Detalhe da pesquisa
1.
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Clin Genet
; 98(6): 555-561, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32869858
2.
A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice.
Clin Chem
; 69(1): 17-20, 2023 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36598549
3.
Local genotype influences DNA methylation at two asthma-associated regions, 5q31 and 17q21, in a founder effect population.
J Med Genet
; 53(4): 232-41, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26671913
4.
Sex- and age-dependent DNA methylation at the 17q12-q21 locus associated with childhood asthma.
Hum Genet
; 132(7): 811-22, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23546690
5.
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.
Mol Genet Genomic Med
; 11(4): e2117, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36426412
6.
The diagnostic yield of CGH and WES in neurodevelopmental disorders.
Front Pediatr
; 11: 1133789, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36937954
7.
Identification of novel interacts partners of ADAR1 enzyme mediating the oncogenic process in aggressive breast cancer.
Sci Rep
; 13(1): 8341, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37221310
8.
Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines.
Hum Genet
; 131(7): 1161-71, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22271045
9.
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay.
Mol Genet Genomic Med
; 10(8): e1969, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35611801
10.
Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles.
Front Genet
; 13: 994509, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36061207
11.
Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach.
Front Genet
; 13: 1047474, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36406136
12.
Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.
Mol Syndromol
; 12(3): 133-140, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34177428
13.
Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish.
Front Cell Dev Biol
; 9: 736960, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34660594
14.
Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia.
Front Genet
; 12: 630787, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33613643
15.
Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum.
Genes (Basel)
; 12(2)2021 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33672558
16.
Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.
Ann Clin Transl Neurol
; 7(6): 956-964, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32431071
17.
MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature.
J Pediatr Endocrinol Metab
; 32(4): 409-413, 2019 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30796847
18.
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.
Biol Sex Differ
; 9(1): 10, 2018 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29463315
19.
Role of DNA methylation in expression control of the IKZF3-GSDMA region in human epithelial cells.
PLoS One
; 12(2): e0172707, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28241063