-
1
-
-
0025231462
-
Electroretinographic diagnosis in families with X-linked retinitis pigmentosa
-
Copenh
-
Andréasson S & Ehinger B (1990): Electroretinographic diagnosis in families with X-linked retinitis pigmentosa. Acta Ophthalmol (Copenh) 68: 139-144.
-
(1990)
Acta Ophthalmol
, vol.68
, pp. 139-144
-
-
Andréasson, S.1
Ehinger, B.2
-
2
-
-
0027373815
-
Full-field electroretinogram in a patient with cutaneous melanoma - Associated retinopathy
-
Copenh
-
Andréasson S, Ponjavic V & Ehinger B (1993): Full-field electroretinogram in a patient with cutaneous melanoma - associated retinopathy. Acta Ophthalmol (Copenh) 71: 487-490.
-
(1993)
Acta Ophthalmol
, vol.71
, pp. 487-490
-
-
Andréasson, S.1
Ponjavic, V.2
Ehinger, B.3
-
3
-
-
0027265151
-
X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course
-
Arts WFM, Loonen MCB, Sengers RCA & Slooff JL (1993): X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Annals of Neurology 33: 535-539.
-
(1993)
Annals of Neurology
, vol.33
, pp. 535-539
-
-
Arts, W.F.M.1
Loonen, M.C.B.2
Sengers, R.C.A.3
Slooff, J.L.4
-
4
-
-
3242852306
-
Sjögren's reticular dystrophy of the RPE
-
Chapter V. Tapeto-retinal dystrophies
-
Berson EL (1994): Sjögren's reticular dystrophy of the RPE. Principles and Practise of Ophthalmology Vol 2, Chapter V. Tapeto-retinal dystrophies: 1259.
-
(1994)
Principles and Practise of Ophthalmology
, vol.2
, pp. 1259
-
-
Berson, E.L.1
-
7
-
-
0002923628
-
Sex-linked deafness of a possibly new type
-
Basel
-
Mohr J & Mageroy K (1960): Sex-linked deafness of a possibly new type. Acta Genet Stat Med (Basel) 10: 54-62.
-
(1960)
Acta Genet Stat Med
, vol.10
, pp. 54-62
-
-
Mohr, J.1
Mageroy, K.2
-
8
-
-
0025086902
-
Autosomal dominant cone dystrophy - Cerebellar atrophy (ADCoCA) (modified ADCA Harding II)
-
Neetens A, Martin JJ, Libert J & van den Ende P (1990): Autosomal dominant cone dystrophy - cerebellar atrophy (ADCoCA) (modified ADCA Harding II). Neuro-ophthalmology 10, No. 5: 261-275.
-
(1990)
Neuro-ophthalmology
, vol.10
, Issue.5
, pp. 261-275
-
-
Neetens, A.1
Martin, J.J.2
Libert, J.3
Van Den Ende, P.4
-
9
-
-
0027994754
-
Full-field electroretinograms in patients with central areolar choroidal dystrophy
-
Copenh
-
Ponjavic V, Andréasson S & Ehinger B (1994): Full-field electroretinograms in patients with central areolar choroidal dystrophy. Acta Ophthalmol (Copenh) 72: 537-544.
-
(1994)
Acta Ophthalmol
, vol.72
, pp. 537-544
-
-
Ponjavic, V.1
Andréasson, S.2
Ehinger, B.3
-
10
-
-
0027476863
-
Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family
-
Puddu P, Barboni P, Mantovani V, Montagna P, Cerullo A, Bragliani M, Molinotti C & Caramazza R (1993): Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family. Br J Ophthalmol 77: 84-88.
-
(1993)
Br J Ophthalmol
, vol.77
, pp. 84-88
-
-
Puddu, P.1
Barboni, P.2
Mantovani, V.3
Montagna, P.4
Cerullo, A.5
Bragliani, M.6
Molinotti, C.7
Caramazza, R.8
-
11
-
-
0016162216
-
A full-field system for clinical electroretinography
-
Rabin A & Berson EL (1974): A full-field system for clinical electroretinography. Arch Ophthalmol 92: 59-63.
-
(1974)
Arch Ophthalmol
, vol.92
, pp. 59-63
-
-
Rabin, A.1
Berson, E.L.2
-
12
-
-
0028239867
-
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
-
Saugier-Veber P, Munnich A, Bonneau D, Rozet J-M, Le Merrer M, Gil R & Boespflug-Tanguy O (1994): X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 6: 257-262.
-
(1994)
Nat Genet
, vol.6
, pp. 257-262
-
-
Saugier-Veber, P.1
Munnich, A.2
Bonneau, D.3
Rozet, J.-M.4
Le Merrer, M.5
Gil, R.6
Boespflug-Tanguy, O.7
-
14
-
-
0023932767
-
Olivo-pontocerebellar Atrophy with Retinal Degeneration
-
Traboulsi E, Maumenee I, Green R, Freimer M & Moser H (1988): Olivo-pontocerebellar Atrophy With Retinal Degeneration. Arch Ophthalmol 106: 801-806.
-
(1988)
Arch Ophthalmol
, vol.106
, pp. 801-806
-
-
Traboulsi, E.1
Maumenee, I.2
Green, R.3
Freimer, M.4
Moser, H.5
-
15
-
-
84907114765
-
Retinal cone dysfunction and mental retardation asociated with a de novo balanced translocation (1;6) (q44;q27)
-
Tranebjærg L, Sjö O & Warburg M (1986): Retinal cone dysfunction and mental retardation asociated with a de novo balanced translocation (1;6) (q44;q27). Ophthalmic Paediatr Genet 7: 167-174.
-
(1986)
Ophthalmic Paediatr Genet
, vol.7
, pp. 167-174
-
-
Tranebjærg, L.1
Sjö, O.2
Warburg, M.3
-
16
-
-
0028935319
-
A new X-linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22
-
Tranebjærg L (1995): A new X-linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 32: 257-263.
-
(1995)
J Med Genet
, vol.32
, pp. 257-263
-
-
Tranebjærg, L.1
-
17
-
-
0025802099
-
Deletion Mapping of a Retinal Cone-Rod Dystrophy: Assignment to 18q211
-
Warburg M, Sjö O, Tranebjærg L & Fledelius HC (1991): Deletion Mapping of a Retinal Cone-Rod Dystrophy: Assignment to 18q211. Am J Med Genet 39: 288-293.
-
(1991)
Am J Med Genet
, vol.39
, pp. 288-293
-
-
Warburg, M.1
Sjö, O.2
Tranebjærg, L.3
Fledelius, H.C.4
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