-
1
-
-
17044428337
-
Steroid sulfatase: Molecular biology, regulation, and inhibition
-
Reed MJ, Purohit A, Woo LW, Newman SP, Potter BV. Steroid sulfatase: molecular biology, regulation, and inhibition. Endocr Rev 2005 26 : 171 202.
-
(2005)
Endocr Rev
, vol.26
, pp. 171-202
-
-
Reed, M.J.1
Purohit, A.2
Woo, L.W.3
Newman, S.P.4
Potter, B.V.5
-
2
-
-
0013791601
-
Genetic classification of ichthyosis
-
Wells RS, Kerr CB. Genetic classification of ichthyosis. Arch Dermatol 1965 92 : 1 6.
-
(1965)
Arch Dermatol
, vol.92
, pp. 1-6
-
-
Wells, R.S.1
Kerr, C.B.2
-
4
-
-
0142165862
-
Male-pattern baldness is common in men with X-linked recessive ichthyosis
-
Axt-Gadermann M, Schlichting M, Küster W. Male-pattern baldness is common in men with X-linked recessive ichthyosis. Dermatology 2003 207 : 308 309.
-
(2003)
Dermatology
, vol.207
, pp. 308-309
-
-
Axt-Gadermann, M.1
Schlichting, M.2
Küster, W.3
-
5
-
-
84919585371
-
X-linked ichthyosis due to steroid-sulphatase deficiency
-
Webster D, France JT, Shapiro LJ, Weiss R. X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet 1978 1 : 70 72.
-
(1978)
Lancet
, vol.1
, pp. 70-72
-
-
Webster, D.1
France, J.T.2
Shapiro, L.J.3
Weiss, R.4
-
6
-
-
0021678861
-
Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis
-
Elias PM, Williams ML, Maloney ME et al. Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis. J Clin Invest 1984 74 : 1414 1421.
-
(1984)
J Clin Invest
, vol.74
, pp. 1414-1421
-
-
Elias, P.M.1
Williams, M.L.2
Maloney, M.E.3
-
7
-
-
0018838954
-
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223
-
Tiepolo L, Zuffardi O, Fraccaro M et al. Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet 1980 54 : 205 206.
-
(1980)
Hum Genet
, vol.54
, pp. 205-206
-
-
Tiepolo, L.1
Zuffardi, O.2
Fraccaro, M.3
-
8
-
-
0018756115
-
Non-inactivation of an X-chromosome locus in man
-
Shapiro LJ, Mohandas T, Weiss R, Romeo G. Non-inactivation of an X-chromosome locus in man. Science 1979 204 : 1224 1226.
-
(1979)
Science
, vol.204
, pp. 1224-1226
-
-
Shapiro, L.J.1
Mohandas, T.2
Weiss, R.3
Romeo, G.4
-
9
-
-
0024208474
-
The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: Evidence for an inversion of the y chromosome during primate evolution
-
Yen PH, Marsh B, Allen E et al. The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 1988 55 : 1123 1135.
-
(1988)
Cell
, vol.55
, pp. 1123-1135
-
-
Yen, P.H.1
Marsh, B.2
Allen, E.3
-
10
-
-
0009462761
-
Molecular studies of deletions at the human steroid sulfatase locus
-
Shapiro LJ, Yen P, Pomerantz D et al. Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci USA 1989 86 : 8477 8481.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 8477-8481
-
-
Shapiro, L.J.1
Yen, P.2
Pomerantz, D.3
-
11
-
-
40949133742
-
Segregation analysis in X-linked ichthyosis: Paternal transmission of the affected X-chromosome
-
Toral-Lopez J, González-Huerta LM, Cuevas-Covarrubias SA. Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome. Br J Dermatol 2008 158 : 818 820.
