Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Lucy Wilde"'
Autor:
Natali Bozhilova, Alice Welham, Dawn Adams, Stacey Bissell, Hilgo Bruining, Hayley Crawford, Kate Eden, Lisa Nelson, Christopher Oliver, Laurie Powis, Caroline Richards, Jane Waite, Peter Watson, Hefin Rhys, Lucy Wilde, Kate Woodcock, Joanna Moss
Publikováno v:
Molecular Autism, Vol 14, Iss 1, Pp 1-14 (2023)
Abstract Background Phenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual disability (ID), leading to diagnostic uncertainty and compromised access to autism-related support
Externí odkaz:
https://doaj.org/article/fce28d31c5f244df9e6075e9714859a7
Autor:
Georgie Agar, Stacey Bissell, Lucy Wilde, Nigel Over, Caitlin Williams, Caroline Richards, Chris Oliver
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)
Abstract Background Smith–Magenis syndrome (SMS) is a rare genetic syndrome associated with a unique profile of early morning waking and daytime sleepiness. Children with SMS evidence high rates of self-injury and aggression and have a preference f
Externí odkaz:
https://doaj.org/article/4f07f2373ce5487fab4cffa8322b407c
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 10, Iss 1, Pp 1-9 (2018)
Abstract Background Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. While SMS has a relativ
Externí odkaz:
https://doaj.org/article/a54f8cbf7f1d43b785f1ef6def864a83
Autor:
Mary Heald, Kate Woodcock, Caroline Richards, Joanna Moss, Chris Oliver, Hayley Crawford, Jane Waite, Debbie Allen, Alice Welham, Lucy Wilde, Dawn Adams
Publikováno v:
Paediatrics and Child Health. 30:416-424
Children and adults with severe intellectual disability and complex needs often show behaviours and distress that carers and professionals find difficult to identify causes for, manage and decrease. The prevailing view is that these behaviours and di
Autor:
Chris Oliver, Katherine Ellis, Georgie Agar, Stacey Bissell, Justin Cheuk Yin Chung, Hayley Crawford, Effie Pearson, Kelly Wade, Jane Waite, Debbie Allen, Lucy Deeprose, Georgina Edwards, Lauren Jenner, Breanne Kearney, Lauren Shelley, Kayla Smith, Hayley Trower, Dawn Adams, Louise Daniel, Laura Groves, Mary Heald, Jo Moss, Caroline Richards, Rachel Royston, Joanne Tarver, Alice Welham, Lucy Wilde, Kate Woodcock
Publikováno v:
Contemporary Issues in Evaluating Treatment Outcomes in Neurodevelopmental Disorders ISBN: 9780323988834
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e952a66a49a0eadef58ad1adc3963576
https://doi.org/10.1016/bs.irrdd.2022.05.004
https://doi.org/10.1016/bs.irrdd.2022.05.004
Autor:
Emily Goodman, Joanna Moss, Mary Heald, Effie Pearson, Sotaro Kita, Olivia Massey, Lucy Wilde, Chris Oliver
Publikováno v:
Journal of Intellectual Disability Research. 63:1078-1085
Autor:
Lucy Wilde, Gaia Scerif, Joanne D. Stockton, Pria Sandhu, Hayley Crawford, Chris Oliver, Lauren Shelley, Andrew D Beggs, Joseph P. McCleery
Publikováno v:
European Journal of Human Genetics
Methods employed in genome-wide association studies are not feasible ways to explore genotype–phenotype associations in rare disorders due to limited statistical power. An alternative approach is to examine relationships among specific single nucle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c77a2739eb235a945db1102cb87cbecd
http://wrap.warwick.ac.uk/140442/7/WRAP-Genetic-modifiers-rare-disorders-case-fragile-X-syndrome-Crawford-2020.pdf
http://wrap.warwick.ac.uk/140442/7/WRAP-Genetic-modifiers-rare-disorders-case-fragile-X-syndrome-Crawford-2020.pdf
Autor:
Olivia Massey, Chris Oliver, Emily Goodman, Mary Heald, Effie Pearson, Sotaro Kita, Lucy Wilde
Publikováno v:
Journal of Intellectual Disability Research. 62:666-671
Publikováno v:
Journal of Intellectual Disability Research. 62:1058-1071
Background Individuals with tuberous sclerosis complex (TSC) are at increased risk of developing self-injurious behaviour. The persistence of this deleterious behaviour over years is reported in aetiologically heterogeneous samples to be between 60%
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 10, Iss 1, Pp 1-9 (2018)
Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders
Background Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. While SMS has a relatively well-