Detalhe da pesquisa
1.
Telomere-lengthening germline variants predispose to a syndromic papillary thyroid cancer subtype.
Am J Hum Genet;
2024 Apr 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38688277
2.
Assessing thyroid cancer risk using polygenic risk scores.
Proc Natl Acad Sci U S A;
117(11): 5997-6002, 2020 03 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32132206
3.
Neuroendocrine and Adrenal Tumors, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
J Natl Compr Canc Netw;
19(7): 839-868, 2021 07 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34340212
4.
Variants in LRRC34 reveal distinct mechanisms for predisposition to papillary thyroid carcinoma.
J Med Genet;
57(8): 519-527, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32051256
5.
Hypertrophic cardiomyopathy genetic test reports: A qualitative study of patient understanding of uninformative genetic test results.
J Genet Couns;
28(6): 1087-1097, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31408576
6.
The role of SMAD3 in the genetic predisposition to papillary thyroid carcinoma.
Genet Med;
20(9): 927-935, 2018 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29300379
7.
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Nat Genet;
39(9): 1071-3, 2007 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17704777
8.
SDHA secondary findings in germline testing: counseling and surveillance considerations.
Endocr Oncol;
4(1): e230043, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38770192
9.
Presumed Pathogenic Germ Line and Somatic Variants in African American Thyroid Cancer.
Thyroid;
34(3): 378-387, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38062767
10.
Indolent behavior of malignant Bethesda III nodules compared to Bethesda V/VI nodules.
J Clin Endocrinol Metab;
2024 Feb 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38415340
11.
PDPR Gene Variants Predisposing to Papillary Thyroid Cancer.
Thyroid;
2024 Jan 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38062777
12.
CHEK2 Founder Variants and Thyroid Cancer Risk.
Thyroid;
34(4): 477-483, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38279823
13.
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Am J Hum Genet;
86(3): 454-61, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20206336
14.
Neurotransmitter abnormalities and response to supplementation in SPG11.
Mol Genet Metab;
107(1-2): 229-33, 2012 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22749184
15.
Genetic evaluation of patients and families with concern for hereditary endocrine tumor syndromes.
Fam Cancer;
21(1): 93-100, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33409929
16.
Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
Cancers (Basel);
14(10)2022 May 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35626031
17.
Transcriptome analysis discloses dysregulated genes in normal appearing tumor-adjacent thyroid tissues from patients with papillary thyroid carcinoma.
Sci Rep;
11(1): 14126, 2021 07 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34238982
18.
A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
Mol Genet Genomic Med;
9(5): e1641, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33943044
19.
HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: Challenges and opportunities in genetic counseling for hereditary endocrine neoplasia syndromes.
Endocr Relat Cancer;
27(8): T65-T75, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32106089
20.
Co-occurrence of multiple endocrine neoplasia type 4 and spinal neurofibromatosis: a case report.
Fam Cancer;
19(2): 189-192, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32052251