-
(2008)
Br J Dermatol
, vol.158
, pp. 818-820
-
-
Toral-Lopez, J.1
González-Huerta, L.M.2
Cuevas-Covarrubias, S.A.3
-
12
-
-
23944517115
-
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis
-
Van Esch H, Hollanders K, Badisco L et al. Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet 2005 14 : 1795 1803.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1795-1803
-
-
Van Esch, H.1
Hollanders, K.2
Badisco, L.3
-
14
-
-
0025368847
-
Detection of carriers for X-linked ichthyosis by Southern blot analysis and identification of one family with a de novo mutation
-
Bonifas JM, Epstein EH Jr. Detection of carriers for X-linked ichthyosis by Southern blot analysis and identification of one family with a de novo mutation. J Invest Dermatol 1990 95 : 16 19.
-
(1990)
J Invest Dermatol
, vol.95
, pp. 16-19
-
-
Bonifas, J.M.1
Epstein, Jr.E.H.2
-
15
-
-
1842283931
-
Isolation and characterization of a steroid sulfatase cDNA clone: Genomic deletions in patients with X-chromosome-linked ichthyosis
-
Ballabio A, Parenti G, Carrozzo R et al. Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci USA 1987 84 : 4519 4523.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 4519-4523
-
-
Ballabio, A.1
Parenti, G.2
Carrozzo, R.3
-
16
-
-
0024527636
-
Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels
-
Ballabio A, Carrozzo R, Parenti G et al. Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics 1989 4 : 36 40.
-
(1989)
Genomics
, vol.4
, pp. 36-40
-
-
Ballabio, A.1
Carrozzo, R.2
Parenti, G.3
-
17
-
-
0028818051
-
A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction
-
Nomura K, Nakano H, Umeki K et al. A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction. Acta Derm Venereol 1995 75 : 340 342.
-
(1995)
Acta Derm Venereol
, vol.75
, pp. 340-342
-
-
Nomura, K.1
Nakano, H.2
Umeki, K.3
-
19
-
-
0033995677
-
Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: Analysis by polymerase chain reaction and fluorescence in situ hybridization techniques
-
Aviram-Goldring A, Goldman B, Netanelov-Shapira I et al. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. Int J Dermatol 2000 39 : 182 187.
-
(2000)
Int J Dermatol
, vol.39
, pp. 182-187
-
-
Aviram-Goldring, A.1
Goldman, B.2
Netanelov-Shapira, I.3
-
21
-
-
0034778477
-
Maternal transmission of the 3 bp deletion within exon 7 of the STS gene in steroid sulfatase deficiency
-
Valdes-Flores M, Vaca AL, Rivera-Vega MR et al. Maternal transmission of the 3 bp deletion within exon 7 of the STS gene in steroid sulfatase deficiency. J Invest Dermatol 2001 117 : 997 999.
-
(2001)
J Invest Dermatol
, vol.117
, pp. 997-999
-
-
Valdes-Flores, M.1
Vaca, A.L.2
Rivera-Vega, M.R.3
-
22
-
-
0028866985
-
X-linked ichthyosis without STS deficiency: Clinical, genetical, and molecular studies
-
Robledo R, Melis P, Schillinger E et al. X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies. Am J Med Genet 1995 59 : 143 148.
-
(1995)
Am J Med Genet
, vol.59
, pp. 143-148
-
-
Robledo, R.1
Melis, P.2
Schillinger, E.3
-
23
-
-
0023141888
-
Arylsulphatase C activity in leukocytes of patients and carriers of X-linked ichthyosis
-
Herrmann FH, Grimm U, Hadlich J. Arylsulphatase C activity in leukocytes of patients and carriers of X-linked ichthyosis. J Inherit Metab Dis 1987 10 : 89 94.
-
(1987)
J Inherit Metab Dis
, vol.10
, pp. 89-94
-
-
Herrmann, F.H.1
Grimm, U.2
Hadlich, J.3
-
24
-
-
33748333074
-
Ichthyoses: Differential diagnosis and molecular genetics
-
Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol 2006 16 : 349 359.
-
(2006)
Eur J Dermatol
, vol.16
, pp. 349-359
-
-
Oji, V.1
Traupe, H.2
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