Detalhe da pesquisa
1.
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.
J Hum Genet
; 69(2): 91-99, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38102195
2.
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome.
J Hum Genet
; 68(1): 25-31, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36257979
3.
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.
J Hum Genet
; 68(7): 499-505, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36894704
4.
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.
J Hum Genet
; 67(7): 387-392, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35067677
5.
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.
J Hum Genet
; 67(5): 303-306, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999728
6.
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
J Hum Genet
; 66(12): 1185-1187, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34112922
7.
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
J Hum Genet
; 66(11): 1061-1068, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958710
8.
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Clin Genet
; 100(1): 40-50, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33644862
9.
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy.
J Hum Genet
; 65(10): 921-925, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483275
10.
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly.
J Hum Genet
; 64(11): 1127-1132, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31420595
11.
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.
J Hum Genet
; 64(4): 313-322, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655572
12.
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.
Hum Genet
; 137(1): 95-104, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29322246
13.
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
J Hum Genet
; 60(12): 739-42, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26354034
14.
[Recurrent posterior reversible encephalopathy due to vasospasm and cerebral hypoperfusionin in acute leukemia: a case report].
No To Hattatsu
; 47(6): 449-53, 2015 Nov.
Artigo
em Japonês
| MEDLINE | ID: mdl-26717647
15.
Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome.
Front Pediatr
; 12: 1360867, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38628357
16.
A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay.
Brain Dev
; 44(2): 178-183, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34598833
17.
Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation.
Brain Dev
; 44(2): 161-165, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34750010
18.
Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance.
Brain Dev
; 43(3): 470-474, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199157
19.
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
Brain Dev
; 43(9): 945-951, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34092405
20.
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.
Mol Genet Genomic Med
; 8(3): e1145, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31953910