Zobrazeno 1 - 10
of 39
pro vyhledávání: '"MaryAnne Aitken"'
Autor:
MaryAnne Aitken, Susan Donath, Martin B. Delatycki, Sylvia A Metcalfe, Jan Hodgson, Loane Skene, Jane Halliday, Ingrid Winship, Clara Gaff
Publikováno v:
European Journal of Human Genetics. 24:356-360
When an inherited genetic condition is diagnosed in an individual it has implications for other family members. Privacy legislation and ethical considerations can restrict health professionals from communicating directly with other family members, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5098e9a9cbac800d20a834d693765c6a
https://doi.org/10.1038/ejhg.2015.122
https://doi.org/10.1038/ejhg.2015.122
Autor:
Belinda J McClaren, David J. Amor, MaryAnne Aitken, John Massie, Sylvia A Metcalfe, Obioha C Ukoumunne
Publikováno v:
Genetics in Medicine. 15:533-540
Newborn screening for cystic fibrosis is increasingly available, but cascade testing following the diagnosis in a child has received little attention. We previously reported low levels of cascade testing over time, and this study investigated motivat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f1db33b2ff662dc85ec01ea4957f27
https://doi.org/10.1038/gim.2012.175
https://doi.org/10.1038/gim.2012.175
Autor:
Jane Halliday, Amy Nisselle, Michelle Wolthuizen, Katie Allen, MaryAnne Aitken, Sylvia A Metcalfe, Martin B. Delatycki
Publikováno v:
Genetic Testing and Molecular Biomarkers. 17:21-24
Hemochromatosis is a common disorder of iron overload most commonly due to homozogosity for the HFE C282Y substitution. A workplace-screening program was conducted in which over 11,000 individuals were screened for this mutation. A substudy of this p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f967e622b3b2d40caac854fcc6b803a
https://doi.org/10.1089/gtmb.2012.0247
https://doi.org/10.1089/gtmb.2012.0247
Autor:
Sylvia A Metcalfe, MaryAnne Aitken, Chriselle Hickerton, Michelle Wolthuizen, Katrina J. Allen, M. B. Delatycki
Publikováno v:
Clinical Genetics. 84:286-289
Hereditary hemochromatosis (HH) is a common preventable disorder of iron overload that can result in liver cirrhosis and reduced lifespan. Most HH is due to homozygosity for the HFE p.C282Y substitution. We conducted a study of screening for p.C282Y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b662fd03f4d33f6a8c609963cdfa5627
https://doi.org/10.1111/cge.12053
https://doi.org/10.1111/cge.12053
Autor:
Lyndal Bond, Joanna Craven, Veronica Collins, Martin B. Delatycki, MaryAnne Aitken, Sarah E.M. Stephenson, Sylvia A Metcalfe, Elizabeth Varley, Paul J. Lockhart, Katrina J. Allen, M. Kaye Trembath, Ivan Macciocca, Lyle C. Gurrin, Michelle Wolthuizen, Gabrielle R. Wilson, Chriselle Hickerton
Publikováno v:
ResearcherID
As the results of the Human Genome Project are realised, screening for genetic mutations that predispose to preventable disease is becoming increasingly possible. How and where such screening should best be offered are critical, unanswered questions.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4f5fde044331f2b1f5731c77e43ef44
https://doi.org/10.1038/ejhg.2011.247
https://doi.org/10.1038/ejhg.2011.247
Publikováno v:
Genetics in Medicine. 14:122-128
The aim of this study was to investigate the uptake of genetic testing by at-risk family members for four genetic conditions: chromosomal translocations, fragile X syndrome, Huntington disease, and spinal muscular atrophy. A clinical audit was undert
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7377df5c9e7c5568234ebbd4c66927bd
https://doi.org/10.1038/gim.2011.3
https://doi.org/10.1038/gim.2011.3
Publikováno v:
Journal of Community Genetics. 1:175-183
To support developments in genetics education, we constructed the GPGeneQ questionnaire to assess skills required for the practice of genetics by general practitioners (GPs). We describe the process of developing and validating this questionnaire to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd9170a8ff13bffefb6a327afa839cf8
https://doi.org/10.1007/s12687-010-0027-8
https://doi.org/10.1007/s12687-010-0027-8
Publikováno v:
Journal of Genetic Counseling. 19:640-652
Prenatal genetic counselors work with clients who are at risk of having a child with a fetal anomaly, or who have been diagnosed with a fetal anomaly. This can raise challenging ethical, moral and legal issues for both clients and counselors. Few stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f65849834c2c5a7694bc2b3244b50e42
https://doi.org/10.1007/s10897-010-9315-z
https://doi.org/10.1007/s10897-010-9315-z
Autor:
Liane Ioannou, Sharon Lewis, Vicki Petrou, John Massie, Sylvia A Metcalfe, MaryAnne Aitken, Martin B. Delatycki, AA Gason, Agnes Bankier
Publikováno v:
Clinical Genetics. 78:21-31
A screening programme for Tay Sachs disease (TSD) carrier status was introduced in high schools in Victoria, Australia in 1997, and was expanded to screen for six other genetic conditions common in the Ashkenazi Jewish population in 2008. The aim of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac04a2d60a6a87a0b3a70611a6641614
https://doi.org/10.1111/j.1399-0004.2010.01459.x
https://doi.org/10.1111/j.1399-0004.2010.01459.x
Autor:
Gabrielle R. Wilson, J Craven, Lyndal Bond, Ivan Macciocca, Martin B. Delatycki, MaryAnne Aitken, Sylvia A Metcalfe, Paul J. Lockhart, Veronica Collins, Michelle Wolthuizen, Elizabeth Varley, Katrina J. Allen
Publikováno v:
Clinical Genetics. 77:241-248
Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an iron overload disorder that can result in severe morbidity including hepatic cirrhosis. Predisposition to HH is easily diagnosed and morbidity is preventable by maintain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6ca924cef589d62858f9d32c225fc6a
https://doi.org/10.1111/j.1399-0004.2009.01308.x
https://doi.org/10.1111/j.1399-0004.2009.01308.x