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Current Genomics, ISSN 1389-2029, 05/2011, Volume 12, Issue 3, pp. 225 - 235
Alstrom syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin... 
Ciliopathy | Truncal obesity | Alström syndrome | ALMS1 | truncal obesity | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | SYNDROME PROTEIN | DILATED CARDIOMYOPATHY | NATURAL-HISTORY | ADIPOGENESIS | FAMILIAL SYNDROME | ALMS1 GENE | ciliopathy | OBESITY | KIDNEY-FUNCTION | GENETICS & HEREDITY | Alstrom syndrome | ONSET
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
The Indian Journal of Pediatrics, ISSN 0019-5456, 3/2019, Volume 86, Issue 3, pp. 296 - 298
Cardiomyopathy is an etiologically heterogeneous condition, and non-syndromic as well as syndromic genetic causes are identified in a significant proportion of... 
Pediatrics | ALMS1 gene | Medicine & Public Health | Dilated cardiomyopathy | Gynecology | Alström syndrome | PEDIATRICS | Alstrom syndrome | ALMS1 | MUTATION | Infants | Diagnosis | Patient outcomes | Cardiomyopathy, Dilated | Genetic screening | Medical genetics
Journal Article
Human mutation, ISSN 1059-7794, 9/2015, Volume 36, Issue 9, pp. 836 - 841
Genetic analysis of clinical phenotypes in consanguineous families is complicated by co-inheritance of large DNA regions carrying independent variants. Here we... 
DYSF | retinal degeneration | vision loss | pleiotropic phenotypes | ALMS1 | photoreceptor
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
Experimental Eye Research, ISSN 0014-4835, 09/2019, Volume 186, p. 107721
Cilia are highly conserved and ubiquitously expressed organelles. Ciliary defects of genetic origins lead to ciliopathies, in which retinal degeneration (RD)... 
Ciliopathies | Leber congenital amaurosis | Bardet-biedl syndrome | Retinitis pigmentosa | Alström syndrome | Unfolded protein response | COMPLEX | PROTEIN | FORM | CILIA | OBESITY | GENE | DYSTROPHY | MUTATION | ALMS1 | OPHTHALMOLOGY | Alstrom syndrome
Journal Article
Meta Gene, ISSN 2214-5400, 09/2018, Volume 17, pp. 167 - 171
Cone-Rod Dystrophies (CRDs) are pigmentary retinopathies predominantly involving the macular cone photoreceptors leading to visual loss at an early age.... 
Prenatal diagnosis | Cone-Rod Dystrophy | Whole exome sequencing | ALMS1
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 04/2018, Volume 9, p. 110
Alström syndrome (AS) is a rare autosomal recessive disorder that shares clinical features with other ciliopathy-related diseases. Genetic mutation analysis is... 
Ciliopathy | ALMS1 gene | Childhood obesity | Retinitis pigmentosa | Whole exome sequencing | Alström syndrome | retinitis pigmentosa | whole exome sequencing | childhood obesity | ciliopathy
Journal Article
Human Mutation, ISSN 1059-7794, 07/2015, Volume 36, Issue 7, pp. 660 - 668
ABSTRACT Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement... 
Alström Syndrome | SNV | ALMS1 | ciliopathy | Ciliopathy | PROTEIN | VARIANTS | BARDET-BIEDL | CARDIOMYOPATHY | PHENOTYPE | IDENTIFICATION | OBESITY | DISEASES | GENE | GENETICS & HEREDITY | EARLY-ONSET | Alstrom Syndrome | Proteins - genetics | Young Adult | Exons | Pedigree | Humans | Adolescent | Alstrom Syndrome - genetics | Adult | Mutation | Child | Type 2 diabetes | Genetic aspects | Obesity in children | Analysis | Blindness | Genetic disorders
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
Application of Clinical Genetics, ISSN 1178-704X, 07/2015, Volume 8, pp. 171 - 179
Alström syndrome (ALMS) is a rare genetic disorder that has been included in the ciliopathies group, in the last few years. Ciliopathies are a growing group of... 
Ciliopathies | ALMS1 gene | Molecular diagnosis | ALMS1 protein | Alström syndrome | Care and treatment | Gene mutations | Analysis | Alstrom syndrome | Genetic aspects | Diagnosis | Research | Risk factors | Obesity | Disease | Cardiomyopathy | Gene expression | Hearing impairment | Kinases | Proteins | Genotype & phenotype | Cell cycle | Insulin resistance | Photoreceptors | Mutation | Gene therapy
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2012, Volume 49, Issue 8, pp. 502 - 512
Journal Article
Journal Article
Medicine (United States), ISSN 0025-7974, 03/2017, Volume 96, Issue 10, p. e6192
Rationale: Alstrom syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others.... 
insulin-resistant diabetes | Saudi | Alström syndrome | double diabetes | ALMS1 | MEDICINE, GENERAL & INTERNAL | Alstrom syndrome | SPECTRUM | Proteins - genetics | DNA Mutational Analysis | Humans | Alstrom Syndrome - genetics | Diabetes Mellitus - etiology | Female | Child
Journal Article
Audiology & neuro-otology, ISSN 1420-3030, 2015, Volume 20, Issue 4, pp. 267 - 272
Alström syndrome is an autosomal recessive syndromic genetic disorder caused by mutations in the ALMS1 gene. Sensorineural hearing loss occurs in greater than... 
histopathology | inner ear | human | Alström | ALMS1
Journal Article
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