Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.104027
Abstract: The short arm of chromosome 16 (16p) is enriched for segmental duplications, making it susceptible to recurrent, reciprocal rearrangements implicated in the etiology of several phenotypes, including intellectual disability, speech disorders, developmental coordination disorder, autism… read more here.
Keywords: chromosome 16p; clinical genetic; findings hungarian; genetic findings ... See more keywords
Essential genetic findings in neurodevelopmental disorders
Sign Up to like & getrecommendations! Published in 2019 at "Human Genomics"
DOI: 10.1186/s40246-019-0216-4
Abstract: Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture that embraces genetic mutations of distinct types (chromosomal rearrangements, copy number variants,… read more here.
Keywords: essential genetic; genetic findings; findings neurodevelopmental; neurodevelopmental disorders ... See more keywords
Alzheimer’s Disease Variant Portal: A Catalog of Genetic Findings for Alzheimer’s Disease
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Alzheimer's Disease"
DOI: 10.3233/jad-215055
Abstract: Background: Recent Alzheimer’s disease (AD) genetics findings from genome-wide association studies (GWAS) span progressively larger and more diverse populations and outcomes. Currently, there is no up-to-date resource providing harmonized and searchable information on all AD… read more here.
Keywords: disease variant; disease; alzheimer disease; genetic findings ... See more keywords
Reporting Genetic Findings to Individual Research Participants: Guidelines From the Swiss Personalized Health Network
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2020.585820
Abstract: In 2017 the Swiss federal government established the Swiss Personalized Health Network (SPHN), a nationally coordinated data infrastructure for genetic research. The SPHN advisory group on Ethical, Legal, and Social Implications (ELSI) was tasked with… read more here.
Keywords: research; swiss personalized; reporting genetic; genetic research ... See more keywords
Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2023.1111527
Abstract: Background Despite the latest advances in prenatal diagnosis and postnatal embolization procedures, intracranial arteriovenous shunts (AVSs) are still associated with high mortality and morbidity rates. Our aim was to evaluate the presentation and clinical course,… read more here.
Keywords: findings neonates; neurodevelopmental genetic; genetic findings; intracranial arteriovenous ... See more keywords
Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12081192
Abstract: Phelan-McDermid syndrome (PMS) is a genetic disorder often characterized by autism or autistic-like behavior. Most cases are associated with haploinsufficiency of the SHANK3 gene resulting from deletion of the gene at 22q13.3 or from a… read more here.
Keywords: mcdermid syndrome; genetic findings; gene; findings potential ... See more keywords