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1.
Development, behaviour and autism in individuals with SMC1A variants.
J Child Psychol Psychiatry
; 60(3): 305-313, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30295920
2.
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
Am J Med Genet A
; 173(5): 1172-1185, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28190301
3.
Phenotypes and genotypes in individuals with SMC1A variants.
Am J Med Genet A
; 173(8): 2108-2125, 2017 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-28548707
4.
Associations between behaviours that challenge in adults with intellectual disability, parental perceptions and parental mental health.
Br J Clin Psychol
; 56(4): 408-430, 2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-28801992
5.
Visual attention patterns during a gaze following task in neurogenetic syndromes associated with unique profiles of autistic traits: Fragile X and Cornelia de Lange syndromes.
Cortex
; 174: 110-124, 2024 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38502976
6.
Characteristics of autism spectrum disorder in Cornelia de Lange syndrome.
J Child Psychol Psychiatry
; 53(8): 883-91, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22490014
7.
The prevalence and profile of autism in Sturge-Weber syndrome.
J Autism Dev Disord
; 52(5): 1942-1955, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-34043129
8.
Executive function, repetitive behaviour and restricted interests in neurodevelopmental disorders.
Res Dev Disabil
; 122: 104166, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-35016127
9.
The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes.
Orphanet J Rare Dis
; 16(1): 488, 2021 11 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-34809685
10.
Prevalence and Risk-Markers of Self-Harm in Autistic Children and Adults.
J Autism Dev Disord
; 50(10): 3561-3574, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31655964
11.
Persistence and predictors of self-injurious behaviour in autism: a ten-year prospective cohort study.
Mol Autism
; 11(1): 8, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-31988707
12.
An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes.
J Autism Dev Disord
; 50(11): 4001-4010, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-32189229
13.
Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes.
J Neurodev Disord
; 11(1): 24, 2019 10 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31586495
14.
Stability of the autism diagnostic interview-revised from pre-school to elementary school age in children with autism spectrum disorders.
J Autism Dev Disord
; 38(6): 1081-91, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-18058215
15.
The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.
J Neurodev Disord
; 10(1): 2, 2018 01 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29329513
16.
Mental Health and Well-Being in Mothers of Children With Rare Genetic Syndromes Showing Chronic Challenging Behavior: A Cross-Sectional and Longitudinal Study.
Am J Intellect Dev Disabil
; 123(3): 241-253, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29671635
17.
Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.
Orphanet J Rare Dis
; 13(1): 185, 2018 10 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-30359268
18.
Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder.
J Neurodev Disord
; 9(1): 37, 2017 11 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29126394
19.
Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance.
J Neurodev Disord
; 9(1): 29, 2017 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28806899
20.
Self-injury and aggression in adults with tuberous sclerosis complex: Frequency, associated person characteristics, and implications for assessment.
Res Dev Disabil
; 64: 119-130, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28411579