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pro vyhledávání: '"Sarah Aylett"'
Publikováno v:
Digital posters.
Autor:
Sarah Aylett
Publikováno v:
Digital posters.
Publikováno v:
Clinical Ethics. 18:215-223
Objectives During the COVID-19 pandemic, healthcare resources including staff were diverted from paediatric services to support COVID-positive adult patients. Hospital visiting restrictions and reductions in face-to-face paediatric care were also enf
Publikováno v:
Eur J Paediatr Neurol
Introduction Sturge Weber Syndrome (SWS) arises from a sporadic condition secondary to a post zygotic mutation in the GNAQ gene, manifested in the majority of cases by capillary malformation of the skin. Children present with seizures, acquired hemip
Publikováno v:
Digital posters.
Publikováno v:
Digital posters.
Autor:
Jenny, Sloneem, Jo, Moss, Sebastian, Powell, Christina, Hawkins, Tang, Fosi, Hanna, Richardson, Sarah, Aylett
Publikováno v:
Journal of autism and developmental disorders. 52(5)
A systematic retrospective case note review was undertaken to investigate autism diagnostic factors in 124 individuals with Sturge-Weber syndrome (SWS). Social Responsiveness Scale questionnaires were then analysed to explore the severity and profile
Autor:
Tangunu Fosi, Sebastian Powell, Christina Hawkins, Hanna Richardson, Jenny Sloneem, Sarah Aylett
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 34
This study of children with Sturge-Weber syndrome (SWS) profiled neurological presentations; compared patients with (+) and without (-) port-wine stain (PWS); and determined risk factors for intellectual and language impairments.A retrospective case
Autor:
Davide Zecchin, Nicole Knoepfel, Anna Gluck, Mark Stevenson, Kate E. Lines, Satyamaanasa Polubothu, Noreen Muwanga-Nanyonjo, Sara Barberan-Martin, Fanourios Michailidis, Dale Bryant, Ulrike Loebel, Asuka Inoue, Robert Semple, Sarah Aylett, Rajesh V. Thakker, Veronica A. Kinsler
Publikováno v:
Cancer Research. 82:851-851
Background: Oncogenic variants of GNAQ and GNA11 arising in embryonic or fetal development lead to a spectrum of congenital mosaic disorders including Sturge-Weber syndrome (SWS) and Phakomatosis Pigmentovascularis (PPV). Both SWS and PPV are charact
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 27
Background Sturge-Weber syndrome (SWS) is a congenital neurovascular disorder characterised by capillary-venous malformations involving the skin, brain and eye. Patients experience headache, however little is known about its characteristics or associ