-
1
-
-
0010999037
-
Sur une forme attenuee de la maladie dite ichthyose foetale
-
Hallopeau H, Watelet R. Sur une forme attenuee de la maladie dite ichthyose foetale. Ann Dermatol Syphiligr 1884; 3: 149-152.
-
(1884)
Ann. Dermatol. Syphiligr
, vol.3
, pp. 149-152
-
-
Hallopeau, H.1
Watelet, R.2
-
4
-
-
0030633019
-
New perspectives in type 2 Gaucher disease
-
Sidransky E. New perspectives in type 2 Gaucher disease. Adv Pediatr 1997; 44: 73-93.
-
(1997)
Adv. Pediatr
, vol.44
, pp. 73-93
-
-
Sidransky, E.1
-
5
-
-
0026560698
-
Self-healing collodion: Evidence for autosomal recessive inheritance
-
Frenk E, de Techtermann F. Self-healing collodion: evidence for autosomal recessive inheritance. Pediatr Dermatol 1992; 9: 95-97.
-
(1992)
Pediatr. Dermatol
, vol.9
, pp. 95-97
-
-
Frenk, E.1
de Techtermann, F.2
-
6
-
-
0015307704
-
Lamellar ichthyosis of the newborn. A distinct clinical entity: Its comparison to the other forms of ichthyosiform erythrodermas
-
Reed WB, Hernich RP, Harville D, Porter PS. Lamellar ichthyosis of the newborn. A distinct clinical entity: its comparison to the other forms of ichthyosiform erythrodermas. Arch Dermatol 1972; 105: 395-399.
-
(1972)
Arch. Dermatol
, vol.105
, pp. 395-399
-
-
Reed, W.B.1
Hernich, R.P.2
Harville, D.3
Porter, P.S.4
-
7
-
-
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: 86-88.
-
(1993)
Br. J. Dermatol
, vol.129
, pp. 86-88
-
-
Buyse, L.1
Graves, C.2
Marks, R.3
-
9
-
-
0019455722
-
A spontaneously healing collodion baby; A light and electron microscopial study
-
Frenk E. A spontaneously healing collodion baby; A light and electron microscopial study. Acta Dermatol Venereol 1980; 61: 168-171.
-
(1980)
Acta Dermatol. Venereol
, vol.61
, pp. 168-171
-
-
Frenk, E.1
-
10
-
-
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: 329-337.
-
(1977)
J. Cutan. Pathol
, vol.4
, pp. 329-337
-
-
Frenk, E.1
Mevorah, B.2
-
11
-
-
0030751058
-
Collodion baby: Ultrastructure and distribution of cornified cell envelope proteins and keratins
-
Akyama M, Shimizu H, Yoneda K et al. Collodion baby: ultrastructure and distribution of cornified cell envelope proteins and keratins. Dermatology 1997; 195: 164-168.
-
(1997)
Dermatology
, vol.195
, pp. 164-168
-
-
Akyama, M.1
Shimizu, H.2
Yoneda, K.3
-
12
-
-
0031929953
-
Inability of keratinocytes lacking their specific transglutamase to form cross-linked envelopes: Absence of envelopes as a simple diagnostic test for lamellar ichthyosis
-
Jeon S, Djian P, Green H. Inability of keratinocytes lacking their specific transglutamase to form cross-linked envelopes: absence of envelopes as a simple diagnostic test for lamellar ichthyosis. Proc Natl Acad Sci USA 1998; 95: 687-690.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 687-690
-
-
Jeon, S.1
Djian, P.2
Green, H.3
-
13
-
-
0031092272
-
The human gene mutation database
-
Krawczak M, Cooper DN. The human gene mutation database. Trends Genet 1997; 13: 121-122.
-
(1997)
Trends Genet
, vol.13
, pp. 121-122
-
-
Krawczak, M.1
Cooper, D.N.2
-
14
-
-
0032923714
-
Lamellar ichthyosis: Further narrowing, physical and expression mapping of the chromosome 2 candidate locus
-
Parmentier L, Clepet C, Boughdene-Stambouli O et al. Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus. Eur J Hum Genet 1999; 7: 77-87.
-
(1999)
Eur. J. Hum. Genet
, vol.7
, pp. 77-87
-
-
Parmentier, L.1
Clepet, C.2
Boughdene-Stambouli, O.3
-
15
-
-
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: 904-913.
-
(2000)
Am. J. Hum. Genet
, vol.66
, pp. 904-913
-
-
Fischer, J.1
Faure, A.2
Bouadjar, B.3
-
16
-
-
0033912078
-
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2
-
Virolainen E, Wessman M, Hovatta I et al. Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. Am J Hum Genet 2000; 66: 1132-1137.
-
(2000)
Am. J. Hum. Genet
, vol.66
, pp. 1132-1137
-
-
Virolainen, E.1
Wessman, M.2
Hovatta, I.3
-
17
-
-
0035042785
-
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TMG1 gene
-
Cserhalmi-Friedman PB, Milstone LM, Christiano AM. Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TMG1 gene. Br J Dermatol 2001; 144: 726-730.
-
(2001)
Br. J. Dermatol
, vol.144
, pp. 726-730
-
-
Cserhalmi-Friedman, P.B.1
Milstone, L.M.2
Christiano, A.M.3
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