Zobrazeno 1 - 10
of 124
pro vyhledávání: '"J.F. Harvey"'
Autor:
N. Simon Thomas, Damien L. Bruno, Susan Tomkins, J.F. Harvey, Giedre Grigelioniene, Robert Hastings, Julia Rankin, Tiong Yang Tan, David J. Bunyan
Publikováno v:
American Journal of Medical Genetics Part A. :1407-1414
Deletions of the SHOX gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial SHOX duplications limited to PAR1 appear to be very rare and the clinical significance of the only c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d45ea68a913928fd814ed5aeae48cbef
https://doi.org/10.1002/ajmg.a.32914
https://doi.org/10.1002/ajmg.a.32914
Publikováno v:
Clinical Chemistry. 52:1005-1013
Background: Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are 2 distinct neurodevelopmental disorders caused primarily by deficiency of specific parental contributions at an imprinted domain within the chromosomal region 15q11.2-13. In mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2cfda36206a298a2ca291608689ee23e
https://doi.org/10.1373/clinchem.2005.065086
https://doi.org/10.1373/clinchem.2005.065086
Autor:
J.F. Harvey, Fiona MacDonald, Seyed Mohammad Akrami, Malcolm G. Dunlop, Susan M. Farrington, Ian M. Frayling, John A.L. Armour
Publikováno v:
Familial Cancer. 4:145-149
Background: Exonic deletions in MSH2 and MLH1 are significant contributors to the mutation spectrum in HNPCC, and heterozygous changes in exon copy number are not detected by conventional mutation screening methods. Aims: We aimed to develop methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3f27c91505a2eafed0af32c0efb8597
https://doi.org/10.1007/s10689-004-6131-3
https://doi.org/10.1007/s10689-004-6131-3
Autor:
N. Simon Thomas, Philippa Duncan, J Sillibourne, J Shea-Simonds, Diana Eccles, David J. Bunyan, E Wilkins, Claire Curtis, J.F. Harvey, David O. Robinson, Nicholas C.P. Cross
Publikováno v:
British Journal of Cancer
Multiplex ligation-dependent probe amplification (MLPA) is a recently described method for detecting gross deletions or duplications of DNA sequences, aberrations which are commonly overlooked by standard diagnostic analysis. To determine the inciden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a4c07f401956c847a196176515c5785
https://doi.org/10.1038/sj.bjc.6602121
https://doi.org/10.1038/sj.bjc.6602121
Publikováno v:
IEEE Microwave Magazine. 2:30-39
Micromachined silicon integrated circuits have the potential for providing an overarching circuit integration technology that can significantly reduce the size, weight, and cost of microwave and millimeter-wave components. The capability to integrate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6febe04422f45a8c0af6ca24eee928a5
https://doi.org/10.1109/6668.918260
https://doi.org/10.1109/6668.918260
Autor:
P.J. Duncan, E. Cross, C.L.S. Turner, C.M. Yearwood, Nicola Foulds, Amanda L. Collins, R.J. Howarth, H. Emery, D.J. Bunyan, J.F. Harvey
Publikováno v:
American journal of medical genetics. Part A. (2)
Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders. The disease spectrum is wide and while many genotype-phenotype correlations have been reported, few have been consistent. In this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15a14b703abd84325802c3937d7b19ba
https://pubmed.ncbi.nlm.nih.gov/19161152
https://pubmed.ncbi.nlm.nih.gov/19161152
Publikováno v:
European journal of human genetics : EJHG. 15(11)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a43c118b0b657954b5ad03bbf6d4f62
https://pubmed.ncbi.nlm.nih.gov/17960153
https://pubmed.ncbi.nlm.nih.gov/17960153
Publikováno v:
Genetic testing. 11(2)
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene FBN1. Mutation detection of this 65-exon gene presents a particular challenge for the diagnostic service in cost, time constraints,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73e7b0c2eb9709d5910adac3fa33d678
https://pubmed.ncbi.nlm.nih.gov/17627385
https://pubmed.ncbi.nlm.nih.gov/17627385
Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing
Publikováno v:
Genetic testing. 9(3)
Disease-causing mutations in mitochondrial DNA (mtDNA) are typically heteroplasmic and therefore interpretation of genetic tests for mitochondrial disorders can be problematic. Detection of low level heteroplasmy is technically demanding and it is of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbb13de36977d52f1d810d2655ca74c9
https://pubmed.ncbi.nlm.nih.gov/16225398
https://pubmed.ncbi.nlm.nih.gov/16225398
