-
1
-
-
0005187165
-
Elastic fibers in cutaneous disease
-
Uitto J. Elastic fibers in cutaneous disease. Curr Concepts Skin Dis 1985;6:19-23.
-
(1985)
Curr Concepts Skin Dis
, vol.6
, pp. 19-23
-
-
Uitto, J.1
-
2
-
-
0015354918
-
The dominant and recessive forms of cutis laxa
-
Beighton P. The dominant and recessive forms of cutis laxa. J Med Genet 1970;9:216-221.
-
(1970)
J Med Genet
, vol.9
, pp. 216-221
-
-
Beighton, P.1
-
3
-
-
0018897589
-
X-linked cutis laxa. Defective crosslink formation in collagen due to decreased lysyl oxidase activity
-
Byers PH, Siegel RC, Holbrook KA, Narayanan SA, Borstein P, Hall JG. X-linked cutis laxa. Defective crosslink formation in collagen due to decreased lysyl oxidase activity. N Engl J Med 1980;303:61-65.
-
(1980)
N Engl J Med
, vol.303
, pp. 61-65
-
-
Byers, P.H.1
Siegel, R.C.2
Holbrook, K.A.3
Narayanan, S.A.4
Borstein, P.5
Hall, J.G.6
-
4
-
-
0028957864
-
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase-gene in occipital horn syndrome and the blotchy mouse
-
Das S, Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase-gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet 1995;56:570-576.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 570-576
-
-
Das, S.1
Levinson, B.2
Vulpe, C.3
Whitney, S.4
Gitschier, J.5
Packman, S.6
-
5
-
-
0018081686
-
Two forms of cutis laxa presenting in newborn
-
Agha A, Sakati NO, Higginbottom MC, Jones KL Jr, Bay C, Nyhan WL. Two forms of cutis laxa presenting in newborn. Acta Paediatr Scand 1978;67:775-780.
-
(1978)
Acta Paediatr Scand
, vol.67
, pp. 775-780
-
-
Agha, A.1
Sakati, N.O.2
Higginbottom, M.C.3
Jones K.L., Jr.4
Bay, C.5
Nyhan, W.L.6
-
6
-
-
0001392587
-
Disorders of connective tissue
-
Champion RH, Burton JL, Burns DA, Breathnach SM, eds. Boston: Blackwell Science
-
Burton JL, Lovell CR. Disorders of connective tissue. In: Champion RH, Burton JL, Burns DA, Breathnach SM, eds. Textbook of Dermatology. Boston: Blackwell Science, 1998.
-
(1998)
Textbook of Dermatology
-
-
Burton, J.L.1
Lovell, C.R.2
-
7
-
-
85047691118
-
Cutis laxa: Ultrastructural and biochemical studies
-
Hashimato K, Kanzaki T. Cutis laxa: Ultrastructural and biochemical studies. Arch Dermatol 1975;111:861-873.
-
(1975)
Arch Dermatol
, vol.111
, pp. 861-873
-
-
Hashimato, K.1
Kanzaki, T.2
-
9
-
-
0024424041
-
Congenital cutis laxa
-
Oku T, Nakayama F, Imaizumi S, Takigawa M, Yamada M. Congenital cutis laxa. Dermatologica 1989;179:79-83.
-
(1989)
Dermatologica
, vol.179
, pp. 79-83
-
-
Oku, T.1
Nakayama, F.2
Imaizumi, S.3
Takigawa, M.4
Yamada, M.5
-
10
-
-
0022408998
-
Variable clinical presentation of cutis laxa
-
Fitzsimmons JS, Fitzsimmons EM, Guibert PR, Zaldua V, Dodd KL. Variable clinical presentation of cutis laxa. Clin Genet 1985;28:284-295.
-
(1985)
Clin Genet
, vol.28
, pp. 284-295
-
-
Fitzsimmons, J.S.1
Fitzsimmons, E.M.2
Guibert, P.R.3
Zaldua, V.4
Dodd, K.L.5
-
11
-
-
0023637423
-
Congenital cutis laxa with retardation of growth and development
-
Patton MA, Tolmie J, Ruthnum P, Bamforth S, Baraitser M, Pembrey M. Congenital cutis laxa with retardation of growth and development. J Med Genet 1987;24:556-561.
