|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
|
28386848 |
2018 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.
|
28667884 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
|
28941052 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.
|
27701732 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
|
27991732 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
|
26866722 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
|
24614070 |
2014 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
|
22495306 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
|
21844811 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The DNMT3 family of mammalian de novo DNA methyltransferases.
|
21507354 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes.
|
20651149 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.
|
20228804 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The NCBI BioSystems database.
|
19854944 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.
|
20729844 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
DNMT3A mutations in acute myeloid leukemia.
|
21067377 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
|
19344873 |
2009 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons.
|
17878930 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Coordinate regulation of DNA methyltransferase expression during oogenesis.
|
17445268 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse.
|
16725135 |
2006 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The Polycomb group protein EZH2 directly controls DNA methylation.
|
16357870 |
2006 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.
|
16501171 |
2006 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system.
|
15672446 |
2005 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
DNA methyltransferase expression in the mouse germ line during periods of de novo methylation.
|
15739230 |
2005 |