Detalhe da pesquisa
1.
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.
Neurogenetics
; 25(1): 3-11, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882972
2.
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
3.
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
Am J Med Genet A
; 194(3): e63453, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37870493
4.
Long-term clinical observation of patients with heterozygous KIF1A variants.
Am J Med Genet A
; : e63656, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38760879
5.
Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.
Endocr J
; 71(1): 75-81, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37989294
6.
Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndrome.
Ann Hum Genet
; 87(4): 196-202, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36970932
7.
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
Am J Hum Genet
; 106(4): 549-558, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32169168
8.
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.
J Hum Genet
; 68(4): 291-298, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36536096
9.
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
10.
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
11.
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients.
Int J Mol Sci
; 24(18)2023 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761981
12.
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation.
Neurogenetics
; 23(2): 129-135, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35147852
13.
Elucidation of pathological mechanism caused by human disease mutation in CaMKIIß.
J Neurosci Res
; 100(3): 880-896, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35043465
14.
ACAN biallelic variants in a girl with severe idiopathic short stature.
J Hum Genet
; 67(8): 481-486, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35314765
15.
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
16.
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
17.
Generation of Flag/DYKDDDDK Epitope Tag Knock-In Mice Using i-GONAD Enables Detection of Endogenous CaMKIIα and ß Proteins.
Int J Mol Sci
; 23(19)2022 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233218
18.
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Hum Mutat
; 42(1): 66-76, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131106
19.
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hum Mol Genet
; 28(14): 2319-2329, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30985895
20.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet
; 140(7): 1109-1120, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33944996