-
1
-
-
0026345962
-
Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities
-
Bonifas JM, Rothman AL, Epstein EH. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 1991; 254:1202-1205.
-
(1991)
Science
, vol.254
, pp. 1202-1205
-
-
Bonifas, J.M.1
Rothman, A.L.2
Epstein, E.H.3
-
2
-
-
17444449599
-
Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q
-
Compton JG, DiGiovanna JJ, Santucci SK, et al. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. Nature Genetics 1992; 1:301-305.
-
(1992)
Nature Genetics
, vol.1
, pp. 301-305
-
-
Compton, J.G.1
DiGiovanna, J.J.2
Santucci, S.K.3
-
3
-
-
0028028223
-
Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q
-
Russell LJ, DiGiovanna JJ, Hashem N, et al. Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am J Hum Genet 1994; 55:1146-1152.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1146-1152
-
-
Russell, L.J.1
DiGiovanna, J.J.2
Hashem, N.3
-
4
-
-
15844386165
-
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome
-
Hahn H, Wicking C, Zaphiropoulos PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996; 85:841-851.
-
(1996)
Cell
, vol.85
, pp. 841-851
-
-
Hahn, H.1
Wicking, C.2
Zaphiropoulos, P.G.3
-
5
-
-
15844381336
-
Human homolog of patched, a candidate gene for the basal cell nevus syndrome
-
Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996; 272:1668-1671.
-
(1996)
Science
, vol.272
, pp. 1668-1671
-
-
Johnson, R.L.1
Rothman, A.L.2
Xie, J.3
-
6
-
-
0023744791
-
Pseudoxanthoma elasticum
-
Neldner K. Pseudoxanthoma elasticum. Clin Dermatol 1988; 6:1-159.
-
(1988)
Clin Dermatol
, vol.6
, pp. 1-159
-
-
Neldner, K.1
-
7
-
-
0345191400
-
Anton-Lamprecht I. Stromal aberrations
-
Papadimitriou JM, Henderson DW, Spagnolo DV, eds. Churchill Livingstone
-
Harvey JM, Anton-Lamprecht I. Stromal aberrations. In: Papadimitriou JM, Henderson DW, Spagnolo DV, eds. Diagnostic ultrastructure of non-neoplastic diseases. Churchill Livingstone, 1992:91-94.
-
(1992)
Diagnostic Ultrastructure of Non-neoplastic Diseases
, pp. 91-94
-
-
Harvey, J.M.1
-
8
-
-
0016501096
-
Historical evidence for the generic heterogeneity of pseudoxanthoma elasticum
-
Pope FM. Historical evidence for the generic heterogeneity of pseudoxanthoma elasticum. Br J Dermatol 1975; 92:493-509.
-
(1975)
Br J Dermatol
, vol.92
, pp. 493-509
-
-
Pope, F.M.1
-
9
-
-
44049123201
-
Workshop on pseudoxanthoma elasticum: Molecular biology and pathology of the elastic fibers
-
Jefferson Medical College, Philadelphia, PA, June 10, 1992
-
Christiano AM, Lebwohl MD, Boyd CD, Uitto J. Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, PA, June 10, 1992. J Invest Dermatol 1992; 99:660-663.
-
(1992)
J Invest Dermatol
, vol.99
, pp. 660-663
-
-
Christiano, A.M.1
Lebwohl, M.D.2
Boyd, C.D.3
Uitto, J.4
-
10
-
-
0030730124
-
Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1
-
Struk B, Neldner KH, Rao VS, et al. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Molec Genet 1997; 6:1823-1828.
-
(1997)
Hum Molec Genet
, vol.6
, pp. 1823-1828
-
-
Struk, B.1
Neldner, K.H.2
Rao, V.S.3
-
11
-
-
1042271786
-
Methods of linkage analysis
-
Ott J, ed. Baltimore, MD: Johns Hopkins University Press
-
Ott J. Methods of linkage analysis. In: Ott J, ed. Analysis of human genetic linkage. Baltimore, MD: Johns Hopkins University Press, 1992:78-79.
-
(1992)
Analysis of Human Genetic Linkage
, pp. 78-79
-
-
Ott, J.1
-
12
-
-
0030316960
-
When genetics gets under your skin
-
Bale SJ. When genetics gets under your skin. J Cutan Med Surg 1996; 1:97-100.
-
(1996)
J Cutan Med Surg
, vol.1
, pp. 97-100
-
-
Bale, S.J.1
-
13
-
-
0030964532
-
A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1
-
van Soest S, Swart J, Tijmes N, et al. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. Genome Res 1997; 7:830-834.
-
(1997)
Genome Res
, vol.7
, pp. 830-834
-
-
Van Soest, S.1
Swart, J.2
Tijmes, N.3
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