Detalhe da pesquisa
1.
Prevalence of lung cysts in adolescents and adults with a germline DICER1 pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blastoma/DICER1 Registry.
Thorax
; 79(7): 644-651, 2024 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508719
2.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hum Mutat
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084291
3.
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.
J Med Genet
; 59(4): 346-350, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33782093
4.
Risk of cancer in heterozygous relatives of patients with Fanconi anemia.
Genet Med
; 24(1): 245-250, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906449
5.
Dental abnormalities in individuals with pathogenic germline variation in DICER1.
Am J Med Genet A
; 179(9): 1820-1825, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313479
6.
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study.
Pediatr Nephrol
; 33(12): 2281-2288, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178239
7.
Macrocephaly associated with the DICER1 syndrome.
Genet Med
; 19(2): 244-248, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27441995
8.
Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes.
J Genet Couns
; 24(5): 760-70, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25540896
9.
Hematologic indices in individuals with pathogenic germline DICER1 variants.
Blood Adv
; 5(1): 216-223, 2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33570641
10.
A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.
JAMA Netw Open
; 4(2): e210112, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33630087
11.
Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.
Br J Haematol
; 150(2): 179-88, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20507306
12.
Nasal chondromesenchymal hamartomas in a cohort with pathogenic germline variation in DICER1.
Rhinol Online
; 3: 15-24, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164613
13.
Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors.
Cancer Genet
; 248-249: 49-56, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33158809
14.
Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1.
J Clin Oncol
; 37(8): 668-676, 2019 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30715996
15.
Testicular cancer and genetics knowledge among familial testicular cancer family members.
J Genet Couns
; 17(4): 351-64, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18481162
16.
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.
J Clin Endocrinol Metab
; 102(5): 1614-1622, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28323992