Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe the clinical characteristics and underlying genetics of two unrelated girls with moderate developmental delay and dysmorphic features associated with novel mutations in PPM1D exon 5.
|
30795918 |
2019 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence and architecture of de novo mutations in developmental disorders.
|
28135719 |
2017 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
|
28343630 |
2017 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
|
28343630 |
2017 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and architecture of de novo mutations in developmental disorders.
|
28135719 |
2017 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
|
26823519 |
2016 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.
|
26847329 |
2016 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
|
26823519 |
2016 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.
|
26847329 |
2016 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
|
27479843 |
2016 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
|
27479843 |
2016 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
|
25356970 |
2015 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
|
25356970 |
2015 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.
|
24911145 |
2014 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.
|
24911145 |
2014 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
|
23242139 |
2013 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
|
23242139 |
2013 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents.
|
22065775 |
2012 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents.
|
22065775 |
2012 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.
|
18265945 |
2008 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.
|
18265945 |
2008 |