Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome: a case report.
|
26795104 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
|
27477328 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?
|
28286253 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
|
28086757 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
|
28526761 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis.
|
28523199 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
|
29296277 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation
|
group |
CLINVAR |
Analysis of protein-coding genetic variation in 60,706 humans.
|
27535533 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.
|
26787237 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
Tailor-Made Protein Tyrosine Phosphatases: In Vitro Site-Directed Mutagenesis of PTEN and PTPRZ-B.
|
27514801 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy.
|
27626691 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation
|
group |
CLINVAR |
Characterisation of the Phosphatidylinositol 3-Kinase Pathway in Non-Small Cell Lung Cancer Cells Isolated from Pleural Effusions.
|
27082424 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation
|
group |
CLINVAR |
Cowden's syndrome with immunodeficiency.
|
26246517 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
|
25527629 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation
|
group |
CLINVAR |
Premalignant alterations in breast and endometrium associated with a PTEN mutation in a woman with Cowden syndrome: implications for preventive care.
|
26076150 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.160 |
Biomarker
|
group |
BEFREE |
PTEN is a tumor suppressor associated with an inherited cancer syndrome and an important regulator of ongoing neural connectivity and plasticity.
|
25288137 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation
|
group |
CLINVAR |
A global reference for human genetic variation.
|
26432245 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation
|
group |
CLINVAR |
KLLN epigenotype-phenotype associations in Cowden syndrome.
|
25669429 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
Cowden's syndrome with immunodeficiency.
|
26246517 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.160 |
CausalMutation
|
group |
CLINVAR |
Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.
|
25288137 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation
|
group |
CLINVAR |
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
|
25722288 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.160 |
GeneticVariation
|
group |
CLINVAR |
Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.
|
25288137 |
2015 |