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Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 6, pp. 654 - 660
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 398 - 404
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2016, Volume 126, Issue 3, pp. 948 - 961
Journal Article
International Journal of Dermatology, ISSN 0011-9059, 12/2017, Volume 56, Issue 12, pp. 1406 - 1413
Background Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten... 
KINDLER-SYNDROME | KINDLIN-1 | PROTEIN | MUTATION | VII COLLAGEN | SPECTRUM | DYSTROPHIC EPIDERMOLYSIS-BULLOSA | IDENTIFICATION | DERMATOLOGY | Rare Diseases - genetics | 1-Acylglycerol-3-Phosphate O-Acyltransferase - genetics | Endonucleases - genetics | Lipid Metabolism, Inborn Errors - genetics | Sjogren-Larsson Syndrome - genetics | Xeroderma Pigmentosum - genetics | Humans | Male | Mitochondrial Proteins - genetics | Ichthyosis Vulgaris - genetics | INDEL Mutation | Skin Diseases, Genetic - genetics | Exome | Epidermolysis Bullosa - genetics | DNA Mutational Analysis | Intermediate Filament Proteins - genetics | Female | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Periodontal Diseases - genetics | Protoporphyrinogen Oxidase - genetics | Porphyria, Variegate - genetics | Photosensitivity Disorders - genetics | Epidermolysis Bullosa Simplex - genetics | Flavoproteins - genetics | Membrane Proteins - genetics | Collagen Type VII - genetics | Aldehyde Oxidoreductases - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Blister - genetics | Keratin-14 - genetics | Homozygote | Phenotype | Ichthyosis, Lamellar - genetics | Pedigree | Lipoxygenase - genetics | Consanguinity | Epidermolysis Bullosa Dystrophica - genetics | Muscular Diseases - genetics | Ichthyosiform Erythroderma, Congenital - genetics | Genetic research | Skin | Nucleotide sequencing | Genes | DNA sequencing | Sebaceous glands | Nails | Glands | Teeth | Disorders | Homozygosity | Tissues | Follicles | Gene sequencing | Genodermatosis | Gene mapping
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2015, Volume 96, Issue 1, pp. 170 - 177
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 197 - 210
White matter hyperintensities (WMHs) of the brain are important markers of aging and small-vessel disease. WMHs are rare in healthy children and, when... 
INCIDENTAL FINDINGS | POPULATION | GENETICS & HEREDITY | DEVELOPMENTAL DELAY | MR-IMAGES | PREVALENCE | SPEECH | BRAIN | CHILDREN | Language disorders | Physiological aspects | Disease susceptibility | Genetic aspects | Research | Children | Gene expression | Diseases
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 405 - 405
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 01/2015, Volume 96, Issue 1, p. 170
  Up to 20% of individuals who have thoracic aortic aneurysms or acute aortic dissections but who do not have syndromic features have a family history of... 
Genomics | Aneurysms | Cardiovascular disease | Amino acids | Zebrafish | Mutation
Journal Article
Nature genetics, ISSN 1061-4036, 6/2015, Volume 47, Issue 6, pp. 654 - 660
Advances in genomics have allowed unbiased genetic studies of human disease with unexpected insights into the molecular mechanisms of cellular immunity and... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, p. 398
  Gene mutations that lead to decreased contraction of vascular smooth-muscle cells (SMCs) can cause inherited thoracic aortic aneurysms and dissections. Exome... 
Phosphorylation | Aneurysms | Mutation | Kinases | Dissection | Cells
Journal Article
Circulation Research, ISSN 0009-7330, 09/2011, Volume 109, Issue 6, pp. 680 - 686
RATIONALE:: Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) can be inherited in families in an autosomal dominant manner. As part of the... 
Vascular diseases | Aneurysm | Aorta | Heredity | Smad3 protein | Thorax | Mutation | Osteoarthritis
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, p. 197
  White matter hyperintensities (WMHs) of the brain are important markers of aging and small-vessel disease. WMHs are rare in healthy children and, when... 
Proteins | Genotype & phenotype | Membranes | Nuclear magnetic resonance--NMR | Language disorders | Biomarkers | Cytoplasm
Journal Article