-
1
-
-
0028817683
-
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
-
L.J. Russell, J.J. DiGiovanna, G.R. Rogers, P.M. Steinert, N. Hashem, J.G. Compton, et al. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis Nat Genet 9 1995 279 283
-
(1995)
Nat Genet
, vol.9
, pp. 279-283
-
-
Russell, L.J.1
Digiovanna, J.J.2
Rogers, G.R.3
Steinert, P.M.4
Hashem, N.5
Compton, J.G.6
-
2
-
-
0028947560
-
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
-
M. Huber, I. Rettler, K. Bernasconi, E. Frenk, S.P. Lavrijsen, M. Ponec, et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis Science 267 1995 525 528
-
(1995)
Science
, vol.267
, pp. 525-528
-
-
Huber, M.1
Rettler, I.2
Bernasconi, K.3
Frenk, E.4
Lavrijsen, S.P.5
Ponec, M.6
-
3
-
-
0034120666
-
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
-
DOI 10.1038/75977
-
S. Chavanas, C. Bodemer, A. Rochat, D. Hamel-Teillac, M. Ali, and J.L. Bonafé Mutations in SPINK5 encoding a serine protease inhibitor, cause Netherton syndrome Nat Genet 25 2000 141 142 (Pubitemid 30394980)
-
(2000)
Nature Genetics
, vol.25
, Issue.2
, pp. 141-142
-
-
Chavanas, S.1
Bodemer, C.2
Rochat, A.3
Hamel-Teillac, D.4
Ali, M.5
Irvine, A.D.6
Bonafe, J.-L.7
Wilkinson, J.8
Taieb, A.9
Barrandon, Y.10
Harper, J.I.11
De Prost, Y.12
Hovnanian, A.13
-
4
-
-
18244388249
-
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1
-
F. Jobard, C. Lefèvre, A. Karaduman, C. Blanchet-Bardon, S. Emre, and J. Weissenbach 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 11 2002 107 113 (Pubitemid 34100773)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.1
, pp. 107-113
-
-
Jobard, F.1
Lefevre, C.2
Karaduman, A.3
Blanchet-Bardon, C.4
Emre, S.5
Weissenbach, J.6
Ozguc, M.7
Lathrop, M.8
Prud'Homme, J.-F.9
Fischer, J.10
-
5
-
-
0034764272
-
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
-
DOI 10.1086/324121
-
C. Lefèvre, F. Jobard, F. Caux, B. Bouadjar, A. Karaduman, and R. Heilig Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome Am J Hum Genet 69 2001 1002 1012 (Pubitemid 33015815)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.5
, pp. 1002-1012
-
-
Lefevre, C.1
Jobard, F.2
Caux, F.3
Bouadjar, B.4
Karaduman, A.5
Heilig, R.6
Lakhdar, H.7
Wollenberg, A.8
Verret, J.-L.9
Weissenbach, J.10
Ozguc, M.11
Lathrop, M.12
Prud'Homme, J.-F.13
Fischer, J.14
-
6
-
-
19544366925
-
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis
-
DOI 10.1093/hmg/ddh263
-
C. Lefèvre, B. Bouadjar, A. Karaduman, F. Jobard, S. Saker, and M. Ozguc Mutations in Ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis Hum Mol Genet 20 2004 2473 2482 (Pubitemid 39377851)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.20
, pp. 2473-2482
-
-
Lefevre, C.1
Bouadjar, B.2
Karaduman, A.3
Jobard, F.4
Saker, S.5
Ozguc, M.6
Lathrop, M.7
Prud'Homme, J.-F.8
Fischer, J.9
-
7
-
-
10744220980
-
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
-
DOI 10.1093/hmg/ddg235
-
C. Lefèvre, S. Audebert, F. Jobard, B. Bouadjar, H. Lakhdar, and O. Boughdene-Stambouli Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 Hum Mol Genet 18 2003 2369 2378 (Pubitemid 37160881)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.18
, pp. 2369-2378
-
-
Lefevre, C.1
Audebert, S.2
Jobard, F.3
Bouadjar, B.4
Lakhdar, H.5
Boughdene-Stambouli, O.6
Blanchet-Bardon, C.7
Heilig, R.8
Foglio, M.9
Weissenbach, J.10
Lathrop, M.11
Prud'Homme, J.-F.12
Fischer, J.13
-
8
-
-
33144486941
-
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
-
DOI 10.1093/hmg/ddi491
-
C. Lefèvre, B. Bouadjar, V. Ferrand, G. Tadini, A. Mégarbané, and M. Lathrop Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3 Hum Mol Genet 15 2006 767 776 (Pubitemid 43264701)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.5
, pp. 767-776
-
-
Lefevre, C.1
Bouadjar, B.2
Ferrand, V.3
Tadini, G.4
Megarbane, A.5
Lathrop, M.6
Prud'Homme, J.-F.7
Fischer, J.8
-
9
-
-
7644230747
-
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease
-
DOI 10.1053/j.gastro.2004.07.022, PII S0016508504013307
-
S. Hadj-Rabia, L. Baala, P. Vabres, D. Hamel-Teillac, E. Jacquemin, and M. Fabre Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease Gastroenterology 127 2004 1386 1390 (Pubitemid 39457765)
-
(2004)
Gastroenterology
, vol.127
, Issue.5
, pp. 1386-1390
-
-
Hadj-Rabia, S.1
Baala, L.2
Vabres, P.3
Hamel-Teillac, D.4
Jacquemin, E.5
Fabre, M.6
Lyonnet, S.7
De Prost, Y.8
Munnich, A.9
Hadchouel, M.10
Smahi, A.11
-
10
-
-
0037313061
-
Self-healing collodion baby: A dynamic phenotype explained by a particular transglutaminase-1 mutation
-
DOI 10.1046/j.1523-1747.2003.12032.x
-
M. Raghunath, H.C. Hennies, B. Ahvazi, M. Vogel, A. Reis, and P.M. Steinert Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation J Invest Dermatol 120 2003 224 228 (Pubitemid 36513071)
-
(2003)
Journal of Investigative Dermatology
, vol.120
, Issue.2
, pp. 224-228
-
-
Raghunath, M.1
Hennies, H.-C.2
Ahvazi, B.3
Vogel, M.4
Reis, A.5
Steinert, P.M.6
Traupe, H.7
-
11
-
-
85083124905
-
Acral self-healing collodion baby: Report of a new clinical phenotype caused by a peculiar TGM1 mutation
-
in press
-
Mazereeuw-Hautier J, Aufenvenne K, Deraison C, Ahvazi B, Oji V, Traupe H, Hovnanian A. Acral self-healing collodion baby: report of a new clinical phenotype caused by a peculiar TGM1 mutation. Br J Dermatol (in press).
