X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1228) 1228
Book Review (153) 153
Publication (62) 62
Book Chapter (8) 8
Magazine Article (5) 5
Conference Proceeding (1) 1
Dissertation (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (994) 994
index medicus (762) 762
lamellar ichthyosis (451) 451
ichthyosis (439) 439
dermatology (380) 380
female (357) 357
male (343) 343
ichthyosis, lamellar (292) 292
infant, newborn (237) 237
ichthyosis, lamellar - genetics (232) 232
old medline (216) 216
skin (194) 194
mutation (189) 189
animals (173) 173
child (167) 167
infant (159) 159
adult (157) 157
ichthyosis, lamellar - pathology (137) 137
mutations (134) 134
harlequin ichthyosis (123) 123
transglutaminases - genetics (119) 119
ichthyosis, lamellar - diagnosis (118) 118
cell biology (112) 112
adolescent (102) 102
gene (98) 98
mice (97) 97
expression (96) 96
skin - pathology (96) 96
genetics & heredity (94) 94
dermatology & venereal diseases (93) 93
keratinocyte transglutaminase (93) 93
child, preschool (92) 92
phenotype (90) 90
biochemistry & molecular biology (86) 86
genetic aspects (85) 85
ichthyosis - genetics (83) 83
pedigree (83) 83
genetic disorders (77) 77
ichthyosis, lamellar - complications (77) 77
pediatrics (76) 76
epidermis - metabolism (72) 72
biochemistry (70) 70
molecular biology (69) 69
atp-binding cassette transporters - genetics (68) 68
differentiation (68) 68
skin diseases (67) 67
proteins (66) 66
epidermis (64) 64
recessive congenital ichthyosis (64) 64
erythroderma (63) 63
middle aged (62) 62
transglutaminases - metabolism (60) 60
ichthyosis, lamellar - drug therapy (59) 59
analysis (58) 58
cells, cultured (58) 58
cornified cell-envelope (58) 58
dna mutational analysis (57) 57
genes, recessive (57) 57
ichthyosiform erythroderma, congenital - genetics (57) 57
ichthyosis - pathology (57) 57
stratum-corneum (56) 56
keratinocytes - metabolism (55) 55
transglutaminase (55) 55
identification (53) 53
abridged index medicus (52) 52
barrier function (51) 51
epidermis - pathology (50) 50
consanguinity (49) 49
diagnosis (49) 49
diagnosis, differential (49) 49
research (49) 49
skin - metabolism (49) 49
syndrome (49) 49
lipids (48) 48
pregnancy (47) 47
lamellar granules (45) 45
keratinocytes (44) 44
genetics (43) 43
microscopy, electron (43) 43
genes (42) 42
abca12 (41) 41
homozygote (41) 41
molecular sequence data (41) 41
pathology (41) 41
permeability (41) 41
care and treatment (40) 40
disease (40) 40
genotype (40) 40
stratum corneum (40) 40
article (39) 39
atopic-dermatitis (39) 39
biopsy (38) 38
ichthyosis, lamellar - therapy (38) 38
permeability barrier (38) 38
transporter abca12 (38) 38
collodion baby (37) 37
congenital ichthyosiform erythroderma (37) 37
enzymes (37) 37
netherton-syndrome (37) 37
skin - ultrastructure (37) 37
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (1031) 1031
French (64) 64
German (61) 61
Spanish (17) 17
Italian (15) 15
Polish (10) 10
Japanese (7) 7
Korean (6) 6
Czech (5) 5
Russian (5) 5
Dutch (4) 4
Chinese (3) 3
Portuguese (3) 3
Turkish (3) 3
Swedish (2) 2
Azerbaijani (1) 1
Catalan (1) 1
Croatian (1) 1
Danish (1) 1
Greek (1) 1
Hungarian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Investigative Dermatology, ISSN 0022-202X, 06/2009, Volume 129, Issue 6, pp. 1319 - 1321
Recent progress in the genetics of autosomal recessive congenital ichthyosis (ARCI) has illustrated the power of genetic strategies for the investigation of... 
ALOX12B | MUTATIONS | GENE | EPIDERMIS | LAMELLAR ICHTHYOSIS | DERMATOLOGY | Phenotype | Ichthyosiform Erythroderma, Congenital - diagnosis | DNA Mutational Analysis | Humans | Genotype | Mutation | Genes, Recessive | Infant, Newborn | Skin - pathology | Ichthyosiform Erythroderma, Congenital - genetics | Polymorphism, Genetic | Index Medicus
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2018
Background: Autosomal recessive congenital ichthyosis (ARCI) and ichthyosis syndrome (IS) are rare genetic skin disorders. Objective: To estimate the number of... 
epidemiology | nonbullous congenital ichthyosiform erythroderma | ichthyosis syndrome | nationwide survey | harlequin ichthyosis | congenital ichthyosiform erythroderma | lamellar ichthyosis | autosomal recessive congenital ichthyosis
Journal Article
Dermatology (Actas Dermo-Sifiliográficas, English Edition), ISSN 1578-2190, 2011, Volume 104, Issue 4, pp. 270 - 284
Journal Article
Journal Article
Acta Dermato-Venereologica, ISSN 0001-5555, 11/2016, Volume 96, Issue 7, pp. 932 - 937
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 152 - 165
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 7175 - 10
An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabi. Recently, the same... 
HUMANS | HAPLOTYPE | BRCA1 | LINKAGE | MULTIDISCIPLINARY SCIENCES | LAMELLAR ICHTHYOSIS | Haplotypes | Cultural characteristics | Population growth | Genetic diversity | Mutation | Founder effect | Ichthyosis
Journal Article
Journal Article
ANALES DE PEDIATRIA, ISSN 1695-4033, 04/2014, Volume 80, Issue 4, pp. 263 - 263
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 10/2016, Volume 136, Issue 10, pp. 1941 - 1943
Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized by the development of white,... 
REVERSION | EPIDERMOLYSIS-BULLOSA | KRT10 | REVERTANT MOSAICISM | MITOTIC RECOMBINATION | DERMATOLOGY | Keratin-10 - genetics | Keratin-1 - genetics | Mutation | Ichthyosis, Lamellar | Humans | Ichthyosis - genetics | Index Medicus
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 09/2016, Volume 33, Issue 5, pp. e327 - e332
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2017, Volume 127, Issue 3, pp. 912 - 928
Journal Article