-
1
-
-
0037284980
-
Ichthyosis: Etiology, diagnosis, and management
-
DiGiovanna JJ, Robinson-Bostom L. Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol. 2003;4(2):81-95.
-
(2003)
Am J Clin Dermatol
, vol.4
, Issue.2
, pp. 81-95
-
-
DiGiovanna, J.J.1
Robinson-Bostom, L.2
-
2
-
-
0038115548
-
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis
-
Akiyama M, Sawamura D, Shimizu H. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol. 2003;28(3):235-240.
-
(2003)
Clin Exp Dermatol
, vol.28
, Issue.3
, pp. 235-240
-
-
Akiyama, M.1
Sawamura, D.2
Shimizu, H.3
-
3
-
-
0028817683
-
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
-
Russell LJ, DiGiovanna JJ, Rogers GR, et al. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet. 1995;9(3):279-283.
-
(1995)
Nat Genet
, vol.9
, Issue.3
, pp. 279-283
-
-
Russell, L.J.1
DiGiovanna, J.J.2
Rogers, G.R.3
-
4
-
-
0028947560
-
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
-
Huber M, Rettler I, Bernasconi K, et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science. 1995;267(5197):525-528.
-
(1995)
Science
, vol.267
, Issue.5197
, pp. 525-528
-
-
Huber, M.1
Rettler, I.2
Bernasconi, K.3
-
5
-
-
0033941022
-
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity
-
Fischer J, Faure A, Bouadjar B, et al. Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. Am J Hum Genet. 2000;66(3):904-913.
-
(2000)
Am J Hum Genet
, vol.66
, Issue.3
, pp. 904-913
-
-
Fischer, J.1
Faure, A.2
Bouadjar, B.3
-
6
-
-
10744220980
-
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
-
Lefevre C, Audebert S, Jobard F, et al. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet. 2003;12(18):2369-2378.
-
(2003)
Hum Mol Genet
, vol.12
, Issue.18
, pp. 2369-2378
-
-
Lefevre, C.1
Audebert, S.2
Jobard, F.3
-
7
-
-
33144486941
-
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
-
Lefevre C, Bouadjar B, Ferrand V, et al. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet. 2006;15(5):767-776.
-
(2006)
Hum Mol Genet
, vol.15
, Issue.5
, pp. 767-776
-
-
Lefevre, C.1
Bouadjar, B.2
Ferrand, V.3
-
8
-
-
1542616278
-
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13
-
Klar J, Gedde-Dahl T Jr, Larsson M, et al. Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13. J Med Genet. 2004;41(3):208-212.
-
(2004)
J Med Genet
, vol.41
, Issue.3
, pp. 208-212
-
-
Klar, J.1
Gedde-Dahl Jr, T.2
Larsson, M.3
-
9
-
-
20244379129
-
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
-
Kelsell DP, Norgett EE, Unsworth H, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005;76(5):794-803.
-
(2005)
Am J Hum Genet
, vol.76
, Issue.5
, pp. 794-803
-
-
Kelsell, D.P.1
Norgett, E.E.2
Unsworth, H.3
-
10
-
-
22144437692
-
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
-
Akiyama M, Sugiyama-Nakagiri Y, Sakai K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest. 2005;115(7):1777-1784.
-
(2005)
J Clin Invest
, vol.115
, Issue.7
, pp. 1777-1784
-
-
Akiyama, M.1
Sugiyama-Nakagiri, Y.2
Sakai, K.3
-
11
-
-
0042172877
-
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma
-
Becker K, Csikos M, Sardy M, et al. Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. Exp Dermatol. 2003;12(3):324-329.
-
(2003)
Exp Dermatol
, vol.12
, Issue.3
, pp. 324-329
-
-
Becker, K.1
Csikos, M.2
Sardy, M.3
-
12
-
-
0034764272
-
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
-
Lefevre C, Jobard F, Caux F, et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001;69(5):1002-1010.
-
(2001)
Am J Hum Genet
, vol.69
, Issue.5
, pp. 1002-1010
-
-
Lefevre, C.1
Jobard, F.2
Caux, F.3
-
13
-
-
19544366925
-
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis
-
Lefevre C, Bouadjar B, Karaduman A, et al. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet. 2004;13(20):2473-2482.
-
(2004)
Hum Mol Genet
, vol.13
, Issue.20
, pp. 2473-2482
-
-
Lefevre, C.1
Bouadjar, B.2
Karaduman, A.3
-
14
-
-
18244388249
-
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1
-
Jobard F, Lefevre C, Karaduman A, et al. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet. 2002;11(1):107-113.
-
(2002)
Hum Mol Genet
, vol.11
, Issue.1
, pp. 107-113
-
-
Jobard, F.1
Lefevre, C.2
Karaduman, A.3
-
15
-
-
25444467735
-
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis
-
Eckl K-M, Krieg P, Kuster W, et al. Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005;26(4):351-361.
-
(2005)
Hum Mutat
, vol.26
, Issue.4
, pp. 351-361
-
-
Eckl, K.-M.1
Krieg, P.2
Kuster, W.3
-
16
-
-
33745040761
-
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma
-
Ashoor G, Massé M, García Luciano LM, et al. A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. Br J Dermatol. 2006;155(1):198-200.
-
(2006)
Br J Dermatol
, vol.155
, Issue.1
, pp. 198-200
-
-
Ashoor, G.1
Massé, M.2
García Luciano, L.M.3
-
17
-
-
33947260711
-
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13
-
Lesueur F, Bouadjar B, Lefevre C, et al. Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. J Invest Dermatol. 2007;127(4):829-834.
