-
1
-
-
0037338559
-
Nail patella syndrome: A review of the phenotype aided by developmental biology
-
Sweeney E, Fryer A, Mountford R, et al. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet 2003;40:153-62.
-
(2003)
J Med Genet
, vol.40
, pp. 153-162
-
-
Sweeney, E.1
Fryer, A.2
Mountford, R.3
-
2
-
-
50549146625
-
Sheffield Medico-chirurgical society
-
Pye-Smith. Sheffield Medico-chirurgical society. Lancet 1883;2:993.
-
(1883)
Lancet
, vol.2
, pp. 993
-
-
Pye-Smith1
-
3
-
-
21044456151
-
Congenital absence or delayed development of the patella
-
Little E. Congenital absence or delayed development of the patella. Lancet 1897;2:781.
-
(1897)
Lancet
, vol.2
, pp. 781
-
-
Little, E.1
-
4
-
-
0025933248
-
Nail patella syndrome: A review of 44 orthopaedic patients
-
Guidera KJ, Satterwhite Y, Ogden JA, et al. Nail patella syndrome: a review of 44 orthopaedic patients. J Pediatr Orthop 1991;11:737-42.
-
(1991)
J Pediatr Orthop
, vol.11
, pp. 737-742
-
-
Guidera, K.J.1
Satterwhite, Y.2
Ogden, J.A.3
-
5
-
-
0001359178
-
Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns
-
Hawkins C, Smith O. Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns. Lancet 1950;1:803-8.
-
(1950)
Lancet
, vol.1
, pp. 803-808
-
-
Hawkins, C.1
Smith, O.2
-
6
-
-
0000539456
-
Genetical linkage between the ABO and nail-patella loci
-
Renwick J, Lawler S. Genetical linkage between the ABO and nail-patella loci. Ann Hum Genet 1955;19:312-31.
-
(1955)
Ann Hum Genet
, vol.19
, pp. 312-331
-
-
Renwick, J.1
Lawler, S.2
-
7
-
-
0030825171
-
Cosegregation of open-angle glaucoma and the nail-patella syndrome
-
Lichter PR, Richards JE, Downs CA, et al. Cosegregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol 1997;124:506-15.
-
(1997)
Am J Ophthalmol
, vol.124
, pp. 506-515
-
-
Lichter, P.R.1
Richards, J.E.2
Downs, C.A.3
-
8
-
-
4243378215
-
Glaucoma and nail patella syndrome (NPS) co-segregate: One gene or two? (Abstract)
-
McIntosh I, Lichter PR, Clough MV, et al. Glaucoma and nail patella syndrome (NPS) co-segregate: one gene or two? (Abstract). Am J Hum Genet 1997;61(Suppl):A13.
-
(1997)
Am J Hum Genet
, vol.61
-
-
McIntosh, I.1
Lichter, P.R.2
Clough, M.V.3
-
9
-
-
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;63:1651-8.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1651-1658
-
-
McIntosh, I.1
Dreyer, S.D.2
Clough, M.V.3
-
11
-
-
0031750061
-
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome
-
Vollrath D, Jaramillo-Babb VL, Clough MV, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet 1998;7:1091-8.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1091-1098
-
-
Vollrath, D.1
Jaramillo-Babb, V.L.2
Clough, M.V.3
-
12
-
-
0034639927
-
LMX1B transactivation and expression in nail-patella syndrome
-
Dreyer SD, Morello R, German MS, et al. LMX1B transactivation and expression in nail-patella syndrome. Hum Mol Genet 2000;9:1067-74.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1067-1074
-
-
Dreyer, S.D.1
Morello, R.2
German, M.S.3
-
13
-
-
0034697955
-
Coordinate roles for LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb
-
Kania A, Johnson R, Jessell T. Coordinate roles for LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb. Cell 2000;102:161-73.
-
(2000)
Cell
, vol.102
, pp. 161-173
-
-
Kania, A.1
Johnson, R.2
Jessell, T.3
-
14
-
-
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
-
15
-
-
0036117988
-
The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes
-
Rohr C, Prestel J, Heidet L, et al. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. J Clin Invest 2002;109:1073-82.
