Detalhe da pesquisa
1.
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.
Epilepsy Behav
; 147: 109436, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717460
2.
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Genet Med
; 24(4): 894-904, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35042660
3.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Epilepsia
; 61(7): e71-e78, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32645220
4.
Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition.
Epilepsy Behav
; 108: 107097, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32402703
5.
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Glycoconj J
; 36(6): 461-472, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31529350
6.
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
Epilepsia
; 59(12): 2260-2271, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30451291
7.
Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.
Epilepsia
; 58(6): e91-e95, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28471529
8.
PCDH19-related epilepsy in two mosaic male patients.
Epilepsia
; 57(3): e51-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26765483
9.
Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.
Epilepsia
; 56(5): e53-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847220
10.
Cognitive development in females with PCDH19 gene-related epilepsy.
Epilepsy Behav
; 42: 36-40, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25499160
11.
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease.
Genes (Basel)
; 15(5)2024 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790225
12.
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Hum Mutat
; 34(3): 525-37, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23280630
13.
A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets.
Endocr Metab Immune Disord Drug Targets
; 23(9): 1235-1239, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36847234
14.
Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report.
Brain Dev
; 45(8): 445-450, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37271660
15.
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
Epilepsia
; 53(12): 2111-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22946748
16.
MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
Seizure
; 101: 211-217, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36087421
17.
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.
Clin Chem
; 57(11): 1584-96, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21896784
18.
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
Epilepsia
; 52(7): 1251-7, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21480887
19.
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Genes (Basel)
; 12(8)2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440382
20.
Small-fibre pathology has no impact on somatosensory system function in patients with fibromyalgia.
Pain
; 161(10): 2385-2393, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32897040