-
1
-
-
0020971487
-
Axenfeld-Rieger syndrome: A theory of mechanism and distinctions from the iridocorneal endothelial syndrome
-
Shields MB. Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc 1983; 81: 736-784.
-
(1983)
Trans Am Ophthalmol Soc
, vol.81
, pp. 736-784
-
-
Shields, M.B.1
-
2
-
-
0020663453
-
Autosomal dominant iridogoniodysgenesis: Genetic features
-
Pearce WG, Wyatt HT, Boyd TA. Ombres RS, Salter AB. Autosomal dominant iridogoniodysgenesis: genetic features. Can J Ophthalmol 1983; 18: 7-10.
-
(1983)
Can J Ophthalmol
, vol.18
, pp. 7-10
-
-
Pearce, W.G.1
Wyatt, H.T.2
Boyd, T.A.3
Ombres, R.S.4
Salter, A.B.5
-
3
-
-
0035163602
-
Axenfeld-Rieger and iridocorneal endothelial syndromes: Two spectra of disease with striking similarities and differences
-
Shields MB. Axenfeld-Rieger and iridocorneal endothelial syndromes: two spectra of disease with striking similarities and differences. J Glaucoma 2001; 10: S36-38.
-
(2001)
J Glaucoma
, vol.10
-
-
Shields, M.B.1
-
4
-
-
0033867411
-
Phenotypic variability and asymmetry of Rieger Syndrome associated with PITX2 mutations
-
Perveen R, Lloyd IC. Clayton-Smith J, et al. Phenotypic variability and asymmetry of Rieger Syndrome associated with PITX2 mutations. Invest Ophthalmol Vis Sci 2000; 41: 2456-2460.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 2456-2460
-
-
Perveen, R.1
Lloyd, I.C.2
Clayton-Smith, J.3
-
5
-
-
0028142341
-
Cardiac valvular disease and Axenfeld-Rieger syndrome
-
Tsai JC, Grajewski AL. Cardiac valvular disease and Axenfeld-Rieger syndrome. Am J Ophthalmol 1994; 118: 255-256.
-
(1994)
Am J Ophthalmol
, vol.118
, pp. 255-256
-
-
Tsai, J.C.1
Grajewski, A.L.2
-
6
-
-
6844251598
-
Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: A possible new genetic syndrome
-
Cunningham ET Jr, Eliott D, Miller NR, Maumenee IH, Green WR. Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome. Arch Ophthalmol 1998; 116: 78-82.
-
(1998)
Arch Ophthalmol
, vol.116
, pp. 78-82
-
-
Cunningham Jr, E.T.1
Eliott, D.2
Miller, N.R.3
Maumenee, I.H.4
Green, W.R.5
-
7
-
-
0342948782
-
septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome
-
Bekir NA, Güngör K. septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome. Acta Ophthalmol Scand 2000; 78: 101-103.
-
(2000)
Acta Ophthalmol Scand
, vol.78
, pp. 101-103
-
-
Bekir, N.A.1
Güngör, K.2
-
8
-
-
0035341261
-
Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8)
-
Baruch AC. Erickson RP. Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8). Am J Med Genet 2001: 100: 187-190.
-
(2001)
Am J Med Genet
, vol.100
, pp. 187-190
-
-
Baruch, A.C.1
Erickson, R.P.2
-
9
-
-
0037158479
-
Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: A provisionally unique genetic syndrome?
-
Gross S, Farmetani MA, Berardi R, et al. Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome? Am J Med Genet 2002; 111: 182-186.
-
(2002)
Am J Med Genet
, vol.111
, pp. 182-186
-
-
Gross, S.1
Farmetani, M.A.2
Berardi, R.3
-
10
-
-
0021174166
-
Classification of corneal endothelial disorders based on neural Crest Origin
-
Bahn CF, Falls HF, Varley GA, Meyer RF, Edelhauser HF. Baurne WM. Classification of corneal endothelial disorders based on neural Crest Origin: Ophthalmology 1984; 91: 558-563.
-
(1984)
Ophthalmology
, vol.91
, pp. 558-563
-
-
Bahn, C.F.1
Falls, H.F.2
Varley, G.A.3
Meyer, R.F.4
Edelhauser, H.F.5
Baurne, W.M.6
-
12
-
-
0025082259
-
Association of cephalic neural crest cells with cardiovascular development, particularly that of the semilunar valves
-
Takamura K, Okishima T, Olido S, Hayakawa K. Association of cephalic neural crest cells with cardiovascular development, particularly that of the semilunar valves. Anat Embryol 1990; 182: 263-272.
-
(1990)
Anat Embryol
, vol.182
, pp. 263-272
-
-
Takamura, K.1
Okishima, T.2
Olido, S.3
Hayakawa, K.4
-
13
-
-
10544233785
-
Cloning and characterization of a novel bicoid-related homeobox transcription factor. gene, RIEG, involved in Rieger syndrome
-
Semina EV, Reiter R. Leysens NJ, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor. gene, RIEG, involved in Rieger syndrome. Nat Genet 1996; 14: 392-399.
-
(1996)
Nat Genet
, vol.14
, pp. 392-399
-
-
Semina, E.V.1
Reiter, R.2
Leysens, N.J.3
-
14
-
-
17344368672
-
The forkhead transcription factor gene FKI-1L7 is responsible for glaucoma phenotypes which map to 6p25
-
Nishimura DY, Swiderski RE, Ahvard WL, et al. The forkhead transcription factor gene FKI-1L7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 1998; 19: 140-147.
-
(1998)
Nat Genet
, vol.19
, pp. 140-147
-
-
Nishimura, D.Y.1
Swiderski, R.E.2
Ahvard, W.L.3
-
15
-
-
0029762015
-
A second locus for Rieger syndrome maps to chromosome 13q14
-
Phillips JC, del Bono EA, Haines JL, et al. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet 1996; 59: 613-619.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 613-619
-
-
Phillips, J.C.1
del Bono, E.A.2
Haines, J.L.3
-
16
-
-
18244402933
-
Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4:21 translocation
-
Velinov M, Gu H, Yeboa K, et al. Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4:21 translocation. Am J Med Genet 2002; 107: 330-333.
-
(2002)
Am J Med Genet
, vol.107
, pp. 330-333
-
-
Velinov, M.1
Gu, H.2
Yeboa, K.3
-
17
-
-
4644244221
-
Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes
-
Mirza G, Williams RR, Mohammed S, et al. Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. Eur J Hum Genet 2004; 12: 718-728.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 718-728
-
-
Mirza, G.1
Williams, R.R.2
Mohammed, S.3
-
18
-
-
33746646360
-
Congenital malformations among liveborn infants with trisomies 18 and 13
-
Pont SJ, Robbin JM, Bird TM, et al. Congenital malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet A 2006; 140: 1749-1756.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1749-1756
-
-
Pont, S.J.1
Robbin, J.M.2
Bird, T.M.3
|