-
1
-
-
0002362692
-
Dwarfism with retinal atrophy and deafness
-
Cockayne EA (1946) Dwarfism with retinal atrophy and deafness. Arch Dis Child 21: 52-54
-
(1946)
Arch Dis Child
, vol.21
, pp. 52-54
-
-
Cockayne, E.A.1
-
2
-
-
0026508774
-
Cockayne syndrome: Reviewing of 140 cases
-
Nance MA, Berry SA (1992) Cockayne syndrome: reviewing of 140 cases. Am J Med Genet 42: 68-84
-
(1992)
Am J Med Genet
, vol.42
, pp. 68-84
-
-
Nance, M.A.1
Berry, S.A.2
-
3
-
-
0020305594
-
Photosensitivity and the genodermatoses
-
Fischer E, Jung EG (1982) Photosensitivity and the genodermatoses. Semin Dermatol 1: 169-174
-
(1982)
Semin Dermatol
, vol.1
, pp. 169-174
-
-
Fischer, E.1
Jung, E.G.2
-
4
-
-
33646324810
-
Cockayne's syndrome: Heredofamilial disorder of growth and development. Editor's comment
-
Gellis SS (ed) Year Book Medical, Chicago
-
Gellis SS (1962) Cockayne's syndrome: heredofamilial disorder of growth and development. Editor's comment. In: Gellis SS (ed) Year Book of Pediatrics 1961-1962. Year Book Medical, Chicago, pp 468-471
-
(1962)
Year Book of Pediatrics 1961-1962
, pp. 468-471
-
-
Gellis, S.S.1
-
5
-
-
0014027656
-
Renal lesions in Cockayne's syndrome
-
Ohno T, Hirooka M (1966) Renal lesions in Cockayne's syndrome. Tohoku J Exp Med 89: 151
-
(1966)
Tohoku J Exp Med
, vol.89
, pp. 151
-
-
Ohno, T.1
Hirooka, M.2
-
6
-
-
0014600719
-
Cockayne's syndrome: Report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone
-
Fujimoto WY, Greene ML, Seegmiller JE (1969) Cockayne's syndrome: report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone. J Pediatr 75: 881-884
-
(1969)
J Pediatr
, vol.75
, pp. 881-884
-
-
Fujimoto, W.Y.1
Greene, M.L.2
Seegmiller, J.E.3
-
7
-
-
0014669115
-
Cockayne's syndrome. Report of case with necropsy findings
-
Rowlatt U (1969) Cockayne's syndrome. Report of case with necropsy findings. Acta Neuropathol (Berl) 14: 52-61
-
(1969)
Acta Neuropathol (Berl)
, vol.14
, pp. 52-61
-
-
Rowlatt, U.1
-
8
-
-
0016489919
-
Lesiones renales ultrastructurales del sindrome de Cockayne
-
Hernandez AL, Leon B de, Garcia S, Puente de la, Castillo V del (1975) Lesiones renales ultrastructurales del sindrome de Cockayne. Rev Invest Clin (Mex) 27: 153-158
-
(1975)
Rev Invest Clin (Mex)
, vol.27
, pp. 153-158
-
-
Hernandez, A.L.1
De Leon, B.2
Garcia, S.3
De La Puente4
Del Castillo, V.5
-
9
-
-
0017469594
-
Cockayne syndrome: Clinical study of two patients and neuropathologic findings in one
-
Sugarman GI, Landing BH, Reed WB (1977) Cockayne syndrome: clinical study of two patients and neuropathologic findings in one. Clin Pediatr (Phila) 16: 225-232
-
(1977)
Clin Pediatr (Phila)
, vol.16
, pp. 225-232
-
-
Sugarman, G.I.1
Landing, B.H.2
Reed, W.B.3
-
10
-
-
0018693430
-
The Cockayne syndrome: An evaluation of hypertension and studies of renal pathology
-
Higginbottom MC, Griswold WR, Jones KL, Vasquez MD, Mendoza SA, Wilson CB (1979) The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology. Pediatrics 64: 929-934
-
(1979)
Pediatrics
, vol.64
, pp. 929-934
-
-
Higginbottom, M.C.1
Griswold, W.R.2
Jones, K.L.3
Vasquez, M.D.4
Mendoza, S.A.5
Wilson, C.B.6
-
11
-
-
0021947236
-
Cockayne syndrome: Clinicopathologic and tissue cultures studies of affected siblings
-
Leech RW, Brumback RA, Miller RH, Otsuka F, Tarone RE, Robbins JH (1985) Cockayne syndrome: clinicopathologic and tissue cultures studies of affected siblings. J Neuropathol Exp Neurol 44: 507-519
-
(1985)
J Neuropathol Exp Neurol
, vol.44
, pp. 507-519
-
-
Leech, R.W.1
Brumback, R.A.2
Miller, R.H.3
Otsuka, F.4
Tarone, R.E.5
Robbins, J.H.6
-
13
-
-
0023901408
-
Cockayne syndrome: Magnetic resonance images of the brain in a severe form with early onset
-
Nishio H, Kodama S, Matsuo T, Ichihashi M, Ito H, Fujiwara Y (1988) Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset. J Inherited Metab Dis 11: 88-102
-
(1988)
J Inherited Metab Dis
, vol.11
, pp. 88-102
-
-
Nishio, H.1
