Detalhe da pesquisa
1.
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Genet Med
; 25(9): 100897, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191094
2.
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
Hum Mol Genet
; 29(9): 1489-1497, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32307552
3.
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
Am J Hum Genet
; 104(6): 1233-1240, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130285
4.
Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.
Hum Mol Genet
; 28(9): 1474-1486, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30590535
5.
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Am J Hum Genet
; 101(4): 564-577, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965845
6.
Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.
PLoS Genet
; 13(7): e1006886, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28704368
7.
Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.
PLoS Genet
; 12(2): e1005709, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26872257
8.
Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development.
Cell Rep
; 28(13): 3320-3328.e4, 2019 09 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31553903
9.
Condensation approach to aliphatic oligourea foldamers: helices with N-(pyrrolidin-2-ylmethyl)ureido junctions.
Angew Chem Int Ed Engl
; 50(48): 11382-5, 2011 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-21976436
10.
Deletion of the App-Runx1 region in mice models human partial monosomy 21.
Dis Model Mech
; 8(6): 623-34, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26035870