Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Amanda Alston"'
Autor:
Joshua Jesudunsin Ige Ige, Amanda Alston, Velmer Boreland, Megan Caudwell, Rhiannon Ashbourne, Bronwen Ford, Fortunate Katsere, Georgia Banham
Publikováno v:
BMJ Open Quality, Vol 13, Iss 4 (2024)
Care-planning is vital to the delivery of timely, person-centred, safe and effective care. Despite the understanding of the benefits of person-centred care-plan in both services, occupational therapists (OTs) within our forensic and rehabilitation se
Externí odkaz:
https://doaj.org/article/067684fb98db45688e2e6875de0451aa
Autor:
Susan Howell, Shanlee M. Davis, Talia Thompson, Mariah Brown, Tanea Tanda, Karen Kowal, Amanda Alston, Judith Ross, Nicole R. Tartaglia
Publikováno v:
Journal of genetic counselingREFERENCES.
Sex chromosome aneuploidies (SCAs), including 47,XXY, 47,XXX, 47,XYY, and supernumerary variants, occur collectively in approximately one of 500 live births. Clinical phenotypes are highly variable resulting in previous ascertainment rates estimated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0628d6e8cb7c8e132f257bc61e752ac6
https://pubmed.ncbi.nlm.nih.gov/36204975
https://pubmed.ncbi.nlm.nih.gov/36204975
Autor:
Talia Thompson, Mariah Brown, Judith L. Ross, Shanlee M Davis, Amanda Alston, Leah Crawford, Nicole Tartaglia, Jennifer Janusz, Susan Howell, Sophie van Rijn, Karen Kowal, Cristina Boada, Rebecca Wilson, Tanea Tanda
Publikováno v:
Am J Med Genet C Semin Med Genet
Sex chromosome trisomies (SCT), including Klinefelter syndrome/XXY, Trisomy X, and XYY syndrome, occur in 1 of every 500 births. The past decades of research have resulted in a broadening of known associated medical comorbidities as well as advances
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d75e3bd0292c358da5dba87c9a8904d
https://doi.org/10.1002/ajmg.c.31807
https://doi.org/10.1002/ajmg.c.31807
Autor:
Shanlee M Davis, Nicole Tartaglia, Karen Kowal, Amanda Alston, Talia Thompson, Judith L. Ross, Tanea Tanda, Susan Howell, Mariah Brown
Sex chromosome aneuploidies (SCAs), including 47,XXY, 47,XXX, 47,XYY, and supernumerary variants, occur collectively in approximately 1/500 livebirths. Clinical phenotypes are highly variable resulting in previous ascertainment rates have been estima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b2dd37d3da22989f9f87c5f3ece5b8f
https://doi.org/10.1101/2021.11.03.21265829
https://doi.org/10.1101/2021.11.03.21265829
Autor:
Alyssa Truxon, Karen Kowal, Amanda Alston, Luke Bloy, Shanlee M Davis, Aysha Tahsin, Judith L. Ross, Timothy P.L. Roberts
Publikováno v:
Am J Med Genet C Semin Med Genet
An additional Y chromosome occurs in ~1 in 1,000 males, resulting in the karyotype 47,XYY. The phenotype includes tall stature, hypotonia, neuropsychiatric comorbidities, and an increased risk of infertility in adulthood. Little is known about testic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::242cd5b0dd6ef51208ef782271417c94
https://europepmc.org/articles/PMC7413633/
https://europepmc.org/articles/PMC7413633/