Detalhe da pesquisa
1.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38325380
2.
An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies.
Int J Mol Sci
; 25(6)2024 Mar 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38542460
3.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Am J Hum Genet
; 107(6): 1157-1169, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33159883
4.
Comparison of Transcriptomic Changes in Survivors of Exertional Heat Illness with Malignant Hyperthermia Susceptible Patients.
Int J Mol Sci
; 24(22)2023 Nov 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38003313
5.
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Hum Mutat
; 42(7): 835-847, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33847015
6.
Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia.
J Biol Chem
; 295(45): 15226-15235, 2020 11 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32826313
7.
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
Hum Mol Genet
; 28(4): 598-614, 2019 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30335141
8.
The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels.
Am J Hum Genet
; 103(5): 769-776, 2018 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30388403
9.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29656860
10.
Investigating the genetic susceptibility to exertional heat illness.
J Med Genet
; 57(8): 531-541, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32054689
11.
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Hum Mutat
; 41(8): 1407-1424, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32383243
12.
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Am J Hum Genet
; 101(6): 995-1005, 2017 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29198722
13.
X-linked intellectual disability: Phenotypic expression in carrier females.
Clin Genet
; 97(3): 418-425, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31705537
14.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Mol Psychiatry
; 24(11): 1748-1768, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29728705
15.
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
Hum Mutat
; 40(11): 2021-2032, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31184401
16.
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling.
J Biol Chem
; 293(27): 10810-10824, 2018 07 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29769320
17.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artigo
Inglês
| MEDLINE | ID: mdl-26942287
18.
Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals.
Br J Anaesth
; 122(5): 613-621, 2019 May.
Artigo
Inglês
| MEDLINE | ID: mdl-30916033
19.
Identification and characterization of a missense mutation in the O-linked ß-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.
J Biol Chem
; 292(21): 8948-8963, 2017 05 26.
Artigo
Inglês
| MEDLINE | ID: mdl-28302723
20.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Am J Hum Genet
; 97(2): 302-10, 2015 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26166480