Výsledky vyhledávání - "J J A Holden"

Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities

Autor: Maryse Chalifoux, Colin Julien-Inalsingh, Bradley N. White, J. J. A. Holden, B. Maidment, Samantha J. L. Knight, K. Fidler, Kay E. Davies, E. Scott, Maggie Wing, I. Swift

Expansion of a polymorphic GCC-repeat at the FRAXE locus has been associated with expression of chromosome fragility at this site and cognitive impairment in some individuals previously testing negative for CGG-repeat expansion in the fragile X menta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ac45a70e26df9bf9bde6357ec6d5787
https://ora.ox.ac.uk/objects/uuid:13dfdb10-9024-4b68-9173-6f5e79838f73

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Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics

Autor: Xudong Liu, Ying Qiao, Evica Rajcan-Separovic, M. E. S. Lewis, Christine Tyson, Chansonette Harvard, C. Fawcett, Paul Pavlidis, J. J. A. Holden

Publikováno v: Human Genetics. 128:179-194

Array CGH enables the detection of pathogenic copy number variants (CNVs) in 5-15% of individuals with intellectual disability (ID), making it a promising tool for uncovering ID candidate genes. However, most CNVs encompass multiple genes, making it

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01f437b7b43353ad155ec65795d68784
https://doi.org/10.1007/s00439-010-0837-0

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Phenomic determinants of genomic variation in autism spectrum disorders

Autor: Xudong Liu, N. Riendeau, E. Rajcan-Separovic, M J Hildebrand, M Koochek, Chansonette Harvard, M. E. S. Lewis, J. J. A. Holden, Ying Qiao

Publikováno v: Journal of Medical Genetics. 46:680-688

Background: Autism spectrum disorders (ASDs) are common, heritable neurobiologic conditions of unknown aetiology confounded by significant clinical and genetic heterogeneity. Methods: This study evaluated a broad categorisation of phenotypic traits (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8e46a297ae48bb15ed41e51adf7beaa
https://doi.org/10.1136/jmg.2009.066795

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Putatively benign copy number variants in subjects with idiopathic autism spectrum disorder and/or intellectual disability

Autor: N. Riendeau, E. Rajcan-Separovic, C. Fawcett, Ying Qiao, X Liu, M. E. S. Lewis, J. J. A. Holden, Chansonette Harvard

Publikováno v: Cytogenetic and Genome Research. 123:79-87

Putatively benign copy number variants (bCNVs) can be broadly defined as DNA copy number gains or losses that do not lead to a recognizable clinical phenotype. Detection of bCNVs in genomes of clinically healthy individuals is increasing with the wid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2aaa0ff082e443dda004ed3afdf28f1
https://doi.org/10.1159/000184694

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Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

Autor: J G Hall, X Liu, E. Rajcan-Separovic, Elizabeth C. R. Mickelson, Ying Qiao, J Hildebrand, Chansonette Harvard, J. J. A. Holden, Jane Hurlburt, M. E. S. Lewis, Barbara McGillivray

Publikováno v: Journal of Medical Genetics. 44:269-276

Background: During whole genome microarray-based comparative genomic hybridisation (array CGH) screening of subjects with idiopathic intellectual disability, we identified two unrelated individuals with a similar de novo interstitial microdeletion at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21bb948c4bc6e9f3ac1bc08ace356813
https://doi.org/10.1136/jmg.2006.045013

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15q Duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH

Autor: M Koochek, M J Hildebrand, M I Van Allen, M. E. S. Lewis, E. Rajcan-Separovic, H. Wingert, Chansonette Harvard, Elizabeth C. R. Mickelson, J. J. A. Holden

Publikováno v: Clinical Genetics. 69:124-134

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with a strong genetic aetiology. In approximately 1% of cases, duplication of the 15q11-13 region has been reported. We report the clinical, array-comparative genomic hybrid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::437c39cc05279e67daed98642795fe0d
https://doi.org/10.1111/j.1399-0004.2005.00560.x

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A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH

Autor: Chansonette Harvard, M Koochek, M. E. S. Lewis, S Creighton, Elizabeth C. R. Mickelson, P Malenfant, J J A Holden, Evica Rajcan-Separovic

Publikováno v: Clinical Genetics. 67:341-351

Cri du Chat syndrome (CdCs) is a well-defined clinical entity, with an incidence of 1/15,000 to 1/50,000. The critical region for CdCs has been mapped to 5p15, with the hallmark cat-like cry sublocalized to 5p15.3 and the remaining clinical features

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c9fccbbe9e5b882732d0aa8964d74204
https://doi.org/10.1111/j.1399-0004.2005.00406.x

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FMR1 alleles in Tasmania: a screening study of the special educational needs population

Autor: Trent Burgess, Allan Carmichael, Danuta Z. Loesch, K. D. Heading, Robert John Mitchell, Y. Curlis, C. Zhang, J. J. A. Holden, Kenneth C. Kirkby, Howard R. Slater

Publikováno v: Clinical Genetics. 67:38-46

The distribution of fragile X mental retardation-1 (FMR1) allele categories, classified by the number of CGG repeats, in the population of Tasmania was investigated in 1253 males with special educational needs (SEN). The frequencies of these FMR1 cat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::219ca4b5892c7d073391a34e0a8d8d89
https://doi.org/10.1111/j.1399-0004.2004.00344.x

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Association of autism severity with a monoamine oxidase A functional polymorphism

Autor: Xudong Liu, Edmund C. Jenkins, Bradley N. White, Ira L. Cohen, W. T. Brown, J. J. A. Holden, Chris K. Schutz

Publikováno v: Clinical Genetics. 64:190-197

A functional polymorphism (the upstream variable-number tandem repeat region, or uVNTR) in the monoamine oxidase A (MAOA) promoter region has been reported to be associated with behavioral abnormalities as well as increased serotonergic responsivity.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c3558727c15d7507b3317a3f2937b02e
https://doi.org/10.1034/j.1399-0004.2003.00115.x

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Genetic variation and intergenerationalFMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population

Autor: Joe A. Hettinger, Carolina Sismani, Philippos C. Patsalis, P. Manoli, S. Stylianou, G. Joseph, P. Ioannou, J. J. A. Holden

Publikováno v: American Journal of Medical Genetics. 84:217-220

In order to identify genetic factors governing expansion of the CGG repeat in the FMR1 gene and to determine what predisposes or causes a normal stable allele to change to an unstable premutation allele, it is essential to study and understand the ba

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d8d4bf64ed079bcf3aa2020d6bc7ea39
https://doi.org/10.1002/(sici)1096-8628(19990528)84:3<217::aid-ajmg10>3.0.co

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