Detalhe da pesquisa
1.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 61(6): 503-519, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471765
2.
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Nat Rev Genet
; 19(10): 649-666, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29995837
3.
Direct assessment of overnight parent-child proximity in children with behavioral insomnia: Extending models of operant and classical conditioning.
Behav Sleep Med
; 21(3): 254-272, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796281
4.
Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020.
Am J Med Genet A
; 188(3): 1005-1014, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34877788
5.
Acquired mild cognitive impairment in adults with Down syndrome: Age-related prevalence derived from single point assessment data normed by degree of intellectual disability.
Int J Geriatr Psychiatry
; 37(2)2021 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34994494
6.
Anxiety characteristics in individuals with Williams syndrome.
J Appl Res Intellect Disabil
; 34(4): 1098-1107, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33561900
7.
Communication in Angelman syndrome: a scoping review.
Dev Med Child Neurol
; 61(11): 1266-1274, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31074506
8.
Temper outbursts in Lowe syndrome: Characteristics, sequence, environmental context and comparison to Prader-Willi syndrome.
J Appl Res Intellect Disabil
; 32(5): 1216-1227, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31144417
9.
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
Am J Med Genet A
; 173(6): 1566-1574, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28425213
10.
Phenotypes and genotypes in individuals with SMC1A variants.
Am J Med Genet A
; 173(8): 2108-2125, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28548707
11.
Distress in people with severe disability: the unmet challenge.
Dev Med Child Neurol
; 64(4): 401-402, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35239192
12.
Behaviour in Cornelia de Lange syndrome: a systematic review.
Dev Med Child Neurol
; 59(4): 361-366, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27988966
13.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28801992
14.
A Comparison of Two Methods for Recruiting Children with an Intellectual Disability.
J Appl Res Intellect Disabil
; 30(4): 696-704, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27324565
15.
Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow-up.
Am J Med Genet C Semin Med Genet
; 169(2): 188-97, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25989416
16.
A national survey of Rett syndrome: age, clinical characteristics, current abilities, and health.
Am J Med Genet A
; 167(7): 1493-500, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25820775
17.
The behavioral characteristics of Sotos syndrome.
Am J Med Genet A
; 167A(12): 2945-56, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26418839
18.
Behavioral characteristics associated with 19p13.2 microdeletions.
Am J Med Genet A
; 167A(10): 2334-43, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26189583
19.
Are Angelman and Prader-Willi syndromes more similar than we thought? Food-related behavior problems in Angelman, Cornelia de Lange, fragile X, Prader-Willi and 1p36 deletion syndromes.
Am J Med Genet A
; 167A(3): 572-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691410
20.
Practitioner Review: Self-injurious behaviour in children with developmental delay.
J Child Psychol Psychiatry
; 56(10): 1042-54, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25916173