-
1
-
-
0028033095
-
Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis
-
Anton-Lamprecht I: Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis. J Invest Dermatol 103:6S-12S, 1994
-
(1994)
J Invest Dermatol
, vol.103
-
-
Anton-Lamprecht, I.1
-
2
-
-
0015938892
-
Ultrastructure of inborn errors of keratinization. II. Ichthyosis hystrix type Curth-Macklin
-
Anton-Lamprecht I, Ollendorff-Curth H, Schnyder UW: Ultrastructure of inborn errors of keratinization. II. Ichthyosis hystrix type Curth-Macklin. Arch Forsch 246:77-91, 1973
-
(1973)
Arch Forsch
, vol.246
, pp. 77-91
-
-
Anton-Lamprecht, I.1
Ollendorff-Curth, H.2
Schnyder, U.W.3
-
3
-
-
0032930569
-
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
-
Armstrong DKB, McKenna KE, Purkis PE, Green KJ, Eady RAJ, Leigh IM, Hughes AE: Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 8:143-148, 1999
-
(1999)
Hum Mol Genet
, vol.8
, pp. 143-148
-
-
Armstrong, D.K.B.1
McKenna, K.E.2
Purkis, P.E.3
Green, K.J.4
Eady, R.A.J.5
Leigh, I.M.6
Hughes, A.E.7
-
4
-
-
0032837376
-
Nonsense-mediated mRNA decay in health and disease
-
Frischmeyer PA, Dietz HC: Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 8:1893-1900, 1999
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1893-1900
-
-
Frischmeyer, P.A.1
Dietz, H.C.2
-
5
-
-
0035086720
-
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma
-
Hunt DM, Rickman L, Whittock NV, et al: Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet 9:197-203, 2001
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 197-203
-
-
Hunt, D.M.1
Rickman, L.2
Whittock, N.V.3
-
6
-
-
0030045163
-
Immunoelectron microscopic analysis of cornified cell envelope formation in normal and psoriatic epidermis
-
Ishida-Yamamoto A, Eady RAJ, Watt FM, Roop DR, Hohl D, Iizuka H: Immunoelectron microscopic analysis of cornified cell envelope formation in normal and psoriatic epidermis. J Histochem Cytochem 44:167-175, 1996
-
(1996)
J Histochem Cytochem
, vol.44
, pp. 167-175
-
-
Ishida-Yamamoto, A.1
Eady, R.A.J.2
Watt, F.M.3
Roop, D.R.4
Hohl, D.5
Iizuka, H.6
-
7
-
-
0034521297
-
Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma
-
Ishida-Yamamoto A, Kato H, Kiyama H, et al: Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma. J Invest Dermatol 115:1088-1094, 2000
-
(2000)
J Invest Dermatol
, vol.115
, pp. 1088-1094
-
-
Ishida-Yamamoto, A.1
Kato, H.2
Kiyama, H.3
-
8
-
-
0036164873
-
Lessons from disorders of epidermal differentiation-associated keratins
-
Ishida-Yamamoto A, Takahashi H, Iizuka H: Lessons from disorders of epidermal differentiation-associated keratins. Histol Histopathol 17:331-338, 2002
-
(2002)
Histol Histopathol
, vol.17
, pp. 331-338
-
-
Ishida-Yamamoto, A.1
Takahashi, H.2
Iizuka, H.3
-
9
-
-
0029952969
-
Localization of laminin-5 in the epidermal basement membrane
-
Masunaga T, Shimizu H, Ishiko A, Tomita Y, Aberdam D, Ortonne J-P, Nishikawa T: Localization of laminin-5 in the epidermal basement membrane. J Histochem Cytochem 44:1223-1230, 1996
-
(1996)
J Histochem Cytochem
, vol.44
, pp. 1223-1230
-
-
Masunaga, T.1
Shimizu, H.2
Ishiko, A.3
Tomita, Y.4
Aberdam, D.5
Ortonne, J.-P.6
Nishikawa, T.7
-
10
-
-
0025327840
-
Altered keratin expression in ichthyosis hystrix Curth-Macklin. A light and electron microscopic study
-
Niemi KM, Virtanen I, Kanerva L, Muttilainen M: Altered keratin expression in ichthyosis hystrix Curth-Macklin. A light and electron microscopic study. Arch Dermatol Res 282:227-233, 1990
-
(1990)
Arch Dermatol Res
, vol.282
, pp. 227-233
-
-
Niemi, K.M.1
Virtanen, I.2
Kanerva, L.3
Muttilainen, M.4
-
11
-
-
0000132670
-
The genetic basis of various types of ichthyosis in a family group
-
Ollendorff Curth H, Macklin MT: The genetic basis of various types of ichthyosis in a family group. Am J Hum Genet 6:371-382, 1954
-
(1954)
Am J Hum Genet
, vol.6
, pp. 371-382
-
-
Ollendorff Curth, H.1
Macklin, M.T.2
-
12
-
-
0032970153
-
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
-
Rickman L, Simrak D, Stevens HP, et al: N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 8:971-976, 1999
-
(1999)
Hum Mol Genet
, vol.8
, pp. 971-976
-
-
Rickman, L.1
Simrak, D.2
Stevens, H.P.3
-
13
-
-
0035047665
-
Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix
-
Sprecher E, Ishida-Yamamoto A, Becker OM, et al: Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. J Invest Dermatol 116:511-519, 2001
-
(2001)
J Invest Dermatol
, vol.116
, pp. 511-519
-
-
Sprecher, E.1
Ishida-Yamamoto, A.2
Becker, O.M.3
-
14
-
-
0033401667
-
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
-
Whittock NV, Ashton GHS, Dopping-Hepenstal PJC, Gratian MJ, Keane FM, Eady RAJ, McGrath JA: Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 113:940-946, 1999
-
(1999)
J Invest Dermatol
, vol.113
, pp. 940-946
-
-
Whittock, N.V.1
Ashton, G.H.S.2
Dopping-Hepenstal, P.J.C.3
Gratian, M.J.4
Keane, F.M.5
Eady, R.A.J.6
McGrath, J.A.7
-
15
-
-
0036093823
-
Frameshift mutation in the V 2 domain of human keratin 1 results in striate palmoplantar keratoderma
-
Whittock NV, Smith FJ, Wan H, et al: Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol 118:838-844, 2002
-
(2002)
J Invest Dermatol
, vol.118
, pp. 838-844
-
-
Whittock, N.V.1
Smith, F.J.2
Wan, H.3
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