X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1242) 1242
Book Review (201) 201
Publication (82) 82
Book Chapter (15) 15
Book / eBook (11) 11
Conference Proceeding (6) 6
Dissertation (2) 2
Journal / eJournal (2) 2
Newspaper Article (1) 1
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (990) 990
index medicus (921) 921
cutis laxa (556) 556
female (516) 516
male (490) 490
adult (270) 270
cutis laxa - pathology (268) 268
cutis laxa - genetics (260) 260
dermatology (228) 228
skin (186) 186
genetics & heredity (181) 181
mutation (169) 169
infant (168) 168
cutis laxa - complications (165) 165
cutis laxa - diagnosis (152) 152
middle aged (152) 152
child (151) 151
skin - pathology (151) 151
child, preschool (145) 145
syndrome (135) 135
elastin (119) 119
adolescent (116) 116
animals (113) 113
elastic tissue - pathology (111) 111
phenotype (105) 105
infant, newborn (104) 104
gene (97) 97
aged (90) 90
abridged index medicus (89) 89
biochemistry & molecular biology (89) 89
pediatrics (86) 86
diagnosis, differential (85) 85
cutis laxa - congenital (84) 84
cutis laxa - etiology (80) 80
collagen (74) 74
cutis laxa - metabolism (73) 73
extracellular matrix proteins - genetics (71) 71
biopsy (70) 70
cutis laxa - surgery (69) 69
mutations (69) 69
pedigree (68) 68
disease (63) 63
mice (63) 63
cell biology (60) 60
fibroblasts (59) 59
extracellular matrix (58) 58
in-vivo (58) 58
elastin - genetics (57) 57
genetic aspects (57) 57
dermatology & venereal diseases (55) 55
glycosylation (55) 55
article (54) 54
diagnosis (54) 54
missense mutation (51) 51
abnormalities, multiple - genetics (49) 49
elastic tissue (49) 49
elastin - metabolism (49) 49
skin diseases (49) 49
genes, recessive (47) 47
fibroblasts - metabolism (45) 45
tropoelastin (45) 45
cutis-laxa (44) 44
ehlers-danlos syndrome - genetics (43) 43
expression (43) 43
fibers (43) 43
extracellular matrix proteins - metabolism (42) 42
pregnancy (42) 42
proteins (41) 41
skin - metabolism (41) 41
surgery (41) 41
cutis laxa - physiopathology (40) 40
skin - ultrastructure (40) 40
skin diseases - pathology (40) 40
acquired cutis laxa (39) 39
pathology (39) 39
cells, cultured (38) 38
ehlers-danlos syndrome (38) 38
ophthalmology (38) 38
care and treatment (36) 36
genetic disorders (36) 36
immunohistochemistry (36) 36
molecular biology (36) 36
physiological aspects (35) 35
dna mutational analysis (34) 34
genetics (34) 34
marfan-syndrome (34) 34
risk factors (34) 34
analysis (33) 33
elastic tissue - ultrastructure (33) 33
exons (33) 33
fibulin-5 (33) 33
microscopy, electron (33) 33
molecular sequence data (33) 33
base sequence (32) 32
connective tissue diseases (32) 32
consanguinity (32) 32
ehlers-danlos-syndrome (32) 32
recessive cutis laxa (32) 32
abnormalities, multiple - pathology (31) 31
collagen - metabolism (31) 31
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (1048) 1048
French (75) 75
German (59) 59
Spanish (25) 25
Portuguese (15) 15
Italian (9) 9
Korean (7) 7
Japanese (6) 6
Russian (6) 6
Dutch (5) 5
Polish (5) 5
Hungarian (3) 3
Finnish (2) 2
Chinese (1) 1
Czech (1) 1
Romanian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Congenital genralized cutis laxa in two sisters, 03/2004
Two sisters, aged 2 and 3 years, having generalized cutis laxa, presenting with progressive loose pendulous skin since birth are reported. 
Dermatology | Cutis laxa, Congenital. dv04032
Journal
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2013, Volume 110, Issue 3, pp. 352 - 361
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1016 - 1021
Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are often associated with a progeroid appearance, lax and wrinkled skin,... 
