Detalhe da pesquisa
1.
Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants.
Am J Hum Genet;
109(8): 1520-1533, 2022 08 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35931053
2.
Clinical Spectrum and Science Behind the Hamartomatous Polyposis Syndromes.
Gastroenterology;
164(5): 800-811, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36717037
3.
Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factors.
Genet Med;
: 101128, 2024 May 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38829299
4.
Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma.
Hum Mol Genet;
29(22): 3679-3690, 2021 01 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33326033
5.
WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition.
N Engl J Med;
382(22): 2103-2116, 2020 05 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32459922
6.
Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study.
J Am Acad Dermatol;
89(1): 90-98, 2023 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35143913
7.
PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation?
Hum Mol Genet;
29(R2): R150-R157, 2020 10 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32568377
8.
The Clinical Spectrum of PTEN Mutations.
Annu Rev Med;
71: 103-116, 2020 01 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31433956
9.
Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome.
Am J Hum Genet;
105(4): 813-821, 2019 10 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31564436
10.
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
PLoS Genet;
14(4): e1007352, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29684080
11.
Non-canonical role of cancer-associated mutant SEC23B in the ribosome biogenesis pathway.
Hum Mol Genet;
27(18): 3154-3164, 2018 09 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29893852
12.
Verbal memory dysfunction is associated with alterations in brain transcriptome in dominant temporal lobe epilepsy.
Epilepsia;
61(10): 2203-2213, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32945555
13.
Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma.
Hum Mol Genet;
26(2): 243-257, 2017 01 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28011713
14.
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
Am J Hum Genet;
97(5): 661-76, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26522472
15.
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
J Allergy Clin Immunol;
139(2): 607-620.e15, 2017 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27477328
16.
Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas.
Gastroenterology;
149(4): 886-9.e5, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26122142
17.
Thyroglobulin in Metastatic Thyroid Cancer: Culprit or Red Herring?
Am J Hum Genet;
100(3): 562-563, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28257694
18.
Cell-free DNA fragmentomics and second malignant neoplasm risk in patients with PTEN hamartoma tumor syndrome.
Cell Rep Med;
5(2): 101384, 2024 Feb 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38242121
19.
Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants.
Res Sq;
2023 Dec 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38168271
20.
Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome.
NPJ Genom Med;
8(1): 14, 2023 Jul 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37407629