Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Esther Dempsey"'
Autor:
Bobby K, Brar, Marisa Gilstrop, Thompson, Neeta L, Vora, Kelly, Gilmore, Karin, Blakemore, Kristen A, Miller, Jessica, Giordano, Andreas, Dufke, Beatrix, Wong, Samantha, Stover, Billie, Lianoglou, Ignatia, Van den Veyver, Esther, Dempsey, Mara, Rosner, Karen, Chong, David, Chitayat, Teresa N, Sparks, Mary E, Norton, Ronald, Wapner, Kristin, Baranano, Angie C, Jelin
Publikováno v:
Prenatal diagnosisREFERENCES. 42(13)
Tubulinopathies refer to conditions caused by genetic variants in isotypes of tubulin resulting in defective neuronal migration. Historically, diagnosis was primarily via postnatal imaging. Our objective was to establish the prenatal phenotype/genoty
Autor:
E Serra, Suzanne Drury, L Ive, Esther Dempsey, R Dubis, A Haworth, T Homfray, J Kenny, F Elmslie, H Savage, Sahar Mansour, E Greco, B. Thilaganathan
Publikováno v:
BJOG: An International Journal of Obstetrics & Gynaecology. 128:1012-1019
OBJECTIVE Studies have shown that prenatal exome sequencing (PES) improves diagnostic yield in cases of fetal structural malformation. We have retrospectively analysed PES cases from two of the largest fetal medicine centres in the UK to determine th
Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?
Autor:
Rhiannon Mellis, Dagmar Tapon, Nora Shannon, Esther Dempsey, Pranav Pandya, Lyn S. Chitty, Melissa Hill
OBJECTIVES: Prenatal exome sequencing (pES) for the diagnosis of fetal abnormalities is being introduced more widely in clinical practice. Here we explore parents' and professionals' views and experiences of pES, to identify perceived benefits, conce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd8240388d2cbf552de68aa13abcae6a
Autor:
Htoo A. Wai, Matthew Constable, Cosima Drewes, Ian C. Davies, Eliska Svobodova, Esther Dempsey, Anand Saggar, Tessa Homfray, Sahar Mansour, Sofia Douzgou, Kate Barr, Catherine Mercer, David Hunt, Andrew G. L. Douglas, Diana Baralle
Publikováno v:
Human mutation. 43(7)
Use of blood RNA sequencing (RNA-seq) as a splicing analysis tool for clinical interpretation of variants of uncertain significance (VUSs) found via whole-genome and exome sequencing can be difficult for genes that have low expression in the blood du
Autor:
Andrea Haworth, Tessa Homfray, Suzanne Drury, Rand Dubis, Meriel McEntagart, Kate Tatton Brown, Helen Savage, John Filby, Nick Lench, Eva Serra, Natalie Trump, Nayana Lahiri, Janna Kenny, Frances Elmslie, Phillip Ostrowski, Esther Dempsey, John Short, Charlene Crosby, Christine Hall, Sahar Mansour
Publikováno v:
Genetics in Medicine. 24:S226
Autor:
Asma Khalil, Tessa Homfray, Amar Bhide, Irina Branescu, Filomena Giulia Sileo, Esther Dempsey, Anay Kulkarni, Basky Thilaganathan, Sahar Mansour
OBJECTIVE: Fetal hydrops is associated with increased perinatal morbidity and mortality. The etiology and outcome of fetal hydrops may differ according to the gestational age at diagnosis. The aim of this study was to evaluate the cause, evolution an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::000486333ea89b64a5e509b92dcf9a53
https://openaccess.sgul.ac.uk/id/eprint/111835/6/uog.22019.pdf
https://openaccess.sgul.ac.uk/id/eprint/111835/6/uog.22019.pdf
Autor:
Jeremy Pryce, Tessa Homfray, Esther Dempsey, Basky Thilaganathan, Sahar Mansour, Suzanne Drury
Publikováno v:
Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 56(5)
Autor:
Wael I, Al-Daraji, Senem, Tugrul, Esther, Dempsey, Bettina, Zelger, Adel, Abdellaoui, Richard, Prescott, Bernhard, Zelger
Publikováno v:
Journal of cutaneous pathology. 37(9)
Ciclosporin A (CsA) is widely utilized for the treatment of inflammatory skin diseases such as psoriasis.The therapeutic effects of CsA are thought to be mediated via its immunosuppressive action on infiltrating lymphocytes in skin lesions. CsA and t
Autor:
Esther Dempsey
Publikováno v:
Transactions of the Kansas Academy of Science (1903-). 34:217
The genus Triosteum is a member of the Caprifoliaceae or honeysuckle family as well as such well known plants as the weigelas, the bush and vine honeysuckles, the coral-berry, the v'burnums and the elder, and also the slender creeping linnaea or twin