Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia - Bennouna-Greene, V; Kremer, S; Stoetzel, C; Christmann, D; Schuster, C; Durand, M; Verloes, A; Sigaudy, S; Holder-Espinasse, M; Godet, J; Brandt, C; Marion, V; et al. (Clinical genetics, 2011)
Keywords: Adolescent; ADP-Ribosylation Factors - genetics; ADP-Ribosylation Factors - metabolism; Adult; Bardet-Biedl Syndrome - genetics; Bardet-Biedl Syndrome - metabolism; Bardet-Biedl Syndrome - pathology; Biochemistry, Molecular Biology; Biological and medical sciences; bradyphrenia; Brain; Cellular Biology; Cilia - genetics; Cilia - pathology; Cognition Disorders - diagnosis; Cognition Disorders - pathology; Cognitive ability; Cohort Studies; Female; Fundamental and applied biological sciences. Psychology; Gene Expression; General aspects. Genetic counseling; Genetic disorders; Genetics of eukaryotes. Biological and molecular evolution; Group II Chaperonins - genetics; Group II Chaperonins - metabolism; hippocampal dysgenesis; Hippocampus - metabolism; Hippocampus - pathology; Humans; Life Sciences; Magnetic Resonance Imaging; Male; Medical genetics; Medical sciences; Memory; mental retardation; Metabolic diseases; Microtubule-Associated Proteins - genetics; Microtubule-Associated Proteins - metabolism; Middle Aged; Molecular and cellular biology; Nervous system; Neurogenesis; NMR; Nuclear magnetic resonance; Obesity; Phenotype; primary cilia; Proteins; RNA, Messenger - analysis; RNA, Messenger - genetics; Young Adult; Endocrinopathy; Human; Obesity; Laurence-Moon-Bardet-Biedl syndrome; Nervous system diseases; Diseases of the osteoarticular system; Nutrition disorder; Patient; Developmental disorder; Mental retardation; Complexes; Genetic disease; Genital diseases; Eye disease; Phenotype; bradyphreniaprimary cilia; Malformation; Intellectual deficiency; Genetics; hippocampal dysgenesis; Complex syndrome; Nutritional status; Hippocampus