GERODERMIA OSTEODYSPLASTICA | HYPERAMMONEMIA | MITOCHONDRIA | GENETICS & HEREDITY | WRINKLY SKIN SYNDROME | NEURODEGENERATION | LINKAGE ANALYSIS | REDUCED ORNITHINE | GLYCOSYLATION | ENCODING DELTA-PYRROLINE-5-CARBOXYLATE SYNTHASE | PROLINE | Xenopus | Oxidative stress | Amphibiotic species | Danio rerio | Proline | Gene products | Mental retardation | Freshwater | Connective tissues | Mitochondria | Fibroblasts | Freshwater fish | Membrane potential | Chromosomes | Clawed frogs | Osteopenia | Animal physiology | chromosome 17 | Hypoplasia | Mutations | Enzymes | Zebra danio | Metabolism | Skin | Mutation | Gene mapping | Apoptosis | Agenesis of Corpus Callosum | Frameshift Mutation | Humans | Child, Preschool | Cutis Laxa | Molecular Sequence Data | Infant | Male | Mutation, Missense | delta-1-pyrroline-5-carboxylate reductase | Case-Control Studies | Proteins | Genotype & phenotype | Base Sequence | Gene Deletion | Genetics | Female | Intellectual Disability | Infant, Newborn | Physical Chromosome Mapping | Zebrafish | Genetic Markers | Genes, Recessive | Human subjects | Homozygote | Chromosomes, Human, Pair 17 | Pedigree | Pyrroline Carboxylate Reductases | Consanguinity | Polymorphism, Single Nucleotide | Skin - cytology | Pyrroline Carboxylate Reductases - metabolism | Skin - metabolism | Cutis Laxa - etiology | Intellectual Disability - genetics | Fibroblasts - metabolism | Cutis Laxa - metabolism | Cutis Laxa - genetics | Pyrroline Carboxylate Reductases - genetics | Skin - ultrastructure | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 216 - 227
Journal Article
Infantile congenital cutis laxa with multiple hernias and ventricular septal defect, 12/2005
Cutis laxa is a rare disorder characterized by degenerative changes in elastic fibres. Congenital cutis laxa is more common than acquired cutis laxa. The... 
Congenital cutis laxa, Multiple hernias, Infant
Journal
International Journal of Dermatology, ISSN 0011-9059, 11/2018, Volume 57, Issue 11, pp. 1369 - 1371
Journal Article
Journal Article
Brain & Development, ISSN 0387-7604, 2016, Volume 38, Issue 7, pp. 678 - 684
Journal Article
Human Genetics, ISSN 0340-6717, 2012, Volume 131, Issue 11, pp. 1761 - 1773
Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlapping, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were... 
Gene Function | Human Genetics | Molecular Medicine | Biomedicine | Metabolic Diseases | VACUOLAR (H+)-ATPASES | CELLS | GENE | DISEASE | GENETICS & HEREDITY | MISSENSE MUTATION | H+-ATPASE | PROTEIN GLYCOSYLATION | BRAIN DYSGENESIS | ALTERED GLYCOSYLATION | DEBRE TYPE | Humans | Brefeldin A | Child, Preschool | Cutis Laxa | Infant | Male | ATP6V0A2 protein, human | Young Adult | Fibroblasts | Adult | Real-Time Polymerase Chain Reaction | Protein Synthesis Inhibitors | Transforming Growth Factor beta1 | Enzyme-Linked Immunosorbent Assay | Cells, Cultured | Glycosylation | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Protein Transport | Golgi Apparatus | Proton-Translocating ATPases | Adolescent | Fluorescent Antibody Technique | Skin | Mutation | RNA, Messenger | Apoptosis | Indexing in process | Skin - metabolism | Golgi Apparatus - drug effects | Transforming Growth Factor beta1 - metabolism | Brefeldin A - pharmacology | Protein Transport - drug effects | Glycosylation - drug effects | Proton-Translocating ATPases - genetics | Protein Synthesis Inhibitors - pharmacology | Skin - pathology | Fibroblasts - metabolism | Cutis Laxa - metabolism | Cutis Laxa - congenital | RNA, Messenger - genetics | Cutis Laxa - genetics | Fibroblasts - pathology | Mutation - genetics | Fibroblasts - drug effects | Golgi Apparatus - metabolism | Cutis Laxa - pathology | Skin - drug effects | Pregnant women | Genes | Children | Universities and colleges | Transforming growth factors | Health aspects | Cells | Adenosine triphosphatase | Bone morphogenetic proteins | Chemical properties | Index Medicus
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 04/2019, Volume 28, Issue 2, pp. 63 - 65
Journal Article
Journal Article