-
1
-
-
77952700774
-
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009
-
Oji V, Tadini G, Akiyama M, et al,. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. J Am Acad Dermatol 2010; 63: 607-41.
-
(2010)
J Am Acad Dermatol
, vol.63
, pp. 607-641
-
-
Oji, V.1
Tadini, G.2
Akiyama, M.3
-
2
-
-
84866515270
-
Incidence of moderate to severe ichthyosis in the United States
-
Milstone LM, Miller K, Haberman M, Dickens J,. Incidence of moderate to severe ichthyosis in the United States. Arch Dermatol 2012; 148: 1080-1.
-
(2012)
Arch Dermatol
, vol.148
, pp. 1080-1081
-
-
Milstone, L.M.1
Miller, K.2
Haberman, M.3
Dickens, J.4
-
3
-
-
84862123574
-
Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain
-
Hernandez-Martin A, Garcia-Doval I, Aranegui B, et al,. Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain. J Am Acad Dermatol 2012; 67: 240-4.
-
(2012)
J Am Acad Dermatol
, vol.67
, pp. 240-244
-
-
Hernandez-Martin, A.1
Garcia-Doval, I.2
Aranegui, B.3
-
4
-
-
77954833883
-
Annual direct and indirect health costs of the congenital ichthyoses
-
Styperek AR, Rice ZP, Kamalpour L, et al,. Annual direct and indirect health costs of the congenital ichthyoses. Pediatr Dermatol 2010; 27: 325-36.
-
(2010)
Pediatr Dermatol
, vol.27
, pp. 325-336
-
-
Styperek, A.R.1
Rice, Z.P.2
Kamalpour, L.3
-
5
-
-
0037228320
-
Recommendations for introducing genetics services in developing countries
-
Alwan A, Modell B,. Recommendations for introducing genetics services in developing countries. Nat Rev Genet 2003; 4: 61-8.
-
(2003)
Nat Rev Genet
, vol.4
, pp. 61-68
-
-
Alwan, A.1
Modell, B.2
-
6
-
-
17144371855
-
The cornified envelope: A model of cell death in the skin
-
Candi E, Schmidt R, Melino G,. The cornified envelope: a model of cell death in the skin. Nat Rev Mol Cell Biol 2005; 6: 328-40.
-
(2005)
Nat Rev Mol Cell Biol
, vol.6
, pp. 328-340
-
-
Candi, E.1
Schmidt, R.2
Melino, G.3
-
7
-
-
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: 525-8.
-
(1995)
Science
, vol.267
, pp. 525-528
-
-
Huber, M.1
Rettler, I.2
Bernasconi, K.3
-
8
-
-
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: 2369-78.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2369-2378
-
-
Lefevre, C.1
Audebert, S.2
Jobard, F.3
-
9
-
-
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: 1777-84.
-
(2005)
J Clin Invest
, vol.115
, pp. 1777-1784
-
-
Akiyama, M.1
Sugiyama-Nakagiri, Y.2
Sakai, K.3
-
10
-
-
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: 794-803.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 794-803
-
-
Kelsell, D.P.1
Norgett, E.E.2
Unsworth, H.3
-
11
-
-
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: 2473-82.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2473-2482
-
-
Lefevre, C.1
Bouadjar, B.2
Karaduman, A.3
-
12
-
-
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: 767-76.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 767-776
-
-
Lefevre, C.1
Bouadjar, B.2
Ferrand, V.3
-
13
-
-
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: 107-13.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 107-113
-
-
Jobard, F.1
Lefevre, C.2
Karaduman, A.3
-
14
-
-
79953711111
-
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis
-
Israeli S, Khamaysi Z, Fuchs-Telem D, et al,. A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet 2011; 88: 482-7.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 482-487
-
-
Israeli, S.1
Khamaysi, Z.2
Fuchs-Telem, D.3
-
15
-
-
84856241736
-
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
-
Grall A, Guaguere E, Planchais S, et al,. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet 2012; 44: 140-7.
-
(2012)
Nat Genet
, vol.44
, pp. 140-147
-
-
Grall, A.1
Guaguere, E.2
Planchais, S.3
-
16
-
-
66149155333
-
Autosomal recessive congenital ichthyosis
-
Fischer J,. Autosomal recessive congenital ichthyosis. J Invest Dermatol 2009; 129: 1319-21.
-
(2009)
J Invest Dermatol
, vol.129
, pp. 1319-1321
-
-
Fischer, J.1
-
17
-
-
33747036712
-
Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations
-
Mizrachi-Koren M, Shemer S, Morgan M, et al,. Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. J Am Acad Dermatol 2006; 55: 393-401.
-
(2006)
J Am Acad Dermatol
, vol.55
, pp. 393-401
-
-
Mizrachi-Koren, M.1
Shemer, S.2
Morgan, M.3
-
18
-
-
33645033174
-
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population
-
Abu Sa'd J, Indelman M, Pfendner E, et al,. Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. J Invest Dermatol 2006; 126: 777-81.
-
(2006)
J Invest Dermatol
, vol.126
, pp. 777-781
-
-
Abu Sa'D, J.1
Indelman, M.2
Pfendner, E.3
-
19
-
-
38349151325
-
Rapid detection of homozygous mutations in congenital recessive ichthyosis
-
Lugassy J, Hennies HC, Indelman M, et al,. Rapid detection of homozygous mutations in congenital recessive ichthyosis. Arch Dermatol Res, 2008; 300: 81-5.
-
(2008)
Arch Dermatol Res
, vol.300
, pp. 81-85
-
-
Lugassy, J.1
Hennies, H.C.2
Indelman, M.3
-
20
-
-
77952532540
-
Epidermolysis bullosa care in Israel
-
xv.
-
Sprecher E,. Epidermolysis bullosa care in Israel. Dermatol Clin 2012; 28: 429-30, xv.
-
(2012)
Dermatol Clin
, vol.28
, pp. 429-430
-
-
Sprecher, E.1
-
21
-
-
0037386726
-
Epidermolysis bullosa simplex in Israel: Clinical and genetic features
-
Ciubotaru D, Bergman R, Baty D, et al,. Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol 2003; 139: 498-505.
-
(2003)
Arch Dermatol
, vol.139
, pp. 498-505
-
-
Ciubotaru, D.1
Bergman, R.2
Baty, D.3
-
22
-
-
27144452100
-
Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13
-
Mizrachi-Koren M, Geiger D, Indelman M,. Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13. J Invest Dermatol 2005; 125: 456-62.
-
(2005)
J Invest Dermatol
, vol.125
, pp. 456-462
-
-
Mizrachi-Koren, M.1
Geiger, D.2
Indelman, M.3
-
23
-
-
67349228543
-
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: Evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B
-
Eckl KM, de Juanes S, Kurtenbach J, et al,. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol 2009; 129: 1421-8.
-
(2009)
J Invest Dermatol
, vol.129
, pp. 1421-1428
-
-
Eckl, K.M.1
De Juanes, S.2
Kurtenbach, J.3
|