Detalhe da pesquisa
1.
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Am J Hum Genet
; 108(4): 722-738, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798445
2.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
; 194(4): e63476, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974505
3.
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
Ann Neurol
; 89(2): 402-407, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33085104
4.
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Am J Med Genet A
; 179(12): 2447-2453, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31512363
5.
Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report.
J Transl Med
; 16(1): 23, 2018 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29409514
6.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Genet Med
; 20(1): 98-108, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28661489
7.
Defining the phenotypic spectrum of SLC6A1 mutations.
Epilepsia
; 59(2): 389-402, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315614
8.
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.
Am J Med Genet A
; 173(1): 225-230, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27683074
9.
Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.
Epilepsia
; 53(12): 2128-34, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23016767
10.
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Epilepsia
; 53(8): 1387-98, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22612257
11.
The Angelman Syndrome Online Registry - A multilingual approach to support global research.
Eur J Med Genet
; 64(12): 104349, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34619369
12.
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.
Neurol Genet
; 7(6): e641, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34786481
13.
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Brain Commun
; 3(4): fcab245, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34909687
14.
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
Eur J Med Genet
; 63(3): 103766, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31536827
15.
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Ann Clin Transl Neurol
; 6(4): 655-668, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31019990
16.
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.
Clin Case Rep
; 6(2): 420-425, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29445489
17.
Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production.
Nat Commun
; 9(1): 2958, 2018 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30054480
18.
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Neurology
; 86(10): 954-62, 2016 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26865513
19.
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Neurology
; 86(23): 2171-8, 2016 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27164704
20.
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.
Eur J Med Genet
; 57(9): 520-3, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24932903