Buscar
Mostrando ítems 21-30 de 4875
How have advances in genetic technology modified movement disorder nosology?
(Wiley Blackwell Publishing, Inc, 2020-04)
The role of genetics and its technological development have been fundamental in advancing the field of movement disorders, opening the door to precision medicine. Starting from the revolutionary discovery of the locus of ...
Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014
(Lippincott Williams & Wilkins, 2016)
The XXII World Congress of Psychiatric Genetics, sponsored by the International Society of Psychiatric Genetics, took place in Copenhagen, Denmark, on 12-16 October 2014. A total of 883 participants gathered to discuss the ...
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
(2022)
Copy-number variants and structural variants (CNVs/SVs) drive many neurodevelopmental-related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex phenotypes, the overlap in phenotypic presentation ...
Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders
(Sociedade Brasileira de Genética, 2010)
A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte ...
Family-based association study for bipolar affective disorder
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2010)
Candidate gene variant effects on language disorders in Robinson Crusoe Island
(Taylor and Francis Ltd, 2019)
Background: Robinson Crusoe Island is a geographically and socially isolated settlement located over 600 km west of the Port of Valparíso, Chile. An unusually high incidence (30%) of the Chilean equivalent of developmental ...
Genome-wide QTL analysis for anxiety trait in bipolar disorder type I
(2017)
Background Genetic studies have been consistent that bipolar disorder type I (BPI) runs in families and that this familial aggregation is strongly influenced by genes. In a preliminary study, we proved that anxiety trait ...
Dry eye in childhood: Epidemiological and clinical aspects
(ETHIS COMMUNICATINS, INC, 2008)
Because dry eye disease is rare in children and its pathogenesis is less well known than in adults, its diagnosis is often overlooked. It can occur in association with a number of congenital, autoimmune, endocrine, and ...