Detalhe da pesquisa
1.
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Mol Genet Metab
; 135(4): 350-356, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279367
2.
DTYMK is essential for genome integrity and neuronal survival.
Acta Neuropathol
; 143(2): 245-262, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918187
3.
Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.
Am J Med Genet A
; 188(2): 569-578, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34773366
4.
Destination unknown: Parents and healthcare professionals' perspectives on transition from paediatric to adult care in Down syndrome.
J Appl Res Intellect Disabil
; 35(5): 1208-1216, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35665576
5.
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Am J Hum Genet
; 102(1): 44-57, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276004
6.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
7.
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
PLoS Genet
; 13(10): e1006864, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29069077
8.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(9): 2160-2161, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696996
9.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(6): 1295-1307, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349098
10.
Developmental dysplasia of the hip in children with Down syndrome: comparison of clinical and radiological examinations in a local cohort.
Eur J Pediatr
; 178(4): 559-564, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30710155
11.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097605
12.
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
J Med Genet
; 54(7): 460-470, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28377535
13.
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Genet Med
; 19(1): 45-52, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195816
14.
Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.
Clin Chem
; 68(5): 732-735, 2022 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189752
15.
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
J Inherit Metab Dis
; 39(5): 733-741, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27342130
16.
Callosal alterations in pyridoxine-dependent epilepsy.
Dev Med Child Neurol
; 56(11): 1106-10, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24942048
17.
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Mol Genet Metab
; 107(3): 335-44, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23022070
18.
The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.
J Inherit Metab Dis
; 35(5): 909-16, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22249334
19.
Long-term outcome in pyridoxine-dependent epilepsy.
Dev Med Child Neurol
; 54(9): 849-54, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22804844
20.
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Neurology
; 2022 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36008148