-
1
-
-
0002381803
-
Diagnostic ultrastructural of non-neoplastic diseases
-
J. Papadimitriou, D.W. Henderson, D.V. Spagnolo, Churchill and Livingstone Edinburgh
-
I. Anton-Lamprecht Diagnostic ultrastructural of non-neoplastic diseases J. Papadimitriou, D.W. Henderson, D.V. Spagnolo, The skin 1992 Churchill and Livingstone Edinburgh 459 550
-
(1992)
The Skin
, pp. 459-550
-
-
Anton-Lamprecht, I.1
-
2
-
-
1542616278
-
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13
-
J. Klar, T. Gedde-Dahl Jr., M. Larsson, M. Pigg, B. Carlsson, and D. Tentler Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13 J Med Genet 41 2004 208 212
-
(2004)
J Med Genet
, vol.41
, pp. 208-212
-
-
Klar, J.1
Gedde-Dahl Jr., T.2
Larsson, M.3
Pigg, M.4
Carlsson, B.5
Tentler, D.6
-
3
-
-
68249128695
-
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome
-
J. Klar, M. Schweiger, R. Zimmerman, R. Zechner, H. Li, and H. Torma Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome Am J Hum Genet 85 2009 248 253
-
(2009)
Am J Hum Genet
, vol.85
, pp. 248-253
-
-
Klar, J.1
Schweiger, M.2
Zimmerman, R.3
Zechner, R.4
Li, H.5
Torma, H.6
-
4
-
-
53349117712
-
Ichthyosis prematurity syndrome: A well-defined congenital ichthyosis subtype
-
A. Bygum, P. Westermark, and F. Brandrup Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype J Am Acad Dermatol 59 Suppl 2008 S71 S74
-
(2008)
J Am Acad Dermatol
, vol.59
, Issue.SUPPL.
-
-
Bygum, A.1
Westermark, P.2
Brandrup, F.3
-
6
-
-
0031050854
-
Ichthyosis congenita type IV: A new case resembling diffuse cutaneous mastocytosis
-
A. Brusasco, C. Gelmetti, G. Tadini, and R. Caputo Ichthyosis congenita type IV: a new case resembling diffuse cutaneous mastocytosis Br J Dermatol 136 1997 377 379
-
(1997)
Br J Dermatol
, vol.136
, pp. 377-379
-
-
Brusasco, A.1
Gelmetti, C.2
Tadini, G.3
Caputo, R.4
-
7
-
-
84859435209
-
Prenatal sonographic assessment and perinatal course of ichthyosis prematurity syndrome
-
doi: 10.1002/uog.9014. Published online April 4
-
Blaas H, Salvesen K, Khnykin D, Jahnsen F, Eik-Nes S. Prenatal sonographic assessment and perinatal course of ichthyosis prematurity syndrome. Ultrasound Obstet Gynecol doi: 10.1002/uog.9014. Published online April 4, 2011.
-
(2011)
Ultrasound Obstet Gynecol
-
-
Blaas, H.1
Salvesen, K.2
Khnykin, D.3
Jahnsen, F.4
Eik-Nes, S.5
-
8
-
-
66049125101
-
Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome
-
A. Briot, C. Deraison, M. Lacroix, C. Bonnart, A. Robin, and C. Besson Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome J Exp Med 206 2009 1135 1147
-
(2009)
J Exp Med
, vol.206
, pp. 1135-1147
-
-
Briot, A.1
Deraison, C.2
Lacroix, M.3
Bonnart, C.4
Robin, A.5
Besson, C.6
-
9
-
-
33645399288
-
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
-
C.N. Palmer, A.D. Irvine, A. Terron-Kwiatkowski, Y. Zhao, H. Liao, and S.P. Lee Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis Nat Genet 38 2006 441 446
-
(2006)
Nat Genet
, vol.38
, pp. 441-446
-
-
Palmer, C.N.1
Irvine, A.D.2
Terron-Kwiatkowski, A.3
Zhao, Y.4
Liao, H.5
Lee, S.P.6
-
10
-
-
77952700774
-
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009
-
V. Oji, G. Tadini, M. Akiyama, C.B. Bardon, C. Bodemer, and E. Bourrat Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009 J Am Acad Dermatol 63 2010 607 641
-
(2010)
