Detalhe da pesquisa
1.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31031012
2.
NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia.
Circ J
; 84(7): 1183-1188, 2020 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32522903
3.
Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis.
Cytogenet Genome Res
; 153(1): 1-9, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29073611
4.
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.
J Hum Genet
; 61(4): 335-43, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26740234
5.
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.
J Hum Genet
; 60(4): 175-82, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25608832
6.
Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.
Genet Med
; 16(12): 903-12, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24810686
7.
Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability.
Hum Genome Var
; 11(1): 13, 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38548799
8.
Haploinsufficiency of NSD1 causes Sotos syndrome.
Nat Genet
; 30(4): 365-6, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11896389
9.
Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study.
Brain Dev
; 45(7): 390-394, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36922284
10.
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.
Hum Genome Var
; 10(1): 4, 2023 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36726007
11.
A novel HECW2 variant in an infant with congenital long QT syndrome.
Hum Genome Var
; 10(1): 17, 2023 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37280227
12.
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hum Genet
; 131(1): 99-110, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21735175
13.
Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.
J Hum Genet
; 57(3): 191-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22258158
14.
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
J Hum Genet
; 57(3): 207-11, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22301465
15.
MBTPS2 mutation causes BRESEK/BRESHECK syndrome.
Am J Med Genet A
; 158A(1): 97-102, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22105905
16.
MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM.
Hum Genome Var
; 9(1): 2, 2022 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35034956
17.
Wisconsin syndrome with brain volume laterality: a case report and review of the literature.
J Med Case Rep
; 16(1): 153, 2022 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35428363
18.
Novel NARS2 variant causing leigh syndrome with normal lactate levels.
Hum Genome Var
; 9(1): 12, 2022 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35508527
19.
Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.
J Clin Neuromuscul Dis
; 24(1): 49-54, 2022 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36005473
20.
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.
J Hum Genet
; 56(8): 609-12, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21753767