-
(2007)
J Invest Dermatol
, vol.127
, Issue.4
, pp. 829-834
-
-
Lesueur, F.1
Bouadjar, B.2
Lefevre, C.3
-
18
-
-
0035137616
-
Darier disease-novel mutations in ATP2A2 and genotype-phenotype correlation
-
Ringpfeil F, Raus A, DiGiovanna JJ, et al. Darier disease-novel mutations in ATP2A2 and genotype-phenotype correlation. Exp Dermatol. 2001;10(1):19-27.
-
(2001)
Exp Dermatol
, vol.10
, Issue.1
, pp. 19-27
-
-
Ringpfeil, F.1
Raus, A.2
DiGiovanna, J.J.3
-
19
-
-
0026560698
-
Self-healing collodion baby: Evidence for autosomal recessive inheritance
-
Frenk E, de Techtermann F. Self-healing collodion baby: evidence for autosomal recessive inheritance. Pediatr Dermatol. 1992;9(2):95-97.
-
(1992)
Pediatr Dermatol
, vol.9
, Issue.2
, pp. 95-97
-
-
Frenk, E.1
de Techtermann, F.2
-
20
-
-
0022833031
-
Bébé collodion: Trente-deux nouvelles observations.
-
Larrègue M, Ottavy N, Bressieux JM, et al. Bébé collodion: trente-deux nouvelles observations. Ann Dermatol Venereol. 1986;113(9):773-785.
-
(1986)
Ann Dermatol Venereol
, vol.113
, Issue.9
, pp. 773-785
-
-
Larrègue, M.1
Ottavy, N.2
Bressieux, J.M.3
-
21
-
-
0027295507
-
Collodion baby dehydration: The danger of high transepidermal water loss
-
Buyse L, Graves C, Marks R, et al. Collodion baby dehydration: the danger of high transepidermal water loss. Br J Dermatol. 1993;129(1):86-88.
-
(1993)
Br J Dermatol
, vol.129
, Issue.1
, pp. 86-88
-
-
Buyse, L.1
Graves, C.2
Marks, R.3
-
22
-
-
0036750590
-
Collodion baby: A follow-up study of 17 cases
-
Van Gysel D, Lijnen RL, Moekti SS, de Laat PC, Oranje AP. Collodion baby: a follow-up study of 17 cases. J Eur Acad Dermatol Venereol. 2002;16(5):472-475.
-
(2002)
J Eur Acad Dermatol Venereol
, vol.16
, Issue.5
, pp. 472-475
-
-
Van Gysel, D.1
Lijnen, R.L.2
Moekti, S.S.3
de Laat, P.C.4
Oranje, A.P.5
-
23
-
-
0017611220
-
The keratinization disorder in collodion babies evolving into lamellar ichthyosis
-
Frenk E, Mevorah B. The keratinization disorder in collodion babies evolving into lamellar ichthyosis. J Cutan Pathol. 1977;4(6):329-337.
-
(1977)
J Cutan Pathol
, vol.4
, Issue.6
, pp. 329-337
-
-
Frenk, E.1
Mevorah, B.2
-
24
-
-
0019455722
-
A spontaneously healing collodion baby: A light and electron microscopical study
-
Frenk E. A spontaneously healing collodion baby: a light and electron microscopical study. Acta Derm Venereol. 1981;61(2):168-171.
-
(1981)
Acta Derm Venereol
, vol.61
, Issue.2
, pp. 168-171
-
-
Frenk, E.1
-
25
-
-
0030751058
-
Collodion baby: Ultrastructure and distribution of cornified cell envelope proteins and keratins
-
Akiyama M, Shimizu H, Yoneda K, et al. Collodion baby: ultrastructure and distribution of cornified cell envelope proteins and keratins. Dermatology. 1997;195(2):164-168.
-
(1997)
Dermatology
, vol.195
, Issue.2
, pp. 164-168
-
-
Akiyama, M.1
Shimizu, H.2
Yoneda, K.3
-
26
-
-
0037313061
-
Self-healing collodion baby: A dynamic phenotype explained by a particular transglutaminase-1 mutation
-
Raghunath M, Hennies HC, Ahvazi B, et al. Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol. 2003;120(2):224-228.
-
(2003)
J Invest Dermatol
, vol.120
, Issue.2
, pp. 224-228
-
-
Raghunath, M.1
Hennies, H.C.2
Ahvazi, B.3
-
27
-
-
0031971450
-
Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis
-
Hennies HC, Kuster W, Wiebe V, et al. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. Am J Hum Genet. 1998;62(5):1052-1061.
-
(1998)
Am J Hum Genet
, vol.62
, Issue.5
, pp. 1052-1061
-
-
Hennies, H.C.1
Kuster, W.2
Wiebe, V.3
-
28
-
-
20644442238
-
Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients
-
Kawashima J, Akiyama M, Takizawa Y, et al. Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients. Clin Exp Dermatol. 2005;30(4):429-431.
-
(2005)
Clin Exp Dermatol
, vol.30
, Issue.4
, pp. 429-431
-
-
Kawashima, J.1
Akiyama, M.2
Takizawa, Y.3
-
29
-
-
0034799588
-
Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma
-
Virolainen E, Niemi K-M, Ganemo A, et al. Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma. Br J Dermatol. 2001;145(3):480-483.
-
(2001)
Br J Dermatol
, vol.145
, Issue.3
, pp. 480-483
-
-
Virolainen, E.1
Niemi, K.-M.2
Ganemo, A.3
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