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Page 1
Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features.
Sloan EA, Hilz S, Gupta R, Cadwell C, Ramani B, Hofmann J, Kline CN, Banerjee A, Reddy A, Oberheim Bush NA, Chang S, Braunstein S, Chang EF, Raffel C, Gupta N, Sun PP, Kim JYH, Moes G, Alva E, Li R, Bruggers CS, Alashari M, Wetmore C, Garg S, Dishop M, Van Ziffle J, Onodera C, Devine P, Grenert JP, Lee JC, Phillips JJ, Pekmezci M, Tihan T, Bollen AW, Berger MS, Costello JF, Perry A, Solomon DA. Sloan EA, et al. Among authors: dishop m. Acta Neuropathol. 2020 May;139(5):953-957. doi: 10.1007/s00401-020-02144-8. Epub 2020 Mar 10. Acta Neuropathol. 2020. PMID: 32157385 Free PMC article. No abstract available.
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.
de Kock L, Sabbaghian N, Plourde F, Srivastava A, Weber E, Bouron-Dal Soglio D, Hamel N, Choi JH, Park SH, Deal CL, Kelsey MM, Dishop MK, Esbenshade A, Kuttesch JF, Jacques TS, Perry A, Leichter H, Maeder P, Brundler MA, Warner J, Neal J, Zacharin M, Korbonits M, Cole T, Traunecker H, McLean TW, Rotondo F, Lepage P, Albrecht S, Horvath E, Kovacs K, Priest JR, Foulkes WD. de Kock L, et al. Among authors: dishop mk. Acta Neuropathol. 2014 Jul;128(1):111-22. doi: 10.1007/s00401-014-1285-z. Epub 2014 May 20. Acta Neuropathol. 2014. PMID: 24839956 Free PMC article.
Extending the phenotypes associated with DICER1 mutations.
Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Choong CS, Charles A, Frieder RP, Dishop MK, Graf N, Ekim M, Bouron-Dal Soglio D, Arseneau J, Young RH, Sabbaghian N, Srivastava A, Tischkowitz MD, Priest JR. Foulkes WD, et al. Among authors: dishop mk. Hum Mutat. 2011 Dec;32(12):1381-4. doi: 10.1002/humu.21600. Epub 2011 Oct 11. Hum Mutat. 2011. PMID: 21882293
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Perrier S, Gauquelin L, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez-Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G. Perrier S, et al. Among authors: dishop mk. Neurol Genet. 2020 May 11;6(3):e425. doi: 10.1212/NXG.0000000000000425. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32582862 Free PMC article.
Flip-flop lung. An unusual etiology of bronchiectasis.
Liptzin DR, Fan LL, Stillwell PC, Dannull KA, Fadell MF, Partrick DA, Dishop MK. Liptzin DR, et al. Am J Respir Crit Care Med. 2014 Oct 15;190(8):e29. doi: 10.1164/rccm.201403-0533IM. Am J Respir Crit Care Med. 2014. PMID: 25317474 Free PMC article. No abstract available.
A Long-Term Survivor With Alveolar Capillary Dysplasia.
Yost CE, Putnam AR, Dishop MK, Jorgensen LO, Wirkus PE, Day RW. Yost CE, et al. Among authors: dishop mk. JACC Case Rep. 2020 Jul 29;2(10):1492-1495. doi: 10.1016/j.jaccas.2020.05.055. eCollection 2020 Aug. JACC Case Rep. 2020. PMID: 34317003 Free PMC article.
Diffuse Lung Disease in Biopsied Children 2 to 18 Years of Age. Application of the chILD Classification Scheme.
Fan LL, Dishop MK, Galambos C, Askin FB, White FV, Langston C, Liptzin DR, Kroehl ME, Deutsch GH, Young LR, Kurland G, Hagood J, Dell S, Trapnell BC, Deterding RR; Children’s Interstitial and Diffuse Lung Disease Research Network (chILDRN). Fan LL, et al. Ann Am Thorac Soc. 2015 Oct;12(10):1498-505. doi: 10.1513/AnnalsATS.201501-064OC. Ann Am Thorac Soc. 2015. PMID: 26291470 Free PMC article.
95 results