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Page 1
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA. Parisi MA, et al. Among authors: shaw dw. J Med Genet. 2006 Apr;43(4):334-9. doi: 10.1136/jmg.2005.036608. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155189 Free PMC article.
Reply.
Wright JN, Shaw DWW, Ishak G, Perez FA, Doherty D. Wright JN, et al. AJNR Am J Neuroradiol. 2020 Aug;41(8):E61. doi: 10.3174/ajnr.A6673. Epub 2020 Jun 25. AJNR Am J Neuroradiol. 2020. PMID: 32586961 Free PMC article. No abstract available.
Cerebellar Watershed Injury in Children.
Wright JN, Shaw DWW, Ishak G, Doherty D, Perez F. Wright JN, et al. AJNR Am J Neuroradiol. 2020 May;41(5):923-928. doi: 10.3174/ajnr.A6532. Epub 2020 Apr 23. AJNR Am J Neuroradiol. 2020. PMID: 32327437 Free PMC article.
Tract-based spatial statistical analysis of diffusion tensor imaging in pediatric patients with mitochondrial disease: widespread reduction in fractional anisotropy of white matter tracts.
Ishak GE, Poliakov AV, Poliachik SL, Saneto RP, Novotny EJ Jr, McDaniel S, Ojemann JG, Shaw DW, Friedman SD. Ishak GE, et al. Among authors: shaw dw. AJNR Am J Neuroradiol. 2012 Oct;33(9):1726-30. doi: 10.3174/ajnr.A3045. Epub 2012 Apr 12. AJNR Am J Neuroradiol. 2012. PMID: 22499843 Free PMC article.
Hydroxyurea to prevent brain injury in children with sickle cell disease (HU Prevent)-A randomized, placebo-controlled phase II feasibility/pilot study.
Casella JF, Furstenau DK, Adams RJ, Brambilla DJ, Lebensburger JD, Fehr JJ, Jordan LC, King AA, Ichord RN, McKinstry RC, Kraut MA, Shaw DW, White DA, Whyte-Stewart DA, Avadhani R, Barron-Casella EA, Cannon AD, Eaton CK, Riekert KA, Shay JE, Smith-Seidel CA, Weiss DC, Ostapkovich ND, Vermillion K, Treine KE, Kingsbury CE, Strouse JJ, Thompson RE, Hanley DF. Casella JF, et al. Among authors: shaw dw. Am J Hematol. 2024 Oct;99(10):1906-1916. doi: 10.1002/ajh.27423. Epub 2024 Jul 2. Am J Hematol. 2024. PMID: 38953438 Clinical Trial.
Disruption of myelin structure and oligodendrocyte maturation in a macaque model of congenital Zika infection.
Tisoncik-Go J, Stokes C, Whitmore LS, Newhouse DJ, Voss K, Gustin A, Sung CJ, Smith E, Stencel-Baerenwald J, Parker E, Snyder JM, Shaw DW, Rajagopal L, Kapur RP, Adams Waldorf KM, Gale M Jr. Tisoncik-Go J, et al. Among authors: shaw dw. Nat Commun. 2024 Jun 18;15(1):5173. doi: 10.1038/s41467-024-49524-2. Nat Commun. 2024. PMID: 38890352 Free PMC article.
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.
Wong CJ, Friedman SD, Snider L, Bennett SR, Jones TI, Jones PL, Shaw DWW, Blemker SS, Riem L, DuCharme O, Lemmers RJFL, van der Maarel SM, Wang LH, Tawil R, Statland JM, Tapscott SJ. Wong CJ, et al. Among authors: shaw dww. Hum Mol Genet. 2024 Apr 8;33(8):698-708. doi: 10.1093/hmg/ddae007. Hum Mol Genet. 2024. PMID: 38268317
Disruption of myelin structure and oligodendrocyte maturation in a pigtail macaque model of congenital Zika infection.
Tisoncik-Go J, Stokes C, Whitmore LS, Newhouse DJ, Voss K, Gustin A, Sung CJ, Smith E, Stencel-Baerenwald J, Parker E, Snyder JM, Shaw DW, Rajagopal L, Kapur RP, Waldorf KA, Gale M Jr. Tisoncik-Go J, et al. Among authors: shaw dw. bioRxiv [Preprint]. 2023 Oct 14:2023.10.11.561759. doi: 10.1101/2023.10.11.561759. bioRxiv. 2023. Update in: Nat Commun. 2024 Jun 18;15(1):5173. doi: 10.1038/s41467-024-49524-2 PMID: 37873381 Free PMC article. Updated. Preprint.
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Shelkowitz E, Stence NV, Neuberger I, Park KL, Saenz MS, Pao E, Oyama N, Friedman SD, Shaw DWW, Mirzaa GM. Shelkowitz E, et al. Among authors: shaw dww. Pediatr Neurol. 2023 Oct;147:154-162. doi: 10.1016/j.pediatrneurol.2023.06.015. Epub 2023 Jun 22. Pediatr Neurol. 2023. PMID: 37619436
174 results