Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
Sign Up to like & getrecommendations! Published in 2020 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2019.5400
Abstract: Importance The exome molecular autopsy may elucidate a pathogenic substrate for sudden unexplained death. Objective To investigate the underlying cause of multiple sudden deaths in young individuals and sudden cardiac arrests that occurred in 2… read more here.
Keywords: duplication; ryr2; sudden cardiac; sudden deaths ... See more keywords
How persistent are duplication of purchase partitions?
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DOI: 10.1002/cb.1985
Abstract: In competitive markets, brands predictably share more customers with bigger competitors and fewer with smaller ones. Yet this robust duplication of purchase pattern occasionally has deviations. Where two or more brands share excess additional customers… read more here.
Keywords: duplication; purchase partitions; market; persistent duplication ... See more keywords
Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12
Sign Up to like & getrecommendations! Published in 2020 at "Epilepsia Open"
DOI: 10.1002/epi4.12396
Abstract: Intragenic mutations in FGF12 are associated with intractable seizures, developmental regression, intellectual disability, ataxia, hypotonia, and feeding difficulties. FGF12 duplications are rarely reported, but it was suggested that those might have a similar gain‐of‐function effect… read more here.
Keywords: phenotype; phenotype individuals; fgf12 duplications; duplication ... See more keywords
Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23605
Abstract: Skeletal dysplasias are a diverse group of rare Mendelian disorders with clinical and genetic heterogeneity. Here, we used targeted copy number variant (CNV) screening and identified intragenic exonic duplications, formed through Alu‐Alu fusion events, in… read more here.
Keywords: ift81 protein; alu; duplication; alu alu ... See more keywords
Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X‐chromosome inactivation skewing
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DOI: 10.1002/humu.24262
Abstract: Xq28 duplication syndrome (MIM# 300815) is a severe neurodevelopmental disorder in males due to MeCP2 overexpression. Most females with MECP2 duplication are asymptomatic carriers, but there are phenotypic heterogeneities. Skewed X‐chromosome inactivation (XCI) can protect… read more here.
Keywords: xci; duplication; asymptomatic females; xq28 duplication ... See more keywords
Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1592
Abstract: Recent studies suggest that duplication of the 9p24.3 chromosomal locus, which includes the DOCK8 and KANK1 genes, is associated with autism spectrum disorders (ASD), intellectual disability/developmental delay (ID/DD), learning problems, language disorders, hyperactivity, and epilepsy.… read more here.
Keywords: duplication; patients phenotypes; unrelated patients; 9p24 three ... See more keywords
Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1947
Abstract: Duplication of the distal end of chromosome 15q has been previously implicated in a characteristic overgrowth syndrome. Additionally, many patients have other congenital malformations, including cardiac, renal, genital, and musculoskeletal anomalies. However, some patients may… read more here.
Keywords: growth restriction; duplication; monochorionic twins; intrauterine growth ... See more keywords
Concurrent Duplication of Drosophila Cid and Cenp-C Genes Resulted in Accelerated Evolution and Male Germline-Biased Expression of the New Copies
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Molecular Evolution"
DOI: 10.1007/s00239-018-9851-y
Abstract: Despite their essential role in the process of chromosome segregation in eukaryotes, kinetochore proteins are highly diverse across species, being lost, duplicated, created, or diversified during evolution. Based on comparative genomics, the duplication of the… read more here.
Keywords: evolution; duplication; cenp; male germline ... See more keywords
Big on Change, Small on Innovation: Evolutionary Consequences of RNA Sequence Duplication
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DOI: 10.1007/s00239-019-09906-3
Abstract: The potential for biopolymers to evolve new structures has important consequences for their ability to optimize function and our attempts to reconstruct their evolutionary histories. Prior work with in vitro systems suggests that structural remodeling… read more here.
Keywords: evolution; rna sequence; duplication; sequence duplication ... See more keywords
Clavicle duplication following physeal injury
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DOI: 10.1007/s00276-018-2151-9
Abstract: Clavicle duplication is a rare entity with limited number of cases reported. Congenital origin and trauma related mechanisms are the main hypotheses to explain this anatomical variation. In skeletally immature patient, trauma may cause physeal-metaphyseal… read more here.
Keywords: following physeal; duplication following; duplication; clavicle duplication ... See more keywords
Caudal duplication syndrome: a literature review and reappraisal of its pathoembryogenesis
Sign Up to like & getrecommendations! Published in 2021 at "Child's Nervous System"
DOI: 10.1007/s00381-021-05166-z
Abstract: The term caudal duplication syndrome (CDS) was first introduced for complex anomalies of the distal caudal end of the trunk. The pathoembryogenesis of CDS is yet unknown, although a few theories have been proposed. We… read more here.
Keywords: literature; duplication; duplication syndrome; mesenchyme ... See more keywords