-
2
-
-
0014194586
-
1967 X-Linked ichthyosis and ichthyosis vulgaris: Clinical and genetic distinctions in a second series of families
-
Wells RS, Jennings MC. 1967 X-Linked ichthyosis and ichthyosis vulgaris: Clinical and genetic distinctions in a second series of families. JAMA. 1967;202:485-488.
-
(1967)
JAMA
, vol.202
, pp. 485-488
-
-
Wells, R.S.1
Jennings, M.C.2
-
4
-
-
84965266470
-
Clinical features of autosomal dominant and sex linked ichthyosis in an English population
-
Wells RS, Kerr CB. Clinical features of autosomal dominant and sex linked ichthyosis in an English population. Brit Med J. 1966;1:947- 950.
-
(1966)
Brit Med J
, vol.1
, pp. 947-950
-
-
Wells, R.S.1
Kerr, C.B.2
-
5
-
-
0020615615
-
Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism
-
Traupe H, Happle R. Clinical spectrum of steroid sulphatase deficiency: X-Linked ichthyosis, birth complications and cryptorchidism. Eur J Pediatr. 1983;140:19-21. (Pubitemid 13121996)
-
(1983)
European Journal of Pediatrics
, vol.140
, Issue.1
, pp. 19-21
-
-
Traupe, H.1
Happle, R.2
-
6
-
-
0022589841
-
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome
-
Ballabio A, Parenti G, Tippett P, et al. X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia) linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X-chromosome. Hum Genet. 1986;72:237-240. (Pubitemid 16128859)
-
(1986)
Human Genetics
, vol.72
, Issue.3
, pp. 237-240
-
-
Ballabio, A.1
Parenti, G.2
Tippett, P.3
-
7
-
-
0015232465
-
Sex-linked ichthyosis in XO gonadal dysgenesis
-
Solomon IL, Schoen E J. Sex-linked ichthyosis in XO gonadal dysgenesis. Lancet. 1971;1(7712):1304-1305.
-
(1971)
Lancet
, vol.1
, Issue.7712
, pp. 1304-1305
-
-
Solomon, I.L.1
Schoen, E.J.2
-
8
-
-
34447504783
-
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD
-
DOI 10.1016/j.ejmg.2007.04.005, PII S1769721207000511
-
Lonardo F, Parenti G, Luquetti DV, et al. Contiguous gene syndrome due to an interstitial delection in Xp 22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. Eu J Med Genet. 2007;50:301-308. (Pubitemid 47064449)
-
(2007)
European Journal of Medical Genetics
, vol.50
, Issue.4
, pp. 301-308
-
-
Lonardo, F.1
Parenti, G.2
Luquetti, D.V.3
Annunziata, I.4
Della, M.M.5
Perone, L.6
De Gregori, M.7
Zuffardi, O.8
Brunetti-Pierri, N.9
Andria, G.10
Scarano, G.11
-
9
-
-
0031737359
-
Recessive x-linked ichthyosis: Role of cholesterol-sulfate accumulation in the barrier abnormality
-
DOI 10.1046/j.1523-1747.1998.00386.x
-
Zettersten E, Man MQ, Sato J, et al. Recessive X-linked ichthyosis: Role of cholerterol-sulfate accumulation in the barrier abnormality. J Invest Derm. 1998;111(5):784-790. (Pubitemid 28509319)
-
(1998)
Journal of Investigative Dermatology
, vol.111
, Issue.5
, pp. 784-790
-
-
Zettersten, E.1
Man, M.-Q.2
Sato, J.3
Denda, M.4
Farrell, A.5
Ghadially, R.6
Williams, M.L.7
Feingold, K.R.8
Elias, P.M.9
-
11
-
-
1842283931
-
Isolation and characterization of a steroid sulfatase cDNA clone: Genomic deletions in patients with X-chromosome-linked ichthyosis
-
DOI 10.1073/pnas.84.13.4519
-
Ballbio A, Parenti G, Carrozzo R, et al, Persico MG. Isolation and characterization of a seteroid sulfatase DNA clone: Genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Nat Acad Sci. 1987;84(13):4519-4523. (Pubitemid 17097848)
-
(1987)
Proceedings of the National Academy of Sciences of the United States of America
, vol.84
, Issue.13
, pp. 4519-4523
-
-
Ballabio, A.1
Parenti, G.2
Carrozzo, R.3
-
12
-
-
0034146404
-
A novel partial deletion of exons 2-10 of the STS gene in recessive X- linked ichthyosis
-
DOI 10.1046/j.1523-1747.2000.00924.x
-
Valdes-Flores M, Kofman-Alfaro SH, Veca AL, Cuevas-Covarrubias SA. A novel partial deletion of exon 2-10 of the STS gene in recessive X-Linked ichthyosis. J. Invest Derm. 2000;114(3):591-593. (Pubitemid 30415350)
-
(2000)
Journal of Investigative Dermatology
, vol.114
, Issue.3
, pp. 591-593
-
-
Valdes-Flores, M.1
Kofman-Alfaro, S.H.2
Jimenez, V.A.L.3
Cuevas-Covarrubias, S.A.4
-
14
-
-
0026550483
-
Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis
-
Basler E, Grompe M, Parenti G, et al. Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Am J Hum Genet. 1992;50(3):483-491.
