-
4
-
-
0030459791
-
Meleda disease: Report of two cases investigated by electron microscopy
-
Frenk E, Guggisberg D, Mevorah B et al. Meleda disease: report of two cases investigated by electron microscopy. Dermatology 1996: 193: 358-361.
-
(1996)
Dermatology
, vol.193
, pp. 358-361
-
-
Frenk, E.1
Guggisberg, D.2
Mevorah, B.3
-
5
-
-
0037209241
-
Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates
-
Eckl KM, Stevens HP, Lestringant GG et al. Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet 2003: 112: 50-56.
-
(2003)
Hum. Genet.
, vol.112
, pp. 50-56
-
-
Eckl, K.M.1
Stevens, H.P.2
Lestringant, G.G.3
-
6
-
-
0035030647
-
Homozygosity at chromosome 8qter in individuals affected by Mal de Meleda (Meleda disease) originating from island of Meleda
-
Patel H, Nardelli M, Fenn T et al. Homozygosity at chromosome 8qter in individuals affected by Mal de Meleda (Meleda disease) originating from island of Meleda. Br J Dermatol 2001: 144: 731-734.
-
(2001)
Br. J. Dermatol.
, vol.144
, pp. 731-734
-
-
Patel, H.1
Nardelli, M.2
Fenn, T.3
-
7
-
-
0036975939
-
Mal de Meleda: Genetic haplotype analysis and clinicopathological findings in cases originating from the island of Mljet (Meleda), Croatia
-
Bakija-Konsuo A, Basta-Juzbasic A, Rudan I et al. Mal de Meleda: genetic haplotype analysis and clinicopathological findings in cases originating from the island of Mljet (Meleda), Croatia. Dermatology 2002: 205: 32-39.
-
(2002)
Dermatology
, vol.205
, pp. 32-39
-
-
Bakija-Konsuo, A.1
Basta-Juzbasic, A.2
Rudan, I.3
-
8
-
-
0023146009
-
Kératodermie palmoplantaire type Meleda à propos de dix neufs cas
-
Zahaf A, Charfi C, Baklouti A. Kératodermie palmoplantaire type Meleda à propos de dix neufs cas. Sem Hôp Paris 1987: 63: 1043-1046.
-
(1987)
Sem. Hôp Paris
, vol.63
, pp. 1043-1046
-
-
Zahaf, A.1
Charfi, C.2
Baklouti, A.3
-
9
-
-
0031009031
-
Mal de Meleda: A report of four cases from the United Arab Emirates
-
Lestringant GG, Frossard PM, Adeghate E et al. Mal de Meleda: a report of four cases from the United Arab Emirates. Pediatr Dermatol 1997: 14: 186-191.
-
(1997)
Pediatr. Dermatol.
, vol.14
, pp. 186-191
-
-
Lestringant, G.G.1
Frossard, P.M.2
Adeghate, E.3
-
10
-
-
0033769957
-
Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda
-
Bouadjar B, Benmazouzia S, Prud'homme JF et al. Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda. Arch Dermatol 2000: 36: 1247-1252.
-
(2000)
Arch. Dermatol.
, vol.36
, pp. 1247-1252
-
-
Bouadjar, B.1
Benmazouzia, S.2
Prud'homme, J.F.3
-
11
-
-
0032435195
-
Genetic linkage of Meleda disease to chromosome 8qter
-
Fischer J, Bouadjar B, Heilig R et al. Genetic linkage of Meleda disease to chromosome 8qter. Eur J Hum Genet 1998: 6: 542-547.
-
(1998)
Eur. J. Hum. Genet.
, vol.6
, pp. 542-547
-
-
Fischer, J.1
Bouadjar, B.2
Heilig, R.3
-
12
-
-
0035311667
-
Mutations in the gene encoding SLURP-1 in Mal de Meleda
-
Fischer J, Bouadjar B, Heilig R et al. Mutations in the gene encoding SLURP-1 in Mal de Meleda. Hum Mol Genet 2001: 10: 875-880.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 875-880
-
-
Fischer, J.1
Bouadjar, B.2
Heilig, R.3
-
13
-
-
9144265810
-
Novel missense mutations in the gene encoding SLURP-1 in patients with Mal de Meleda from Northern Tunisia
-
Charfeddine C, Mokni M, Ben Mousli R et al. Novel missense mutations in the gene encoding SLURP-1 in patients with Mal de Meleda from Northern Tunisia. Br J Dermatol (2003: 148: 1108-1115.
-
(2003)
Br. J. Dermatol.
, vol.148
, pp. 1108-1115
-
-
Charfeddine, C.1
Mokni, M.2
Ben Mousli, R.3
-
14
-
-
0030952126
-
Heterozygous manifestations in the heritable disorders of the skeleton
-
Beighton P. Heterozygous manifestations in the heritable disorders of the skeleton. Pediatr Radiol 1997: 27: 397-401.
-
(1997)
Pediatr. Radiol.
, vol.27
, pp. 397-401
-
-
Beighton, P.1
-
16
-
-
0035499026
-
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin
-
Protonotarios N, Tsatsopoulou A, Anastasakis A et al. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol 2001: 38: 1477-1484.
-
(2001)
J. Am. Coll. Cardiol.
, vol.38
, pp. 1477-1484
-
-
Protonotarios, N.1
Tsatsopoulou, A.2
Anastasakis, A.3
-
17
-
-
0036885985
-
Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree
-
Starling A, Rocco P, Passos-Bueno MR et al. Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree. J Med Genet 2002: 39: e77.
-
(2002)
J. Med. Genet.
, vol.39
-
-
Starling, A.1
Rocco, P.2
Passos-Bueno, M.R.3
-
18
-
-
0035065510
-
Retrotransposons as epigenetic mediators of phenotypic variation in mammals
-
Whitelaw E, Martin DI. Retrotransposons as epigenetic mediators of phenotypic variation in mammals. Nat Genet 2001: 27: 361-365.
-
(2001)
Nat. Genet.
, vol.27
, pp. 361-365
-
-
Whitelaw, E.1
Martin, D.I.2
-
19
-
-
0033799531
-
Modifier genes convert "simple" Mendelian disorders to complex traits
-
Dipple KM, McCabe ER. Modifier genes convert "simple" Mendelian disorders to complex traits. Mol Genet Metab 2000: 71: 43-50.
-
(2000)
Mol. Genet. Metab.
, vol.71
, pp. 43-50
-
-
Dipple, K.M.1
McCabe, E.R.2
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