Found: 30
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DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 564, doi. 10.1038/ejhg.2013.215
- By:
- Publication type:
- Article
Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Exploring the Association Between DICER1 Mutations and Differentiated Thyroid Carcinoma.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Analysis of the gene coding for the BRCA2-Interacting protein PALB2 in hereditary prostate cancer.
- Published in:
- Prostate, 2008, v. 68, n. 6, p. 675, doi. 10.1002/pros.20729
- By:
- Publication type:
- Article
Germ-line and somatic DICER1 mutations in pineoblastoma.
- Published in:
- Acta Neuropathologica, 2014, v. 128, n. 4, p. 583, doi. 10.1007/s00401-014-1318-7
- By:
- Publication type:
- Article
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.
- Published in:
- Acta Neuropathologica, 2014, v. 128, n. 1, p. 111, doi. 10.1007/s00401-014-1285-z
- By:
- Publication type:
- Article
Clinical Outcomes and Complications of Pituitary Blastoma.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. 351, doi. 10.1210/clinem/dgaa857
- By:
- Publication type:
- Article
Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases.
- Published in:
- 2009
- By:
- Publication type:
- Report
Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2024, v. 484, n. 6, p. 1023, doi. 10.1007/s00428-024-03759-y
- By:
- Publication type:
- Article
A child with neuroblastoma and metachronous anaplastic sarcoma of the kidney: Underlying DICER1 syndrome?
- Published in:
- 2020
- By:
- Publication type:
- case study
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?
- Published in:
- 2018
- By:
- Publication type:
- journal article
Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.
- Published in:
- Genes, Chromosomes & Cancer, 2013, v. 52, n. 5, p. 480, doi. 10.1002/gcc.22045
- By:
- Publication type:
- Article
DICER1 Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors.
- Published in:
- JAMA: Journal of the American Medical Association, 2011, v. 305, n. 1, p. 68, doi. 10.1001/jama.2010.1910
- By:
- Publication type:
- Article
Functional and phenotypic consequences of an unusual inversion in MSH2.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis.
- Published in:
- Familial Cancer, 2023, v. 22, n. 4, p. 487, doi. 10.1007/s10689-023-00336-1
- By:
- Publication type:
- Article
Ovarian small cell carcinoma in one of a pair of monozygous twins.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Analysis of the Novel Fanconi Anemia Gene SLX4/ FANCP in Familial Breast Cancer Cases.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 70, doi. 10.1002/humu.22206
- By:
- Publication type:
- Article
Rare germline mutations in PALB2 and breast cancer risk: A population-based study.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 674, doi. 10.1002/humu.22022
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- Publication type:
- Article
Extending the phenotypes associated with DICER1 mutations.
- Published in:
- Human Mutation, 2011, v. 32, n. 12, p. 1381, doi. 10.1002/humu.21600
- By:
- Publication type:
- Article
Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries.
- Published in:
- Congenital Heart Disease, 2018, v. 13, n. 3, p. 401, doi. 10.1111/chd.12578
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- Publication type:
- Article
Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome.
- Published in:
- Genes, Chromosomes & Cancer, 2019, v. 58, n. 8, p. 602, doi. 10.1002/gcc.22728
- By:
- Publication type:
- Article
Multiple DICER1‐related tumors in a child with a large interstitial 14q32 deletion.
- Published in:
- Genes, Chromosomes & Cancer, 2018, v. 57, n. 5, p. 223, doi. 10.1002/gcc.22523
- By:
- Publication type:
- Article
DICER1 platform domain missense variants inhibit miRNA biogenesis and lead to tumor susceptibility.
- Published in:
- NAR Cancer, 2023, v. 5, n. 3, p. 1, doi. 10.1093/narcan/zcad030
- By:
- Publication type:
- Article
Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.
- Published in:
- BMC Medical Genomics, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8794-6-48
- By:
- Publication type:
- Article
Contribution of the PALB2 c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-5
- By:
- Publication type:
- Article
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A novel DICER1 mutation in familial multinodular goitre.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.
- Published in:
- BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-127
- By:
- Publication type:
- Article
Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion.
- Published in:
- European Journal of Endocrinology, 2018, v. 178, n. 2, p. K11, doi. 10.1530/EJE-17-0904
- By:
- Publication type:
- Article