Kodama, S.2
Matsuo, T.3
Ichihashi, M.4
Ito, H.5
Fujiwara, Y.6
-
14
-
-
0023877558
-
Renal lesions in Cockayne's syndrome
-
Sato H, Saito T, Kurosawa K, Ootaka T, Furuyama T, Yoshinaga K (1988) Renal lesions in Cockayne's syndrome. Clin Nephrol 29: 206-209
-
(1988)
Clin Nephrol
, vol.29
, pp. 206-209
-
-
Sato, H.1
Saito, T.2
Kurosawa, K.3
Ootaka, T.4
Furuyama, T.5
Yoshinaga, K.6
-
15
-
-
0024380089
-
MRI in Cockayne syndrome type I
-
Boltshauser E, Yalcinkaya C, Wichmann W, Reutter F, Prader A, Valavanis A (1989) MRI in Cockayne syndrome type I. Neuroradiology 31: 276-277
-
(1989)
Neuroradiology
, vol.31
, pp. 276-277
-
-
Boltshauser, E.1
Yalcinkaya, C.2
Wichmann, W.3
Reutter, F.4
Prader, A.5
Valavanis, A.6
-
16
-
-
0019786395
-
Collagen synthesis by fibroblasts in a patient with the Cockayne syndrome
-
Keren G, Duskin D, Cohen BE, Goodman RM (1981) Collagen synthesis by fibroblasts in a patient with the Cockayne syndrome. Eur J Pediatr 137: 339-342
-
(1981)
Eur J Pediatr
, vol.137
, pp. 339-342
-
-
Keren, G.1
Duskin, D.2
Cohen, B.E.3
Goodman, R.M.4
-
17
-
-
0023307315
-
Rare syndromes. I. Cockayne syndrome: A review of the 129 cases so far reported in the literature
-
Cantani A, Bamonte G, Bellioni P, Tucci Bamonte M, Ceccoli D, Tacconi ML (1987) Rare syndromes. I. Cockayne syndrome: a review of the 129 cases so far reported in the literature. Eur Rev Med Pharm Sci 9: 9-17
-
(1987)
Eur Rev Med Pharm Sci
, vol.9
, pp. 9-17
-
-
Cantani, A.1
Bamonte, G.2
Bellioni, P.3
Tucci Bamonte, M.4
Ceccoli, D.5
Tacconi, M.L.6
-
18
-
-
0023245454
-
Ultraviolet hypersensitivity of cultured fibroblasts of a case of Cockayne's syndrome without clinical hypersensitivity
-
Sakashita Y, Kuzuhara S, Honda S, Ohkawa Y, Yamanouchi H (1987) Ultraviolet hypersensitivity of cultured fibroblasts of a case of Cockayne's syndrome without clinical hypersensitivity. Clin Neurol 27: 741-744
-
(1987)
Clin Neurol
, vol.27
, pp. 741-744
-
-
Sakashita, Y.1
Kuzuhara, S.2
Honda, S.3
Ohkawa, Y.4
Yamanouchi, H.5
-
19
-
-
0022922411
-
Cockayne's syndrome presenting cerebral ischemic attack: Case report
-
Shirasaki N, Hayashi M, Handa Y, Kabuto M, Tsuji T, Kawano H, Kobayashi H (1986) Cockayne's syndrome presenting cerebral ischemic attack: case report. No To Shinkei 38: 871-875
-
(1986)
No to Shinkei
, vol.38
, pp. 871-875
-
-
Shirasaki, N.1
Hayashi, M.2
Handa, Y.3
Kabuto, M.4
Tsuji, T.5
Kawano, H.6
Kobayashi, H.7
-
20
-
-
0001574585
-
Adrenoleukodystrophy (x-linked)
-
Scriver CR, Beaudet AL, Shy WS, Valle D (eds) McGraw Hill, New York
-
Moser MW, Moser AE (1989) Adrenoleukodystrophy (x-linked). In: Scriver CR, Beaudet AL, Shy WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw Hill, New York, pp 1511-1532
-
(1989)
The Metabolic Basis of Inherited Disease, 6th Edn.
, pp. 1511-1532
-
-
Moser, M.W.1
Moser, A.E.2
-
21
-
-
0024428765
-
Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome
-
Jaeken J, Klocker H, Schwaiger H, Bellmann R, Hirsch-Kauffmann M, Schweiger M (1989) Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. Hum Genet 83: 339-346
-
(1989)
Hum Genet
, vol.83
, pp. 339-346
-
-
Jaeken, J.1
Klocker, H.2
Schwaiger, H.3
Bellmann, R.4
Hirsch-Kauffmann, M.5
Schweiger, M.6
-
22
-
-
0025341294
-
The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA
-
Venema J, Mullenders LH, Natarajan AT, Zeeland AA van, Mayne LV (1990) The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc Natl Acad Sci USA 87: 4707-4711
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 4707-4711
-
-
Venema, J.1
Mullenders, L.H.2
Natarajan, A.T.3
Van Zeeland, A.A.4
Mayne, L.V.5
-
23
-
-
0027295923
-
The conudrum of xeroderma pigmentosum - A rare disease with frequent complexities
-
Friedberg EC, Henking KA (1993) The conudrum of xeroderma pigmentosum - a rare disease with frequent complexities. Mutat Res 289: 47-53
-
(1993)
Mutat Res
, vol.289
, pp. 47-53
-
-
Friedberg, E.C.1
Henking, K.A.2
|