Detalhe da pesquisa
1.
Bone health in children with Angelman syndrome at the ENCORE Expertise Center.
Eur J Pediatr
; 183(1): 103-111, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831301
2.
A Dutch paediatric palliative care guideline: a systematic review and evidence-based recommendations for symptom treatment.
BMC Palliat Care
; 23(1): 72, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38481215
3.
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.
J Med Genet
; 59(3): 305-312, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33685999
4.
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.
Am J Med Genet A
; 182(1): 53-63, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729827
5.
Tuberous sclerosis complex: Concerns and needs of patients and parents from the transitional period to adulthood.
Epilepsy Behav
; 83: 13-21, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29631156
6.
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.
Mol Genet Metab
; 114(3): 467-73, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25523067
7.
Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs.
Epilepsia
; 56(8): 1239-45, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26046563
8.
Outcome measures in Angelman syndrome.
J Neurodev Disord
; 16(1): 6, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38429713
9.
Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disability.
Am J Med Genet A
; 176(2): 492-495, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29226581
10.
ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.
Am J Med Genet A
; 161A(6): 1376-80, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613326
11.
Sleep problems in children with Angelman Syndrome: The effect of a behavioral intervention program.
Res Dev Disabil
; 135: 104444, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36753818
12.
Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome.
J Clin Med
; 12(18)2023 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37762921
13.
Challenges in body composition assessment using air-displacement plethysmography by BOD POD in pediatric and young adult patients.
Clin Nutr
; 42(9): 1588-1594, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37478812
14.
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Mol Genet Genomic Med
; 10(3): e1843, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150089
15.
Epidemiology of low bone mineral density and fractures in children with severe cerebral palsy: a systematic review.
Dev Med Child Neurol
; 51(10): 773-8, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19614941
16.
A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex.
Neurology
; 93(2): e200-e209, 2019 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31217257
17.
Sirolimus for epilepsy in children with tuberous sclerosis complex: A randomized controlled trial.
Neurology
; 87(10): 1011-8, 2016 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27511181
18.
Transferring young people with profound intellectual and multiple disabilities from pediatric to adult medical care: parents' experiences and recommendations.
Intellect Dev Disabil
; 51(3): 176-89, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23834214
19.
CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.
Neurology
; 86(9): 877-8, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26843564