J Am Acad Dermatol
, vol.63
, pp. 607-641
-
-
Oji, V.1
Tadini, G.2
Akiyama, M.3
Bardon, C.B.4
Bodemer, C.5
Bourrat, E.6
-
11
-
-
79959404734
-
Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German infant
-
O. Inhoff, I. Hausser, S.W. Schneider, D. Khnykin, F.L. Jahnsen, J. Sartoris, S. Goerdt, and W.K. Peitsch Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German infant Arch Dermatol 147 2011 750 752
-
(2011)
Arch Dermatol
, vol.147
, pp. 750-752
-
-
Inhoff, O.1
Hausser, I.2
Schneider, S.W.3
Khnykin, D.4
Jahnsen, F.L.5
Sartoris, J.6
Goerdt, S.7
Peitsch, W.K.8
-
12
-
-
78349247517
-
A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis
-
F. Morice-Picard, C. Leaute-Labreze, A. Decor, F. Boralevi, D. Lacombe, and A. Taieb A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis Am J Med Genet 152A 2010 2664 2665
-
(2010)
Am J Med Genet
, vol.152 A
, pp. 2664-2665
-
-
Morice-Picard, F.1
Leaute-Labreze, C.2
Decor, A.3
Boralevi, F.4
Lacombe, D.5
Taieb, A.6
-
13
-
-
0037627582
-
Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development
-
C.L. Moulson, D.R. Martin, J.J. Lugus, J.E. Schaffer, A.C. Lind, and J.H. Miner Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development Proc Natl Acad Sci U S A 100 2003 5274 5279
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 5274-5279
-
-
Moulson, C.L.1
Martin, D.R.2
Lugus, J.J.3
Schaffer, J.E.4
Lind, A.C.5
Miner, J.H.6
-
14
-
-
34447511625
-
Keratinocyte-specific expression of fatty acid transport protein 4 rescues the wrinkle-free phenotype in Slc27a4/Fatp4 mutant mice
-
C.L. Moulson, M.H. Lin, J.M. White, E.P. Newberry, N.O. Davidson, and J.H. Miner Keratinocyte-specific expression of fatty acid transport protein 4 rescues the wrinkle-free phenotype in Slc27a4/Fatp4 mutant mice J Biol Chem 282 2007 15912 15920
-
(2007)
J Biol Chem
, vol.282
, pp. 15912-15920
-
-
Moulson, C.L.1
Lin, M.H.2
White, J.M.3
Newberry, E.P.4
Davidson, N.O.5
Miner, J.H.6
-
15
-
-
33644816485
-
Disturbed epidermal structure in mice with temporally controlled fatp4 deficiency
-
T. Herrmann, H.J. Grone, L. Langbein, I. Kaiser, I. Gosch, and U. Bennemann Disturbed epidermal structure in mice with temporally controlled fatp4 deficiency J Invest Dermatol 125 2005 1228 1235
-
(2005)
J Invest Dermatol
, vol.125
, pp. 1228-1235
-
-
Herrmann, T.1
Grone, H.J.2
Langbein, L.3
Kaiser, I.4
Gosch, I.5
Bennemann, U.6
-
16
-
-
33644829484
-
Differential expression of fatty acid transport proteins in epidermis and skin appendages
-
M. Schmuth, A.M. Ortegon, M. Mao-Qiang, P.M. Elias, K.R. Feingold, and A. Stahl Differential expression of fatty acid transport proteins in epidermis and skin appendages J Invest Dermatol 125 2005 1174 1181
-
(2005)
J Invest Dermatol
, vol.125
, pp. 1174-1181
-
-
Schmuth, M.1
Ortegon, A.M.2
Mao-Qiang, M.3
Elias, P.M.4
Feingold, K.R.5
Stahl, A.6
-
17
-
-
44949151890
-
Pathogenesis of permeability barrier abnormalities in the ichthyoses: Inherited disorders of lipid metabolism
-
P.M. Elias, M.L. Williams, W.M. Holleran, Y.J. Jiang, and M. Schmuth Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism J Lipid Res 49 2008 697 714
-
(2008)
J Lipid Res
, vol.49
, pp. 697-714
-
-
Elias, P.M.1
Williams, M.L.2
Holleran, W.M.3
Jiang, Y.J.4
Schmuth, M.5
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