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Journal Article
Experimental and Clinical Endocrinology & Diabetes, ISSN 0947-7349, 11/2012, Volume 120, Issue 10, pp. 579 - 585
Abstract Background: Several genetic syndromes are associated with diabetes mellitus (DM). This study aimed to analyse data from the DPV database with regard... 
Article | Klinefelter syndrome | Friedreich ataxia | Pediatric diabetology | Prader-Willi syndrome | Turner syndrome | Alström syndrome | YOUNG-ADULTS | DOWNS-SYNDROME | INCREASED PREVALENCE | TURNER-SYNDROME | ALSTROM-SYNDROME | KLINEFELTERS-SYNDROME | GHRELIN LEVELS | ENDOCRINOLOGY & METABOLISM | BODY-MASS INDEX | Alstrom syndrome | PRADER-WILLI-SYNDROME | Diabetes Mellitus, Type 1 - epidemiology | Glycated Hemoglobin A - analysis | Prader-Willi Syndrome - epidemiology | Genetic Diseases, Inborn - blood | Prevalence | Prospective Studies | Turner Syndrome - blood | Diabetic Nephropathies - etiology | Humans | Male | Down Syndrome - physiopathology | Diabetes Mellitus, Type 1 - complications | Genetic Diseases, Inborn - epidemiology | Diabetes Mellitus, Type 2 - epidemiology | Turner Syndrome - epidemiology | Diabetes Mellitus, Type 1 - etiology | Diabetes Mellitus, Type 2 - immunology | Prader-Willi Syndrome - physiopathology | Turner Syndrome - physiopathology | Down Syndrome - blood | Autoantibodies - analysis | Diabetes Mellitus, Type 2 - etiology | Female | Prader-Willi Syndrome - immunology | Diabetes Mellitus, Type 1 - immunology | Diabetic Retinopathy - etiology | Child | Dyslipidemias - etiology | Diabetes Mellitus, Type 2 - complications | Prader-Willi Syndrome - blood | Genetic Diseases, Inborn - immunology | Austria - epidemiology | Down Syndrome - epidemiology | Turner Syndrome - immunology | Germany - epidemiology | Down Syndrome - immunology | Diabetic Retinopathy - epidemiology | Dyslipidemias - epidemiology | Adolescent | Diabetic Nephropathies - epidemiology | Genetic Diseases, Inborn - physiopathology | Longitudinal Studies | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 07/2015, Volume 36, Issue 7, pp. 660 - 668
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1 , is typically characterized by multisystem involvement including early... 
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 | Index Medicus
Journal Article
BMC Genomics, ISSN 1471-2164, 05/2016, Volume 17, Issue 1, pp. 318 - 318
Background: Bardet-Biedl Syndrome (BBS) and Alstrom Syndrome are two pleiotropic ciliopathies with significant phenotypic overlap between them across many... 
ELASTASE-1 | PATHWAY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DISEASE | GENETICS & HEREDITY | BASAL BODY DYSFUNCTION | SYNDROME PROTEINS | DEGRADATION | CILIARY DYSFUNCTION | DEGENERATION | FAMILY | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 06/2011, Volume 32, Issue 6, pp. 610 - 619
Journal Article
Medicine (United States), ISSN 0025-7974, 03/2017, Volume 96, Issue 10, pp. e6192 - 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 | Index Medicus | Abridged Index Medicus
Journal Article
ALSTRÖM SYNDROME ASSOCIATED WITH CEREBRAL INVOLVEMENT: AN UNUSUAL PRESENTATION, 12/2006
Alström syndrome (AS) is a rare autosomal recessive disorder, characterized by retinal degeneration, progressive hearing impairment, truncal obesity and... 
Alström syndrome | brain involvement, case report
Journal
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
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, 05/2012, Volume 7, Issue 5, pp. e37925 - e37925
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2012, Volume 49, Issue 8, pp. 502 - 512
Journal Article