-
(1992)
Am J Hum Genet
, vol.50
, Issue.3
, pp. 483-491
-
-
Basler, E.1
Grompe, M.2
Parenti, G.3
-
15
-
-
0030753202
-
Characterization of point mutations in patients with X-linked ichthyosis: Effects on the structure and function of the steroid sulfatase protein
-
DOI 10.1074/jbc.272.33.20756
-
Alperin ES, Shapiro LJ. Characterization of point mutations with X-linked ichthyosis: Effects on the structure and function of the steroid sulfatase protein. J Biol Chem. 1997;272(33):20756-20763. (Pubitemid 27355642)
-
(1997)
Journal of Biological Chemistry
, vol.272
, Issue.33
, pp. 20756-20763
-
-
Alperin, E.S.1
Shapiro, L.J.2
-
16
-
-
0035425950
-
Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis
-
DOI 10.1002/ajmg.1450
-
Valdes-Flores M, Kofman-Alfaro SH, Jimenez-Veca AL, Cuevs-Covarrubias SA. Carrier identification by FISH analysis in isolated cases of X-Linked ichthyosis. Am J Med Genet. 2001;102(2):146-148. (Pubitemid 32674986)
-
(2001)
American Journal of Medical Genetics
, vol.102
, Issue.2
, pp. 146-148
-
-
Valdes-Flores, M.1
Kofman-Alfaro, S.H.2
Jimenez-Vaca, A.L.3
Cuevas-Covarrubias, S.A.4
-
17
-
-
84873774904
-
Microtechnique for culturing leucocytes from whole blood
-
Arkakaki DT, Sparkes RS. Microtechnique for culturing leucocytes from whole blood. Cytogenetics. 1963;2:57-60.
-
(1963)
Cytogenetics
, vol.2
, pp. 57-60
-
-
Arkakaki, D.T.1
Sparkes, R.S.2
-
18
-
-
0013663724
-
Chromosome preparations of leucoytes cultured from human blood
-
Moorehead PS, Nowell PC, Mellman WJ, et al. Chromosome preparations of leucoytes cultured from human blood. Exp Cell Res. 1960;20:613-616.
-
(1960)
Exp Cell Res
, vol.20
, pp. 613-616
-
-
Moorehead, P.S.1
Nowell, P.C.2
Mellman, W.J.3
-
19
-
-
0015246254
-
A rapid banding technique for human chromosome
-
Seabirght M. A rapid banding technique for human chromosome. Lancet. 1971;11(7731):971-972.
-
(1971)
Lancet
, vol.11
, Issue.7731
, pp. 971-972
-
-
Seabirght, M.1
-
22
-
-
0023027515
-
Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes
-
Pinkle D, Gray J, Trask B, et al Cytogenetic analysis by insitu hybridization with fluorescently labeled nucleic acid probes. Cold Spring Harbor Symp. Quaut Biol. 1986;51 Pt 1:151-157. (Pubitemid 17076697)
-
(1986)
Cold Spring Harbor Symposia on Quantitative Biology
, vol.51
, Issue.1
, pp. 151-157
-
-
Pinkel, D.1
Gray, J.W.2
Trask, B.3
-
23
-
-
0035717589
-
Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population
-
Veca A, Valdes-Flores M, Vega M, et al. Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population. Molecular Medicine. 2001;7(12):845-849. (Pubitemid 34175307)
-
(2001)
Molecular Medicine
, vol.7
, Issue.12
, pp. 845-849
-
-
Jimenez, V.A.L.1
Valdes-Flores, M.2
Rivera-Vega, M.D.R.3
Gonzalez-Huerta, L.M.4
Kofman-Alfaro, S.H.5
Cuevas-Covarrubias, S.A.6
-
24
-
-
0019787704
-
X-linked recessive ichthyosis in three sisters: Evidence for homozygosity
-
Merovah B, Frenk E, Muller CR, Ropers HH. X-linked recessive ichthyosis in three sisters: Evidence for homozygosity. Br J Dermatol. 1981;105(6):711-717. (Pubitemid 12253353)
-
(1981)
British Journal of Dermatology
, vol.105
, Issue.6
, pp. 711-717
-
-
Mevorah, B.1
Frenk, E.2
Muller, C.R.3
Ropers, H.H.4
-
25
-
-
0031036182
-
Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy
-
Quan F, Janas J, Toth-Fejel S, et al. Uniparental disomy of the entire X-chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet. 1997;60(1):160-165. (Pubitemid 26427790)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.1
, pp. 160-165
-
-
Quan, F.1
Janas, J.2
Toth-Fejel, S.3
Johnson, D.B.4
Wolford, J.K.5
Popovich, B.W.6
-
27
-
-
0015849213
-
Ichthyosiform dermatoses
-
Frost P. Ichthyosiform dermatoses. J Invest Dermatol. 1973;60(6):541-552.
-
(1973)
J Invest Dermatol
, vol.60
, Issue.6
, pp. 541-552
-
-
Frost, P.1
-
28
-
-
0019482240
-
Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis
-
Epstein EH JR, Leventhal ME. Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis. J Clin Invest. 1981;67(5):1257-1262. (Pubitemid 11099339)
-
(1981)
Journal of Clinical Investigation
, vol.67
, Issue.5
, pp. 1257-1262
-
-
Epstein Jr., E.H.1
Leventhal, M.E.2
-
29
-
-
0023662270
-
Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implication for X-Y interchange
-
Yen PH, Allen E, Marsh B, et al. Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implication for X-Y interchange. Cell. 1987;49(4):443- 454.
-
(1987)
Cell
, vol.49
, Issue.4
, pp. 443-454
-
-
Yen, P.H.1
Allen, E.2
Marsh, B.3
-
30
-
-
33845710459
-
Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation
-
DOI 10.1016/j.jdermsci.2006.10.001, PII S0923181106003057
-
Hosomi N, Oisa N, Fukain K, et al. Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation. J Dermatol Science. 2007;45(1):31-36. (Pubitemid 44969509)
-
(2007)
Journal of Dermatological Science
, vol.45
, Issue.1
, pp. 31-36
-
-
Hosomi, N.1
Oiso, N.2
Fukai, K.3
Hanada, K.4
Fujita, H.5
Ishii, M.6
|