-
1
-
-
0002362694
-
Dwarfism with retinal atrophy and deafness
-
[1] Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1936;11:1-8.
-
(1936)
Arch Dis Child
, vol.11
, pp. 1-8
-
-
Cockayne, E.A.1
-
2
-
-
0002362692
-
Dwarfism with retinal atrophy and deafness
-
[2] Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1946;21:52-4.
-
(1946)
Arch Dis Child
, vol.21
, pp. 52-54
-
-
Cockayne, E.A.1
-
3
-
-
0018633581
-
Cockayne's syndrome: Report of two siblings and review of the literature
-
[3] KiHong J, Handa T, Ishibara T, Yoshii F. Cockayne's syndrome: report of two siblings and review of the literature. Jpn Brain Dev 1979; 1:305-12.
-
(1979)
Jpn Brain Dev
, vol.1
, pp. 305-312
-
-
KiHong, J.1
Handa, T.2
Ishibara, T.3
Yoshii, F.4
-
4
-
-
0023307315
-
Rare syndromes I. Cockayne syndrome: A review of the 129 cases so far reported in the literature
-
[4] Cantani A, Bamonte G, Bellioni P. Rare syndromes I. Cockayne syndrome: a review of the 129 cases so far reported in the literature. Eur Rev Med Pharm Sci 1987;9:9-17.
-
(1987)
Eur Rev Med Pharm Sci
, vol.9
, pp. 9-17
-
-
Cantani, A.1
Bamonte, G.2
Bellioni, P.3
-
5
-
-
0026508774
-
Cockayne syndrome: Review of 140 cases
-
[5] Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992;42:68-84.
-
(1992)
Am J Med Genet
, vol.42
, pp. 68-84
-
-
Nance, M.A.1
Berry, S.A.2
-
6
-
-
0015289716
-
Cockayne's syndrome: A report of three cases
-
[6] Alton DJ, McDonald P, Reilly BJ. Cockayne's syndrome: a report of three cases. Radiology 1972;102:403-6.
-
(1972)
Radiology
, vol.102
, pp. 403-406
-
-
Alton, D.J.1
McDonald, P.2
Reilly, B.J.3
-
7
-
-
0027303168
-
Cockayne Syndrome: Correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation
-
[7] Lehmann AR, Thompson AF, Harcourt SA. Stefanini M, Morris PG. Cockayne Syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. J Med Genet 1993;30: 679-82.
-
(1993)
J Med Genet
, vol.30
, pp. 679-682
-
-
Lehmann, A.R.1
Thompson, A.F.2
Harcourt, S.A.3
Stefanini, M.4
Norris, P.G.5
-
8
-
-
0011950165
-
The definition of a cellular defect in two patients with CS
-
[8] Schmickel RD, Chu EHY, Trosko JE. The definition of a cellular defect in two patients with CS. Pediatr Res 1975;9:317.
-
(1975)
Pediatr Res
, vol.9
, pp. 317
-
-
Schmickel, R.D.1
Chu, E.H.Y.2
Trosko, J.E.3
-
9
-
-
0018193392
-
Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis
-
[9] Andrews AD, Barrett SF, Yoder FW, Robbins JH. Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis. J Invest Dermatol 1978;70: 237-9.
-
(1978)
J Invest Dermatol
, vol.70
, pp. 237-239
-
-
Andrews, A.D.1
Barrett, S.F.2
Yoder, F.W.3
Robbins, J.H.4
-
10
-
-
0017653212
-
Cockayne's syndrome, a cellular hypersensitivity to ultraviolet light
-
[10] Schmickel RD, Chu EHY, Trosko JE, Chang CC. Cockayne's syndrome, a cellular hypersensitivity to ultraviolet light. Pediatrics 1977; 60:135-9.
-
(1977)
Pediatrics
, vol.60
, pp. 135-139
-
-
Schmickel, R.D.1
Chu, E.H.Y.2
Trosko, J.E.3
Chang, C.C.4
-
11
-
-
0020066520
-
Failure of RNA synthesis to recover after UV irradiation: An early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum
-
[11] Mayne LV, Lehmann AR, Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum. Cancer Res 1982;42: 1473-8.
-
(1982)
Cancer Res
, vol.42
, pp. 1473-1478
-
-
Mayne, L.V.1
Lehmann, A.R.2
-
13
-
-
0025341294
-
The genetic defect in CS is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA
-
[13] Venema J, Mullenders LHF, Natarajan AT, Van Zeeland AA, Mayne LV. The genetic defect in CS is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc Natl Acad Sci USA 1990;87:4707-11.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 4707-4711
-
-
Venema, J.1
Mullenders, L.H.F.2
Natarajan, A.T.3
Van Zeeland, A.A.4
Mayne, L.V.5
-
14
-
-
0000569209
-
A syndrome resembling progeria: A review of two cases
-
[14] Neill CA, Dingwall MM. A syndrome resembling progeria: a review of two cases. Arch Dis Child 1950;25:213-21.
-
(1950)
Arch Dis Child
, vol.25
, pp. 213-221
-
-
Neill, C.A.1
Dingwall, M.M.2
-
15
-
-
0018732978
-
Cockayne's syndrome: Unusual neuropathologic findings and review of the literature
-
[15] Soffer D, Grotsky H, Rapin I, Suzuki K. Cockayne's syndrome: unusual neuropathologic findings and review of the literature. Ann Neurol 1979;6:340-8.
-
(1979)
Ann Neurol
, vol.6
, pp. 340-348
-
-
Soffer, D.1
Grotsky, H.2
Rapin, I.3
Suzuki, K.4
-
16
-
-
0020265071
-
Early onset of Cockayne syndrome
-
[16] Lowry RB. Early onset of Cockayne syndrome. Am J Med Genet 1982;13:209-10.
-
(1982)
Am J Med Genet
, vol.13
, pp. 209-210
-
-
Lowry, R.B.1
-
17
-
-
0027944979
-
Consanguineous marriage in Turkey and its impact on fertility and mortality
-
[17] Tunçbilek E, Koç I. Consanguineous marriage in Turkey and its impact on fertility and mortality. Ann Hum Genet 1994;58:321-9.
-
(1994)
Ann Hum Genet
, vol.58
, pp. 321-329
-
-
Tunçbilek, E.1
Koç, I.2
|