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Imaging of DICER1 syndrome.
Guillerman RP, Foulkes WD, Priest JR. Guillerman RP, et al. Pediatr Radiol. 2019 Oct;49(11):1488-1505. doi: 10.1007/s00247-019-04429-x. Epub 2019 Oct 16. Pediatr Radiol. 2019. PMID: 31620849 Review.
DICER1 syndrome is a highly pleiotropic tumor predisposition syndrome that has been increasingly recognized in the last 10 years. ...Radiologists are often the first practitioners to observe these diverse manifestations and play a primary role in recognizing DICER1
DICER1 syndrome is a highly pleiotropic tumor predisposition syndrome that has been increasingly recognized in the last 10 years. ...
An update on the central nervous system manifestations of DICER1 syndrome.
de Kock L, Priest JR, Foulkes WD, Alexandrescu S. de Kock L, et al. Acta Neuropathol. 2020 Apr;139(4):689-701. doi: 10.1007/s00401-019-01997-y. Epub 2019 Apr 5. Acta Neuropathol. 2020. PMID: 30953130 Review.
DICER1 syndrome is a rare tumor predisposition syndrome with manifestations that predominantly affect children and young adults. ...Macrocephaly is a recently reported non-neoplastic, haploinsufficient phenotype. In this manuscript, we review the CNS manifestations of D
DICER1 syndrome is a rare tumor predisposition syndrome with manifestations that predominantly affect children and young adults. ...M
PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Schultz KAP, Rednam SP, Kamihara J, Doros L, Achatz MI, Wasserman JD, Diller LR, Brugières L, Druker H, Schneider KA, McGee RB, Foulkes WD. Schultz KAP, et al. Clin Cancer Res. 2017 Jun 15;23(12):e76-e82. doi: 10.1158/1078-0432.CCR-17-0629. Clin Cancer Res. 2017. PMID: 28620008 Free article. Review.
PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. ...Thyroid cancer represent …
PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleio …
DICER1: mutations, microRNAs and mechanisms.
Foulkes WD, Priest JR, Duchaine TF. Foulkes WD, et al. Nat Rev Cancer. 2014 Oct;14(10):662-72. doi: 10.1038/nrc3802. Epub 2014 Sep 1. Nat Rev Cancer. 2014. PMID: 25176334 Review.
Dicer is central to microRNA-mediated silencing and several other RNA interference phenomena that are profoundly embedded in cancer gene networks. Most recently, both germline and somatic mutations in DICER1 have been identified in diverse types of cancer. Although some of …
Dicer is central to microRNA-mediated silencing and several other RNA interference phenomena that are profoundly embedded in cancer gene net …
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome.
Apellaniz-Ruiz M, Segni M, Kettwig M, Glüer S, Pelletier D, Nguyen VH, Wagener R, López C, Muchantef K, Bouron-Dal Soglio D, Sabbaghian N, Wu MK, Zannella S, Fabian MR, Siebert R, Menke J, Priest JR, Foulkes WD. Apellaniz-Ruiz M, et al. N Engl J Med. 2019 May 9;380(19):1834-1842. doi: 10.1056/NEJMoa1812169. N Engl J Med. 2019. PMID: 31067372
Other cases remain unexplained. We describe two children with MHLs that harbored germline DICER1 pathogenic variants. Analysis of tumor tissue from one of the children revealed two DICER1 "hits." Mutations in DICER1 dysregulate microRNAs, mimicking the effect …
Other cases remain unexplained. We describe two children with MHLs that harbored germline DICER1 pathogenic variants. Analysis of tum …
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.
de Kock L, Wu MK, Foulkes WD. de Kock L, et al. Hum Mutat. 2019 Nov;40(11):1939-1953. doi: 10.1002/humu.23877. Epub 2019 Aug 17. Hum Mutat. 2019. PMID: 31342592
The encoded DICER1 protein is a key component of the microRNA processing pathway. ...We also address approaches to classification of DICER1 variants of uncertain significance and discuss the clinical significance of DICER1 variant identification....
The encoded DICER1 protein is a key component of the microRNA processing pathway. ...We also address approaches to classification of …
DICER1-associated central nervous system sarcoma in children: comprehensive clinicopathologic and genetic analysis of a newly described rare tumor.
Kamihara J, Paulson V, Breen MA, Laetsch TW, Rakheja D, Shulman DS, Schoettler ML, Clinton CM, Ward A, Reidy D, Pinches RS, Weiser DA, Mullen EA, Schienda J, Meyers PA, DuBois SG, Nowak JA, Foulkes WD, Schultz KAP, Janeway KA, Vargas SO, Church AJ. Kamihara J, et al. Mod Pathol. 2020 Oct;33(10):1910-1921. doi: 10.1038/s41379-020-0516-1. Epub 2020 Apr 14. Mod Pathol. 2020. PMID: 32291395
The spectrum of neoplasms associated with DICER1 variants continues to expand, with the recent addition of primary "DICER1-associated central nervous system sarcoma" (DCS). ...Tumor mutational burden was significantly higher in the 6 DCS tumors than in 14 other D
The spectrum of neoplasms associated with DICER1 variants continues to expand, with the recent addition of primary "DICER1-ass …
DICER1 gene mutations in endocrine tumors.
Solarski M, Rotondo F, Foulkes WD, Priest JR, Syro LV, Butz H, Cusimano MD, Kovacs K. Solarski M, et al. Endocr Relat Cancer. 2018 Mar;25(3):R197-R208. doi: 10.1530/ERC-17-0509. Epub 2018 Jan 12. Endocr Relat Cancer. 2018. PMID: 29330195 Review.
In this review, the importance of the DICER1 gene in the function of endocrine cells is discussed. There is conclusive evidence that DICER1 mutations play a crucial role in the development, progression, cell proliferation, therapeutic responsiveness and behavior of …
In this review, the importance of the DICER1 gene in the function of endocrine cells is discussed. There is conclusive evidence that …
Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations.
Chernock RD, Rivera B, Borrelli N, Hill DA, Fahiminiya S, Shah T, Chong AS, Aqil B, Mehrad M, Giordano TJ, Sheridan R, Rutter MM, Dehner LP, Foulkes WD, Nikiforov YE. Chernock RD, et al. Mod Pathol. 2020 Jul;33(7):1264-1274. doi: 10.1038/s41379-020-0458-7. Epub 2020 Jan 14. Mod Pathol. 2020. PMID: 31937902 Free PMC article.
WES was performed in five cases which confirmed all hotspot mutations and detected two tumors with additional inactivating DICER1 alterations. Of these two, one was a germline pathogenic DICER1 variant and the other had loss of heterozygosity for DICER1. ...T …
WES was performed in five cases which confirmed all hotspot mutations and detected two tumors with additional inactivating DICER1 alt …
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