-
Br J Dermatol
-
-
Mazereeuw-Hautier, J.1
Aufenvenne, K.2
Deraison, C.3
Ahvazi, B.4
Oji, V.5
Traupe, H.6
Hovnanian, A.7
-
12
-
-
41149096095
-
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene
-
M. Harting, N. Brunetti-Pierri, C.S. Chan, J. Kirby, M.K. Dishop, G. Richard, et al. Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene Arch Dermatol 144 2008 351 356
-
(2008)
Arch Dermatol
, vol.144
, pp. 351-356
-
-
Harting, M.1
Brunetti-Pierri, N.2
Chan, C.S.3
Kirby, J.4
Dishop, M.K.5
Richard, G.6
-
13
-
-
33750220685
-
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: Evidence for a temperature-sensitive phenotype
-
DOI 10.1093/hmg/ddl249
-
V. Oji, J.M. Hautier, B. Ahvazi, I. Hausser, K. Aufenvenne, and T. Walker Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature sensitive phenotype Hum Mol Genet 15 2006 3083 3097 (Pubitemid 44605491)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.21
, pp. 3083-3097
-
-
Oji, V.1
Hautier, J.M.2
Ahvazi, B.3
Hausser, I.4
Aufenvenne, K.5
Walker, T.6
Seller, N.7
Steijlen, P.M.8
Kuster, W.9
Hovnanian, A.10
Hennies, H.C.11
Traupe, H.12
-
14
-
-
20244379129
-
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
-
DOI 10.1086/429844
-
D.P. Kelsell, E.E. Norgettt, H. Unsworth, M.T. Teh, T. Cullup, and C.A. Mein Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis Am J Hum Genet 76 2005 794 803 (Pubitemid 40563101)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.5
, pp. 794-803
-
-
Kelsell, D.P.1
Norgett, E.E.2
Unsworth, H.3
Teh, M.-T.4
Cullup, T.5
Mein, C.A.6
Dopping-Hepenstal, P.J.7
Dale, B.A.8
Tadini, G.9
Fleckman, P.10
Stephens, K.G.11
Sybert, V.P.12
Mallory, S.B.13
North, B.V.14
Witt, D.R.15
Sprecher, E.16
Taylor, A.E.M.17
Ilchyshyn, A.18
Kennedy, C.T.19
Goodyear, H.20
Moss, C.21
Paige, D.22
Harper, J.I.23
Young, B.D.24
Leigh, I.M.25
Eady, R.A.J.26
O'Toole, E.A.27
more..
-
16
-
-
10744224015
-
LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome
-
DOI 10.1093/hmg/ddg247
-
E. Bitoun, A. Micheloni, L. Lamant, C. Bonnart, A. Tartaglia-Polcini, and C. Cobbold LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome Hum Mol Genet 19 2003 2417 2430 (Pubitemid 37220407)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.19
, pp. 2417-2430
-
-
Bitoun, E.1
Micheloni, A.2
Lamant, L.3
Bonnart, C.4
Tartaglia-Polcini, A.5
Cobbold, C.6
Al Saati, T.7
Mariotti, F.8
Mazareeuw-Hautier, J.9
Boralevi, F.10
Hohl, D.11
Harper, J.12
Bodemer, C.13
D'Alessio, M.14
Hovnanian, A.15
-
17
-
-
0034978116
-
Significant absorption of topical tacrolimus in 3 patients with Netherton syndrome
-
A. Allen, E. Siegfried, R. Silverman, M.L. Williams, P.M. Elias, and S.K. Szabo Significant absorption of topical tacrolimus in 3 patients with Netherton syndrome Arch Dermatol 137 2001 747 750 (Pubitemid 32577856)
-
(2001)
Archives of Dermatology
, vol.137
, Issue.6
, pp. 747-750
-
-
Allen, A.1
Siegfried, E.2
Silverman, R.3
Williams, M.L.4
Elias, P.M.5
Szabo, S.K.6
Korman, N.J.7
-
18
-
-
0042635547
-
Topical treatment of Netherton's syndrome with tacrolimus ointment without significant systemic absorption [19]
-
DOI 10.1046/j.1365-2133.2003.05443.x
-
G. Bens, F. Boralevi, C. Buzenet, and A. Taïeb Topical treatment of Netherton's syndrome with tacrolimus ointment without significant systemic absorption Br J Dermatol 149 2003 224 226 (Pubitemid 36966553)
-
(2003)
British Journal of Dermatology
, vol.149
, Issue.1
, pp. 224-226
-
-
Bens, G.1
Boralevi, F.2
Buzenet, C.3
Taieb, A.4
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