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European journal of human genetics, ISSN 1018-4813, 2015, Volume 23, Issue 9, pp. 1142 - 1150
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 07/2017, Volume 65, Issue 1, pp. e5 - e15
textabstractOBJECTIVE:: Monogenic defects in the interleukin-10 (IL-10) pathway are extremely rare and cause infantile-onset inflammatory bowel disease... 
Crohn disease | ulcerative colitis | interleukin-10 | T cell | dendritic cell | CROHNS-DISEASE | ULCERATIVE-COLITIS | CD4(+) T-CELLS | THALIDOMIDE | IL-10 | INTESTINAL INFLAMMATION | NUTRITION & DIETETICS | INFLAMMATORY-BOWEL-DISEASE | PEDIATRICS | MUTATIONS | GASTROENTEROLOGY & HEPATOLOGY | EXPRESSION | TH17 CELLS | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2013, Volume 161, Issue 9, pp. 2376 - 2384
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 51 - 51
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2012, Volume 20, Issue 8, pp. 844 - 851
textabstractFamilial porencephaly, leukoencephalopathy and small-vessel disease belong to the spectrum of disorders ascribed to dominant mutations in the gene... 
COL4A2 | porencephaly | small-vessel disease | collagen-IV | APOPTOSIS | INTEGRIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | IV COLLAGEN | MOUSE | GROWTH | GENETICS & HEREDITY | EXPRESSION | DOMAINS | HEMORRHAGIC STROKE | BRAIN | Basement Membrane - ultrastructure | Exons | Humans | Brain Diseases - genetics | Child, Preschool | Apoptosis - genetics | Infant | Male | Intracranial Aneurysm - diagnosis | Basement Membrane - pathology | Young Adult | Hemiplegia - diagnosis | Base Sequence | Porencephaly | Adult | Female | Child | Skin - pathology | Genetic Predisposition to Disease | Brain Diseases - diagnosis | Intracranial Aneurysm - genetics | Mice, Knockout | Magnetic Resonance Imaging | Animals | Hemiplegia - genetics | Pedigree | Collagen Type IV - deficiency | Endoplasmic Reticulum Stress | Adolescent | Brain - pathology | Collagen Type IV - genetics | Skin - ultrastructure | Heterozygote | Consanguinity | Mice | Mutation | Cataracts | Cerebellum | Hydrocephalus | Aneurysm | Cardiovascular disease | Leukoencephalopathy | Bleeding | Proteins | Fibroblasts | Genetics | Collagen (type IV) | Muscle pain | Hypoplasia | Phenotypes | Congenital diseases | Optic nerve | Basement membranes | Electron microscopy | Substantia alba | Cysts | Biopsy | Collagen | Skin | Endoplasmic reticulum | Apoptosis | Index Medicus | Risk factors | Stress | genomics | Cerebrovascular diseases
Journal Article
Journal Article