Detalhe da pesquisa
1.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37979581
2.
Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis.
PLoS Genet
; 17(4): e1009112, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33819264
3.
Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development.
PLoS Genet
; 16(6): e1008792, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32579612
4.
NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models.
PLoS Genet
; 16(2): e1008590, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32053595
5.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genet Med
; 21(4): 816-825, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30190612
6.
Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.
PLoS Genet
; 12(5): e1005993, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27153221
7.
An image analysis method to quantify CFTR subcellular localization.
Mol Cell Probes
; 28(4): 175-80, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24561544
8.
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv
; 2023 May 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37292616
9.
Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion.
Genome Med
; 13(1): 163, 2021 10 18.
Artigo
Inglês
| MEDLINE | ID: mdl-34657631
10.
Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster.
Nat Commun
; 9(1): 2548, 2018 06 29.
Artigo
Inglês
| MEDLINE | ID: mdl-29959322
11.
Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster.
G3 (Bethesda)
; 6(5): 1427-37, 2016 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-26994292
12.
Conservation of CFTR codon frequency through primates suggests synonymous mutations could have a functional effect.
Mutat Res
; 775: 19-25, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25839760
13.
Clinical utility gene card for: 16p12.2 microdeletion.
Eur J Hum Genet
; 25(2)2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27848943
14.
Limitaciones de los estudios de genética molecular en el proceso diagnóstico de fibrosis quística / Limitations to molecular genetics studies during the cystic fibrosis diagnostic process
Rev. méd. Urug
; 27(3): 129-137, set. 2011. tab
Artigo
Espanhol
| LILACS | ID: lil-605215