Detalhe da pesquisa
1.
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Am J Med Genet A
; 194(4): e63477, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37969032
2.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
3.
Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways.
Annu Rev Genomics Hum Genet
; 18: 115-142, 2017 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28859574
4.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
; 323(24): 2503-2511, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573669
5.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
6.
Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13 years of Clinical Experience in South Australia.
J Genet Couns
; 26(1): 159-172, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27443149
7.
Nogo receptor homolog NgR2 expressed in sensory DRG neurons controls epidermal innervation by interaction with Versican.
J Neurosci
; 34(5): 1633-46, 2014 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-24478347
8.
Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization.
Biol Psychiatry
; 95(2): 161-174, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37704042
9.
Neurons acetylate their way to migration.
EMBO Rep
; 17(12): 1674-1676, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27797856
10.
The Nogo-66 receptor family in the intact and diseased CNS.
Cell Tissue Res
; 349(1): 105-17, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22311207
11.
Mitochondrial single-stranded DNA binding protein is required for maintenance of mitochondrial DNA and 7S DNA but is not required for mitochondrial nucleoid organisation.
Biochim Biophys Acta
; 1803(8): 931-9, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20434493
12.
Impaired instrumental learning in Spred1-/- mice, a model for a rare RASopathy.
Genes Brain Behav
; 20(5): e12727, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33624414
13.
MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders.
Mol Autism
; 12(1): 53, 2021 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34311771
14.
Alpha2-Containing Glycine Receptors Promote Neonatal Spontaneous Activity of Striatal Medium Spiny Neurons and Support Maturation of Glutamatergic Inputs.
Front Mol Neurosci
; 11: 380, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30374290
15.
Loss of Nogo receptor homolog NgR2 alters spine morphology of CA1 neurons and emotionality in adult mice.
Front Behav Neurosci
; 8: 175, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24860456