-
(2002)
J Clin Invest
, vol.109
, pp. 1073-1082
-
-
Rohr, C.1
Prestel, J.2
Heidet, L.3
-
16
-
-
0035134740
-
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
-
Morello R, Zhou G, Dreyer S, et al. Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat Genet 2001;27:205-8.
-
(2001)
Nat Genet
, vol.27
, pp. 205-208
-
-
Morello, R.1
Zhou, G.2
Dreyer, S.3
-
17
-
-
0036957091
-
Nail-patella syndrome. Overview on clinical and molecular findings
-
Bongers E, Gubler M, Knoers N. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol 2002;17:703-12.
-
(2002)
Pediatr Nephrol
, vol.17
, pp. 703-712
-
-
Bongers, E.1
Gubler, M.2
Knoers, N.3
-
18
-
-
0014951615
-
The nail-patella syndrome
-
Pearce RL. The nail-patella syndrome. Med J Aust 1970;1:994-7.
-
(1970)
Med J Aust
, vol.1
, pp. 994-997
-
-
Pearce, R.L.1
-
20
-
-
0030447430
-
The 'GIST' score: Ranking glaucoma for genetic studies. Glaucoma Inheritance Study of Tasmania
-
Coote MA, McCartney PJ, Wilkinson RM, et al. The 'GIST' score: ranking glaucoma for genetic studies. Glaucoma Inheritance Study of Tasmania. Ophthalmol Genet 1996;17:199-208.
-
(1996)
Ophthalmol Genet
, vol.17
, pp. 199-208
-
-
Coote, M.A.1
McCartney, P.J.2
Wilkinson, R.M.3
-
21
-
-
0031800728
-
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
-
Dreyer S, Zhou G, Baldini A, et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 1998;19:47-50.
-
(1998)
Nat Genet
, vol.19
, pp. 47-50
-
-
Dreyer, S.1
Zhou, G.2
Baldini, A.3
-
22
-
-
0029957176
-
Prevalence of open-angle glaucoma in Australia. The Blue Mountains Eye Study
-
Mitchell P, Smith W, Attebo K, et al. Prevalence of open-angle glaucoma in Australia. The Blue Mountains Eye Study. Ophthalmology 1996;103:1661-9.
-
(1996)
Ophthalmology
, vol.103
, pp. 1661-1669
-
-
Mitchell, P.1
Smith, W.2
Attebo, K.3
-
23
-
-
0031916540
-
The prevalence of glaucoma in the Melbourne Visual Impairment Project
-
Wensor MD, McCarty CA, Stanislavsky YL, et al. The prevalence of glaucoma in the Melbourne Visual Impairment Project. Ophthalmology 1998;105:733-9.
-
(1998)
Ophthalmology
, vol.105
, pp. 733-739
-
-
Wensor, M.D.1
McCarty, C.A.2
Stanislavsky, Y.L.3
-
24
-
-
3843076445
-
The human LMX1B gene: Transcription unit, promoter, and pathogenic mutations
-
Dunston JA, Hamlington JD, Zaveri J, et al. The human LMX1B gene: transcription unit, promoter, and pathogenic mutations. Genomics 2004;84:565-76.
-
(2004)
Genomics
, vol.84
, pp. 565-576
-
-
Dunston, J.A.1
Hamlington, J.D.2
Zaveri, J.3
-
25
-
-
23644447910
-
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
-
Bongers EM, Huysmans FT, Levtchenko E, et al. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet 2005;13:935-46.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 935-946
-
-
Bongers, E.M.1
Huysmans, F.T.2
Levtchenko, E.3
-
26
-
-
0033753876
-
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
-
Lehmann OJ, Ebenezer ND, Jordan T, et al. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am J Hum Genet 2000;67:1129-35.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1129-1135
-
-
Lehmann, O.J.1
Ebenezer, N.D.2
Jordan, T.3
-
27
-
-
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
-
28
-
-
0036117988
-
The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes
-
Rohr C, Prestel J, Heidet L, et al. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. J Clin Invest 2002;109:1073-82.
-
(2002)
J Clin Invest
, vol.109
, pp. 1073-1082
-
-
Rohr, C.1
Prestel, J.2
Heidet, L.3
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