-
2
-
-
0037338559
-
Nail Patella syndrome: A review of the phenotype aided by developmental biology
-
Sweeney E, Fryer A, Mountford R, Green A, McIntosh I: Nail Patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet 2003; 40: 153-162.
-
(2003)
J. Med. Genet.
, vol.40
, pp. 153-162
-
-
Sweeney, E.1
Fryer, A.2
Mountford, R.3
Green, A.4
McIntosh, I.5
-
3
-
-
0036233265
-
Insight into podocyte differentiation from the study of human genetic disease: Nail-Patella syndrome and transcriptional regulation in podocytes
-
Morello R, Lee B: Insight into podocyte differentiation from the study of human genetic disease: Nail-Patella syndrome and transcriptional regulation in podocytes. Pediatr Res 2002; 51: 551-558.
-
(2002)
Pediatr. Res.
, vol.51
, pp. 551-558
-
-
Morello, R.1
Lee, B.2
-
4
-
-
0031747153
-
Limb and kidney defects in lmx1b mice suggest an involvement of LMX1B in human Nail-Patella syndrome
-
Chen H, Lun Y, Ovchimnikov D et al: Limb and kidney defects in lmx1b mice suggest an involvement of LMX1B in human Nail-Patella syndrome. Nat Genet 1998; 19: 51-55.
-
(1998)
Nat. Genet.
, vol.19
, pp. 51-55
-
-
Chen, H.1
Lun, Y.2
Ovchimnikov, D.3
-
5
-
-
0034090670
-
LMX1B, a LIM homeodomain class transcription factor is necessary for normal development of multiple tissues in the anterior segment of the murine eye
-
Pressman CL, Chen H, Johnson RL: LMX1B, a LIM homeodomain class transcription factor is necessary for normal development of multiple tissues in the anterior segment of the murine eye. Genesis 2000; 26: 15-25.
-
(2000)
Genesis
, vol.26
, pp. 15-25
-
-
Pressman, C.L.1
Chen, H.2
Johnson, R.L.3
-
6
-
-
1542704052
-
Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in Nail-Patella syndrome
-
Marini M, Bongers EM, Cusano R et al: Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in Nail-Patella syndrome. Int J Mol Med 2003; 12: 79-82.
-
(2003)
Int. J. Mol. Med.
, vol.12
, pp. 79-82
-
-
Marini, M.1
Bongers, E.M.2
Cusano, R.3
-
7
-
-
0031732947
-
The role of Pax2 in normal and abnormal development of the urinary tract
-
Eccles MR: The role of Pax2 in normal and abnormal development of the urinary tract. Pediatr Nephrol 1998; 12: 712-720.
-
(1998)
Pediatr. Nephrol.
, vol.12
, pp. 712-720
-
-
Eccles, M.R.1
-
8
-
-
0041853845
-
Six1 is required for the early organogenesis of mammalian kidney
-
Xu P-X, Zheng W, Huang L, Maire P, Laclef C, Silvius D: Six1 is required for the early organogenesis of mammalian kidney. Development 2003; 130: 3085-3094.
-
(2003)
Development
, vol.130
, pp. 3085-3094
-
-
Xu, P.-X.1
Zheng, W.2
Huang, L.3
Maire, P.4
Laclef, C.5
Silvius, D.6
-
9
-
-
0032818483
-
Renal-coloboma syndrome: A multisystem developmental disorder caused by PAX2 mutations
-
Eccles MR, Schimmenti LA: Renal-coloboma syndrome: a multisystem developmental disorder caused by PAX2 mutations. Clin Genet 1999; 56: 1-9.
-
(1999)
Clin. Genet.
, vol.56
, pp. 1-9
-
-
Eccles, M.R.1
Schimmenti, L.A.2
-
11
-
-
0029665965
-
The PAX2 transcription factor is expressed in cystic and hyperproliferative dysplastic epithelia in human kidney malformations
-
Winyard PJD, Ridson RA, Sams VR, Dressler GR, Woolf AS: The PAX2 transcription factor is expressed in cystic and hyperproliferative dysplastic epithelia in human kidney malformations. J Clin Invest 1996; 98: 451-459.
-
(1996)
J. Clin. Invest.
, vol.98
, pp. 451-459
-
-
Winyard, P.J.D.1
Ridson, R.A.2
Sams, V.R.3
Dressler, G.R.4
Woolf, A.S.5
-
12
-
-
0036380406
-
Phenotypic change of glomerular podocytes in primary focal segmental glomerulosclerosis: Developmental paradigm?
-
Ohtaka A, Ootaka T, Sato H, Ito S: Phenotypic change of glomerular podocytes in primary focal segmental glomerulosclerosis: developmental paradigm? Nephrol Dial Transplant 2002; 17 (Suppl 9): 11-15.
-
(2002)
Nephrol. Dial. Transplant.
, vol.17
, Issue.SUPPL. 9
, pp. 11-15
-
-
Ohtaka, A.1
Ootaka, T.2
Sato, H.3
Ito, S.4
-
13
-
-
14944347438
-
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression
-
Dunston JA, Reimschisel T, Ding YQ et al: A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. Eur J Hum Genet 2005; 13: 330-335.
-
(2005)
Eur. J. Hum. Genet.
, vol.13
, pp. 330-335
-
-
Dunston, J.A.1
Reimschisel, T.2
Ding, Y.Q.3
-
14
-
-
0038051417
-
Midbrain dopaminergic neurons: Determination of their developmental fate by transcription factors
-
Simon HH, Bhatt L, Gherbassi D, Sgado P, Alberi L: Midbrain dopaminergic neurons: determination of their developmental fate by transcription factors. Ann NY Acad Sci 2003; 991: 36-47.
-
(2003)
Ann. NY Acad. Sci.
, vol.991
, pp. 36-47
-
-
Simon, H.H.1
Bhatt, L.2
Gherbassi, D.3
Sgado, P.4
Alberi, L.5
-
15
-
-
11144353684
-
Tlx3 and Tlx1 are postmitotic selector genes determining glutamatergic over GABAergic cell fates
-
Cheng L, Arata A, Mizuguchi R et al: Tlx3 and Tlx1 are postmitotic selector genes determining glutamatergic over GABAergic cell fates. Nat Neurosci 2004; 7: 510-517.
-
(2004)
Nat. Neurosci.
, vol.7
, pp. 510-517
-
-
Cheng, L.1
Arata, A.2
Mizuguchi, R.3
-
16
-
-
0035933539
-
Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors
-
Stamataki D, Kastrinaki M, Mankoo BS, Pachnis V, Karagogeos D: Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors. FEBS Lett 2001; 499: 274-278.
-
(2001)
FEBS Lett.
, vol.499
, pp. 274-278
-
-
Stamataki, D.1
Kastrinaki, M.2
Mankoo, B.S.3
Pachnis, V.4
Karagogeos, D.5
-
17
-
-
2542620650
-
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
-
Rut 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.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 8090-8095
-
-
Rut, R.G.1
Xu, P.X.2
Silvius, D.3
-
18
-
-
0032471924
-
Mutation analysis of LMX1B gene in Nail-Patella syndrome patients
-
McIntosh I, Dreyer SD, Clough MV et al: Mutation analysis of LMX1B gene in Nail-Patella syndrome patients. Am J Hum Genet 1998; 63: 1651-1658.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1651-1658
-
-
McIntosh, I.1
Dreyer, S.D.2
Clough, M.V.3
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