D.L.10
Katsuki, M.11
Asashima, M.12
Yokota, T.13
-
20
-
-
0032842838
-
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia
-
DOI 10.1038/12722
-
Xu PX, Adams J, Peters H, et al. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet 1999; 23: 113-117. (Pubitemid 29418800)
-
(1999)
Nature Genetics
, vol.23
, Issue.1
, pp. 113-117
-
-
Xu, P.-X.1
Adams, J.2
Peters, H.3
Brown, M.C.4
Heaney, S.5
Maas, R.6
-
21
-
-
20944448235
-
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs
-
DOI 10.1038/ng1549
-
Jadeja S, Smyth I, Pitera JE, et al. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet 2005; 37: 520-525. (Pubitemid 40617281)
-
(2005)
Nature Genetics
, vol.37
, Issue.5
, pp. 520-525
-
-
Jadeja, S.1
Smyth, I.2
Pitera, J.E.3
Taylor, M.S.4
Van Haelst, M.5
Bentley, E.6
McGregor, L.7
Hopkins, J.8
Chalepakis, G.9
Philip, N.10
Aytes, A.P.11
Watt, F.M.12
Darling, S.M.13
Jackson, I.14
Woolf, A.S.15
Scambler, P.J.16
-
22
-
-
38849096515
-
Fraser syndrome due to homozygosity for a splice site mutation of FREM2 [6]
-
DOI 10.1002/ajmg.a.32091
-
Shafeghati Y, Kniepert A, Vakili G, et al. Fraser syndrome due to homozygosity for a splice site mutation of FREM2. Am J Med Genet A 2008; 146A: 529-531. (Pubitemid 351206832)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.4
, pp. 529-531
-
-
Shafeghati, Y.1
Kniepert, A.2
Vakili, G.3
Zenker, M.4
-
23
-
-
84855201997
-
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals
-
Janssen S, Ramaswami G, Davis EE, et al. Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet 2010.
-
(2010)
Hum Genet
-
-
Janssen, S.1
Ramaswami, G.2
Davis, E.E.3
-
24
-
-
79551634466
-
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
-
Otto EA, Ramaswami G, Janssen S, et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet 2011; 48: 105-116.
-
(2011)
J Med Genet
, vol.48
, pp. 105-116
-
-
Otto, E.A.1
Ramaswami, G.2
Janssen, S.3
-
25
-
-
77956792326
-
Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: A paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology
-
Voelkerding KV, Dames S, Durtschi JD. Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn 2010; 12: 539-551.
-
(2010)
J Mol Diagn
, vol.12
, pp. 539-551
-
-
Voelkerding, K.V.1
Dames, S.2
Durtschi, J.D.3
-
26
-
-
0036713510
-
Human non-synonymous SNPs: Server and survey
-
Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30: 3894-3900. (Pubitemid 35012462)
-
(2002)
Nucleic Acids Research
, vol.30
, Issue.17
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
|