Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Kelly A. Sillence"'
Autor:
Sharon J. Brown, Rachel A. Kline, Silvia A. Synowsky, Sally L. Shirran, Ian Holt, Kelly A. Sillence, Peter Claus, Brunhilde Wirth, Thomas M. Wishart, Heidi R. Fuller
Publikováno v:
Cells, Vol 11, Iss 17, p 2624 (2022)
Most research to characterise the molecular consequences of spinal muscular atrophy (SMA) has focused on SMA I. Here, proteomic profiling of skin fibroblasts from severe (SMA I), intermediate (SMA II), and mild (SMA III) patients, alongside age-match
Externí odkaz:
https://doaj.org/article/3cd4a33860b94e2dbe9ab7ac17ec3748
Publikováno v:
Diagnostics, Vol 3, Iss 2, Pp 291-314 (2013)
Down’s syndrome (DS) is the most common genetic cause of developmental delay with an incidence of 1 in 800 live births, and is the predominant reason why women choose to undergo invasive prenatal diagnosis. However, as invasive tests are associated
Externí odkaz:
https://doaj.org/article/d704582c66ef4c4da9c0a0c4d96700bf
Autor:
Tracey E. Madgett, Amr J Halawani, Kirsty A Clarke, Kelly A. Sillence, Wajnat A Tounsi, Michele Kiernan, Neil D. Avent
Publikováno v:
Clinical Chemistry. 63:1388-1397
BACKGROUND Paternal zygosity testing is used for determining homo- or hemizygosity of RHD in pregnancies that are at a risk of hemolytic disease of the fetus and newborn. At present, this is achieved by using real-time PCR or the Rhesus box PCR, whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ade78f3fedca72af63fc494af4de9d19
https://doi.org/10.1373/clinchem.2016.268698
https://doi.org/10.1373/clinchem.2016.268698
Publikováno v:
Diagnostics
Diagnostics, Vol 3, Iss 2, Pp 291-314 (2013)
Diagnostics, Vol 3, Iss 2, Pp 291-314 (2013)
Down’s syndrome (DS) is the most common genetic cause of developmental delay with an incidence of 1 in 800 live births, and is the predominant reason why women choose to undergo invasive prenatal diagnosis. However, as invasive tests are associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2103699aaf57673770883d8d229a7c05
http://europepmc.org/articles/PMC4665531
http://europepmc.org/articles/PMC4665531
Autor:
T Miran, Kelly A. Sillence, N Kaushik, Alastair J.S. Webb, Tracey E. Madgett, Neil D. Avent, Michele Kiernan
Publikováno v:
Balkan Journal of Medical Genetics, Vol 15, Iss Supplement, Pp 17-26 (2012)
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics : BJMG
Current invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfef1f1474b043462dc4ee47427cda0a
https://doaj.org/article/4720b474757c44289a37591052981ad1
https://doaj.org/article/4720b474757c44289a37591052981ad1
Autor:
Kelly A, Sillence, Amr J, Halawani, Wajnat A, Tounsi, Kirsty A, Clarke, Michele, Kiernan, Tracey E, Madgett, Neil D, Avent
Publikováno v:
Clinical chemistry. 63(8)
Paternal zygosity testing is used for determining homo- or hemizygosity ofDNA samples extracted from 53 blood donors were analyzed using 2 multiplex reactions forThe results showed clear and reliable determination ofDigital PCR provides a highly accu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0ee4c473e4b5cf146a40c4c5c8ef15e5
https://pubmed.ncbi.nlm.nih.gov/28615230
https://pubmed.ncbi.nlm.nih.gov/28615230
Autor:
Neil D. Avent, Michele Kiernan, C. Ross Welch, Kelly A. Sillence, Hannah P. Thompson, Llinos A. Roberts, Tracey E. Madgett, Heidi J. Hollands
Publikováno v:
Clinical chemistry. 61(11)
BACKGROUND Noninvasive genotyping of fetal RHD (Rh blood group, D antigen) can prevent the unnecessary administration of prophylactic anti-D to women carrying RHD-negative fetuses. We evaluated laboratory methods for such genotyping. METHODS Blood sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28f8e1384e051dccf73ec67627b72b12
https://pubmed.ncbi.nlm.nih.gov/26354802
https://pubmed.ncbi.nlm.nih.gov/26354802