Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Kathy Mann"'
Publikováno v:
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-11 (2017)
Abstract Background Traditional testing of miscarriage products involved culture of tissue followed by G-banded chromosome analysis; this approach has a high failure rate, is labour intensive and has a resolution of around 10 Mb. G-banded chromosome
Externí odkaz:
https://doaj.org/article/49c5dfa6e0394f4694e6bc7f1a71498c
Autor:
Rowena F. Stern, Roland G. Roberts, Kathy Mann, Shu C. Yau, Jonathan Berg, Caroline Mackie Ogilvie
Publikováno v:
BioTechniques, Vol 37, Iss 3, Pp 399-405 (2004)
The recent development of multiplex ligation-dependent probe amplification (MLPA) has provided an efficient and reliable assay for dosage screening of multiple loci in a single reaction. However, a drawback to this method is the time-consuming proces
Externí odkaz:
https://doaj.org/article/65101ad80b994909b8ae1253834b3f2e
Autor:
Mark Bateman, Katherine Lachlan, Muriel Holder-Espinasse, Kathy Mann, Justin H Davies, Ved Bhushan Arya, Sophia Sakka
Publikováno v:
Clinical Endocrinology. 92:487-489
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0fc8449d45a41a46c87ce59d7848488
https://doi.org/10.1111/cen.14160
https://doi.org/10.1111/cen.14160
Publikováno v:
Genetics Research
Objective Non-invasive prenatal testing (NIPT) is increasingly being adopted as a screening test in the UK and is currently accessed through certain National Health Service healthcare systems or by private provision. This audit aims to describe reaso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8339c5a5d18b74869ff0171638bc4be
https://pubmed.ncbi.nlm.nih.gov/32867862
https://pubmed.ncbi.nlm.nih.gov/32867862
Autor:
Ros Hastings, Erik A. Sistermans, Zandra C. Deans, Lucy Jenkins, Simon Patton, Stephanie Allen, Kathy Mann, Lyn S. Chitty, Farrah Khawaja
Publikováno v:
Prenatal Diagnosis. 37:699-704
Objective NIPT for trisomies 13, 18, and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here we aim to present minimum best
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::457d7ec7d6383fb4d8126addecd53bb3
https://doi.org/10.1002/pd.5068
https://doi.org/10.1002/pd.5068
Autor:
Shu Yau, Lee Silcock, Eugene Oteng-Ntim, Yvonne Daniel, Caroline Mackie Ogilvie, Kathy Mann, Joo Wook Ahn, Julia van Campen
Publikováno v:
British journal of haematologyReferences. 190(1)
Sickle cell disease (SCD) is the most common genetic haematological disorder. The availability of non-invasive prenatal diagnosis (NIPD) is predicted to increase uptake of prenatal diagnosis for SCD, as it has no perceived procedure-related miscarria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::438029a42eff5b73bb7332446a5cdbdb
https://pubmed.ncbi.nlm.nih.gov/32135023
https://pubmed.ncbi.nlm.nih.gov/32135023
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 1885
Autosomal chromosome aneuploid pregnancies that survive to term, namely, trisomies 13, 18, and 21, account for 89% of chromosome abnormalities with a severe phenotype. They are normally detected by full karyotype analysis of cultured cells. The avera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e0db924e19864d7db4a84c6a9c7f198e
https://pubmed.ncbi.nlm.nih.gov/30506196
https://pubmed.ncbi.nlm.nih.gov/30506196
Autor:
Kathy Mann, Dagmar Tapon, Anna Lawin O’Brien, Richard Ellis, Christoph Lees, Joo Wook Ahn, Caroline Mackie Ogilvie, Andrea Dall'Asta
Publikováno v:
Prenatal Diagnosis. 36:708-713
Background Few data exist describing laboratory related failure rates in prenatal diagnosis. The aim of this study is to assess the laboratory associated failure rate for karyotype, QF-PCR and CGH-array following amniocentesis in relation to gestatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1aaf353f342f2a3840ad741e03f7bbb2
https://doi.org/10.1002/pd.4843
https://doi.org/10.1002/pd.4843
Autor:
Zandra C, Deans, Stephanie, Allen, Lucy, Jenkins, Farrah, Khawaja, Ros J, Hastings, Kathy, Mann, Simon J, Patton, Erik A, Sistermans, Lyn S, Chitty
Publikováno v:
Prenatal Diagnosis
Objective Non‐invasive prenatal testing (NIPT) for trisomies 13, 18 and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Her
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d55f74700827d6010e7218615524d40f
https://pubmed.ncbi.nlm.nih.gov/28497584
https://pubmed.ncbi.nlm.nih.gov/28497584
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-11 (2017)
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-11 (2017)
Background Traditional testing of miscarriage products involved culture of tissue followed by G-banded chromosome analysis; this approach has a high failure rate, is labour intensive and has a resolution of around 10 Mb. G-banded chromosome analysis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e5e6bbb870da3198b6f0f7d67219c2a
https://pubmed.ncbi.nlm.nih.gov/28396697
https://pubmed.ncbi.nlm.nih.gov/28396697