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Journal of Cell Science, ISSN 0021-9533, 2014, Volume 127, Issue 11, pp. 2391 - 2400
Journal Article
Vojnosanitetski pregled, ISSN 0042-8450, 2019, Volume 76, Issue 8, pp. 843 - 846
Introduction. The Alström syndrome (AS) is an extremely rare autosomal recessive genetic disorder, affecting fewer than 1: 1,000,000 people globally. It is a... 
diagnosis | alstrom syndrome | ophthalmologists
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, ISSN 1552-4868, 11/2009, Volume 151C, Issue 4, pp. 281 - 295
Ubiquitous in nature, cilia and flagella comprise nearly identical structures with similar functions. The most obvious example of the latter is motility:... 
Joubert syndrome | OMIM | RIB-POLYDACTYLY SYNDROME | ALSTROM-SYNDROME | ciliopathy | JOUBERT-SYNDROME | Bardet-Biedl | HEPATIC-PANCREATIC DYSPLASIA | MECKEL-SYNDROME | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | SYNDROME PROTEINS | CEREBELLAR DEVELOPMENT | cilia | ASPHYXIATING THORACIC DYSTROPHY | INTRAFLAGELLAR TRANSPORT
Journal Article
PLOS ONE, ISSN 1932-6203, 10/2014, Volume 9, Issue 10
Dysregulation of signaling pathways in adipose tissue leading to insulin resistance can contribute to the development of obesity-related metabolic disorders.... 
MUSCLE SATELLITE CELLS | ZUCKER RATS | GLUCOSE-HOMEOSTASIS | ADIPOCYTES | AMINO-ACIDS | MULTIDISCIPLINARY SCIENCES | ALMS1 | GTPASE-ACTIVATING-PROTEIN | SUBCELLULAR-LOCALIZATION | MICE | ALSTROM-SYNDROME
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 09/2009, Volume 206, Issue 10, pp. 2161 - 2177
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 01/2019, Volume 40, Issue 1, pp. 7 - 11
Background: We describe the ophthalmologic, clinical, and genetic findings in a patient of Yemenite-Jewish origin diagnosed with Alstrom syndrome due to a... 
splicing mutation | Alstrom syndrome | impaired vision | inherited retinal degeneration | ALMS1 | VARIANTS | GENETICS & HEREDITY | OPHTHALMOLOGY | CONE
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 04/2018, Volume 9
Alstrom syndrome (AS) is a rare autosomal recessive disorder that shares clinical features with other ciliopathy-related diseases. Genetic mutation analysis is... 
ALMS1 gene | OBESITY | INSULIN-RESISTANCE | childhood obesity | ALMS1 | GENETICS & HEREDITY | retinitis pigmentosa | Alstrom syndrome | SPECTRUM | whole exome sequencing | ciliopathy
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2012, Volume 49, Issue 8, pp. 502 - 512
Journal Article