-
(1987)
J Med Genet
, vol.24
, pp. 556-561
-
-
Patton, M.A.1
Tolmie, J.2
Ruthnum, P.3
Bamforth, S.4
Baraitser, M.5
Pembrey, M.6
-
12
-
-
0023019970
-
Congenital cutis laxa syndrome: Relation of joint dislocations to oligohydramnios
-
Gardner LI, Sanders FK, Bifano EM. Congenital cutis laxa syndrome: Relation of joint dislocations to oligohydramnios. Arch Dermatol 1987;122:1241-1243.
-
(1987)
Arch Dermatol
, vol.122
, pp. 1241-1243
-
-
Gardner, L.I.1
Sanders, F.K.2
Bifano, E.M.3
-
13
-
-
0016006228
-
Cutis laxa, skeletal abnormalities and ambiguous genitalia
-
Kaye CL. Cutis laxa, skeletal abnormalities and ambiguous genitalia. N Engl J Med 1974;127:115-117.
-
(1974)
N Engl J Med
, vol.127
, pp. 115-117
-
-
Kaye, C.L.1
-
14
-
-
0020569102
-
Congenital cutis laxa and osteoporosis
-
Sakati NO, Nyhan WL. Congenital cutis laxa and osteoporosis. Am J Dis Child 1983;137:452-454.
-
(1983)
Am J Dis Child
, vol.137
, pp. 452-454
-
-
Sakati, N.O.1
Nyhan, W.L.2
-
15
-
-
0014293393
-
Dwarfizm, oligophrenia and degeneration of the elastic tissue in skin and cornea
-
De Barsey AM. Dwarfizm, oligophrenia and degeneration of the elastic tissue in skin and cornea. Helv Paediatr Acta 1968;23:305-313.
-
(1968)
Helv Paediatr Acta
, vol.23
, pp. 305-313
-
-
De Barsey, A.M.1
-
16
-
-
0022407329
-
De Barsey syndrome
-
Kunze J. De Barsey syndrome. Eur J Pediatr 1985;144:348-354.
-
(1985)
Eur J Pediatr
, vol.144
, pp. 348-354
-
-
Kunze, J.1
-
17
-
-
0022897787
-
Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (de Barsey Andersonn syndrome)
-
Pontz BF, Zepp F, Stöss H. Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (de Barsey Andersonn syndrome). Eur J Pediatr 1986;145:428-434.
-
(1986)
Eur J Pediatr
, vol.145
, pp. 428-434
-
-
Pontz, B.F.1
Zepp, F.2
Stöss, H.3
-
18
-
-
0021791751
-
Characterisation and partial purification of a neutral protease from the serum of a patient with autosomal recessive pulmonary emphysema and cutis laxa
-
Anderson LL, Oikarinen AL, Ryhanen L, Anderson CE, Vitto J. Characterisation and partial purification of a neutral protease from the serum of a patient with autosomal recessive pulmonary emphysema and cutis laxa. J Lab Clin Med 1985;105:537-546.
-
(1985)
J Lab Clin Med
, vol.105
, pp. 537-546
-
-
Anderson, L.L.1
Oikarinen, A.L.2
Ryhanen, L.3
Anderson, C.E.4
Vitto, J.5
-
19
-
-
0030036365
-
Autosomal recessive cutis laxa syndrome. A case report
-
Jung K, Ueberham U, Hausser I, Bosler K, John B, Linse R. Autosomal recessive cutis laxa syndrome. A case report. Acta Derm Venereol (Stockh) 1996;76:298-301.
-
(1996)
Acta Derm Venereol (Stockh)
, vol.76
, pp. 298-301
-
-
Jung, K.1
Ueberham, U.2
Hausser, I.3
Bosler, K.4
John, B.5
Linse, R.6
-
20
-
-
0023925315
-
Cutis laxa: Reduced elastin gene expression in skin fibroblast cultures
-
Olsen DR. Cutis laxa: Reduced elastin gene expression in skin fibroblast cultures. J Biol Chem 1988;263:6465-6467.
-
(1988)
J Biol Chem
, vol.263
, pp. 6465-6467
-
-
Olsen, D.R.1
-
23
-
-
0025153727
-
Vascular abnormalities in congenital cutis laxa - Report of two cases
-
Tsuji A, Yanai J, Miura T, et al. Vascular abnormalities in congenital cutis laxa - Report of two cases. Acta Paediatr Jpn 1990;32:155-161.
-
(1990)
Acta Paediatr Jpn
, vol.32
, pp. 155-161
-
-
Tsuji, A.1
Yanai, J.2
Miura, T.3
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