Current Landscape and New Paradigms of Proficiency Testing and External Quality Assessment for Molecular Genetics

Autor: Barbara A. Zehnbauer, Ira M. Lubin, Shannon D. Barker, Sue Richards, Iris Schrijver, Lisa V. Kalman, Desirée du Sart, Mario Pazzagli, Rob Elles, Wayne W. Grody

Publikováno v: Archives of Pathology & Laboratory Medicine. 137:983-988

Participation in proficiency testing (PT) or external quality assessment (EQA) programs allows the assessment and comparison of test performance among different clinical laboratories and technologies. In addition to the approximately 2300 tests for i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38b04b08d5781fe9fa717ef46460e6e8
https://doi.org/10.5858/arpa.2012-0311-ra

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

Autor: Trent Burgess, Rob Elles, David E. Barton, Malcolm Hawkins, J. Ross Hawkins, Chris Burns, Anna O'Grady, K. E. Wright, Jennifer Boyle, Elaine Gray, Simon C Ramsden, Michael Sweeney, Paul Metcalfe, Melanie Moore, Glyn Stacey

Publikováno v: European Journal of Human Genetics; Vol 19
Europe PubMed Central

Fragile X syndrome is the most common inherited form of mental retardation. It is caused by expansion of a trinucleotide (CGG)n repeat sequence in the 5′ untranslated region of the FMR1 gene, resulting in promoter hypermethylation and suppression o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7cab3ab83bd1e971091ce45ba9751f

Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma

Autor: Rolf H. A. M. Vossen, Rob Elles, Bert Bakker, Johan T. den Dunnen, Peter G. Martin, Helene Schlecht, Geoff Daniels, Elles M. J. Boon

Publikováno v: Boon, E M J, Schlecht, H B, Martin, P, Daniels, G, Vossen, R H A M, Den Dunnen, J T, Bakker, B & Elles, R 2007, ' Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma ', Prenatal Diagnosis, vol. 27, no. 10, pp. 932-937 . https://doi.org/10.1002/pd.1804
Prenatal Diagnosis, 27(10), 932-937. John Wiley and Sons Ltd

Objectives To validate the use of Real Time PCR, a widely used technique that can detect very low levels of Y chromosomal sequence, and to assess the use of a highly sensitive PCR technique, pyrophosphorolysis-activated polymerisation (PAP), for feta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2efe9e538bc8b65b9ae3662a29d6e0f2
https://doi.org/10.1002/pd.1804

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

Autor: Michael Wright, Dian Donnai, Gail C. Jackson, Simon C Ramsden, Rob Elles, William G. Newman, Jacky Taylor, Michael D. Briggs, Jason Kennedy

Publikováno v: European Journal of Human Genetics. 13:547-555

The skeletal dysplasias are a clinically and genetically heterogeneous group of conditions affecting the development of the osseous skeleton and fall into the category of rare genetic diseases in which the diagnosis can be difficult for the nonexpert

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e9397c6738e9359c9680eafed4ec76b
https://doi.org/10.1038/sj.ejhg.5201374

Missense mutations in the strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Autor: Alistair J. Wallace, Leena Ala-Kokko, Outi Mäkitie, Malwina Czarny-Ratajczak, William G. Cole, Michael Wright, Clair Baldock, Geert Mortier, Gail C. Jackson, Mohnish Suri, Briggs, Sarah F. Smithson, Eveliina Jakkula, Piotr Rogala, Rob Elles, FS Barker

Publikováno v: Journal of Medical Genetics. 41:52-59

Multiple epiphyseal dysplasia (MED) is a relatively mild and clinically variable osteochondrodysplasia in which the hip and knee joints are most frequently affected. Both autosomal dominant and autosomal recessive forms of MED are recognised. The mor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50eb09ebd0a389dc4608488ee12bf3af
https://doi.org/10.1136/jmg.2003.011429