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American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2010, Volume 152A, Issue 11, pp. 2749 - 2755
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2018, Volume 178, Issue 4, pp. 398 - 406
The use of modern next‐generation sequencing‐based approaches for gene identification has tremendously improved our understanding of the molecular pathogenesis... 
typical facial gestalt | Hallermann–Streiff syndrome | microphthalmia | progeroid features | ORAL MANIFESTATIONS | DEFECTS | HYPOTRICHOSIS | DYSPLASIA | Hallermann-Streiff syndrome | FRANCOIS SYNDROME | ANESTHETIC MANAGEMENT | DYSCEPHALIA | DISEASE | GENETICS & HEREDITY | PATIENT | MUTATIONS | Phenotypes | Pathogenesis | Abnormalities | Aging | Craniofacial syndromes | Skin | Patients | Gene sequencing
Journal Article
Biogerontology, ISSN 1389-5729, 12/2018, Volume 19, Issue 6, pp. 579 - 602
Hutchinson–Gilford progeria syndrome (HGPS) is a rare and fatal premature ageing disease in children. HGPS is one of several progeroid syndromes caused by... 
Life Sciences | Geriatrics/Gerontology | DNA damage | Hutchinson–Gilford progeria syndrome | COMET assay | Rapamycin | Farnesyltransferase inhibitors | Developmental Biology | Cell Biology | Genome organisation | Hutchinson-Gilford progeria syndrome | Metalloendopeptidases - genetics | Insulin-Like Growth Factor I - pharmacology | Humans | Progeria - metabolism | Genome, Human - drug effects | Progeria - drug therapy | Lamins - genetics | Diphosphonates - therapeutic use | Female | Farnesyltranstransferase - antagonists & inhibitors | Drug Therapy, Combination | DNA Damage - drug effects | Cell Line | Sirolimus - therapeutic use | Membrane Proteins - genetics | Progeria - genetics | Comet Assay | Sirolimus - pharmacology | Hydroxymethylglutaryl-CoA Reductase Inhibitors - pharmacology | Fibroblasts - drug effects | Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use | Lamin Type A - genetics | Protein Processing, Post-Translational | Mutation | Diphosphonates - pharmacology | Proteins | Telomeres | Cysteine | Progeria | Genomics | DNA | Genetic research | Statins | Astronomy | Cystine | Insulin-like growth factor I | Toxicity | Structural proteins | Clinical trials | Insulin-like growth factors | Genomes | Lamins | Nuclei | DNA repair | Progeroid syndromes | Mevalonic acid | Farnesyltransferase | Post-translation | Fibroblasts | Children | Chromosomes | Index Medicus
Journal Article
The FASEB Journal, ISSN 0892-6638, 09/2017, Volume 31, Issue 9, pp. 3882 - 3893
Journal Article
Annual Review of Pharmacology and Toxicology, ISSN 0362-1642, 1/2016, Volume 56, Issue 1, pp. 427 - 445
Journal Article