Výsledky vyhledávání - "M. E. S. Lewis"

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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Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

Autor: Sylvie Langlois, Lorne A. Clarke, Laura Arbour, Christine Tyson, M I Van Allen, Jan M. Friedman, Evica Rajcan-Separovic, Chansonette Harvard, B. McGilivray, Martin J. Somerville, R. Locker, Siu-Li Yong, M. E. S. Lewis, J. Siegel-Bartel

Publikováno v: American Journal of Medical Genetics Part A. :173-185

Intellectual disability (ID) affects about 3% of the population (IQ < 70), and in about 40% of moderate (IQ 35-49) to severe ID (IQ < 34), and 70% of cases of mild ID (IQ 50-70), the etiology of the disease remains unknown. It has long been suspected

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e225cb1b74c773b1abe92e6ca6f3e3a7
https://doi.org/10.1002/ajmg.a.31015

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Prenatally detected trisomy 20 mosaicism

Autor: M. E. S. Lewis, Barbara McGillivray, Dagmar K. Kalousek, Wendy P. Robinson, I. J. Barrett, Laura Arbour

Publikováno v: Prenatal Diagnosis. 25:239-244

Background Trisomy 20 is one of the more common mosaic trisomies detected on amniocentesis and presents with a normal outcome in over 90% of reported cases. Trisomic cells are almost never confirmed in newborn blood and are only rarely found in other

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38a544a93de91e2994c4b99b4a620fda
https://doi.org/10.1002/pd.1121

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Lipid and lipoprotein analysis of cats with lipoprotein lipase deficiency

Autor: R. Dyer, Michael R. Hayden, Robert H. Eckel, Howard E. Henderson, J. Dallongeville, E. Bauje, Quinton R. Rogers, Jean-Charles Fruchart, S. Innis, Jones Bd, Dalan R. Jensen, M. E. S. Lewis, Susanne M. Clee, David G. Ginzinger

Publikováno v: European Journal of Clinical Investigation. 29:17-26

Background We have previously described a colony of domestic cats with a naturally occurring mutation in the lipoprotein lipase (LPL) gene. We have now further characterized cats homozygous for LPL deficiency (LPL −/−, homozygotes), and have cont

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::48eb820581334ae1d492e3ffd2d077e9
https://doi.org/10.1046/j.1365-2362.1999.00435.x

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Correction of Hypertriglyceridemia and Impaired Fat Tolerance in Lipoprotein Lipase–Deficient Mice by Adenovirus-Mediated Expression of Human Lipoprotein Lipase

Autor: N. Duverger, M. E. S. Lewis, P. Benoit, Clay F. Semenkovich, Bruce M. McManus, Michael R. Hayden, Trey Coleman, Guoqing Liu, D. Branellec, Katherine J. D. A. Excoffon, Janet E. Wilson, Patrice Denefle, Li Miao

Publikováno v: Arteriosclerosis, Thrombosis, and Vascular Biology. 17:2532-2539

Abstract Humans homozygous or heterozygous for mutations in the lipoprotein lipase (LPL) gene demonstrate significant disturbances in plasma lipoproteins, including raised triglyceride (TG) and reduced HDL cholesterol levels. In this study we explore

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c00fd788b657d692200475bf3d6c051c
https://doi.org/10.1161/01.atv.17.11.2532

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