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994 results

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Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes.
Sibley CH, Plass N, Snow J, Wiggs EA, Brewer CC, King KA, Zalewski C, Kim HJ, Bishop R, Hill S, Paul SM, Kicker P, Phillips Z, Dolan JG, Widemann B, Jayaprakash N, Pucino F, Stone DL, Chapelle D, Snyder C, Butman JA, Wesley R, Goldbach-Mansky R. Sibley CH, et al. Among authors: snow j. Arthritis Rheum. 2012 Jul;64(7):2375-86. doi: 10.1002/art.34409. Arthritis Rheum. 2012. PMID: 22294344 Free PMC article. Clinical Trial.
Neurocognitive phenotype of isolated methylmalonic acidemia.
O'Shea CJ, Sloan JL, Wiggs EA, Pao M, Gropman A, Baker EH, Manoli I, Venditti CP, Snow J. O'Shea CJ, et al. Among authors: snow j. Pediatrics. 2012 Jun;129(6):e1541-51. doi: 10.1542/peds.2011-1715. Epub 2012 May 21. Pediatrics. 2012. PMID: 22614770 Free PMC article. Clinical Trial.
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium; Carey JC, Robertson SP, Manoli I, Engle EC. Di Gioia SA, et al. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077. Nat Commun. 2017. PMID: 28681861 Free PMC article.
The neuropsychological phenotype of Chediak-Higashi disease.
Shirazi TN, Snow J, Ham L, Raglan GB, Wiggs EA, Summers AC, Toro C, Introne WJ. Shirazi TN, et al. Among authors: snow j. Orphanet J Rare Dis. 2019 May 6;14(1):101. doi: 10.1186/s13023-019-1049-x. Orphanet J Rare Dis. 2019. PMID: 31060595 Free PMC article.
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, Doherty D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program; Vilboux T, Gahl WA, Gunay-Aygun M. Summers AC, et al. Among authors: snow j. Am J Med Genet A. 2017 Jul;173(7):1796-1812. doi: 10.1002/ajmg.a.38272. Epub 2017 May 12. Am J Med Genet A. 2017. PMID: 28497568 Free PMC article.
The Association Between Post-traumatic Stress Disorder and Markers of Inflammation and Immune Activation in HIV-Infected Individuals With Controlled Viremia.
Siyahhan Julnes P, Auh S, Krakora R, Withers K, Nora D, Matthews L, Steinbach S, Snow J, Smith B, Nath A, Morse C, Kapetanovic S. Siyahhan Julnes P, et al. Among authors: snow j. Psychosomatics. 2016 Jul-Aug;57(4):423-30. doi: 10.1016/j.psym.2016.02.015. Epub 2016 Mar 2. Psychosomatics. 2016. PMID: 27095586 Free PMC article.
Neurologic involvement in patients with atypical Chediak-Higashi disease.
Introne WJ, Westbroek W, Cullinane AR, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C. Introne WJ, et al. Among authors: snow j. Neurology. 2016 Apr 5;86(14):1320-1328. doi: 10.1212/WNL.0000000000002551. Epub 2016 Mar 4. Neurology. 2016. Retracted and republished in: Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622 PMID: 26944273 Free PMC article. Retracted and republished.
Neurologic involvement in patients with atypical Chediak-Higashi disease.
Introne WJ, Westbroek W, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Malicdan MC, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C. Introne WJ, et al. Among authors: snow j. Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622. Neurology. 2017. PMID: 28193763 Free PMC article.
Defective ciliogenesis in INPP5E-related Joubert syndrome.
Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV. Hardee I, et al. Among authors: snow j. Am J Med Genet A. 2017 Dec;173(12):3231-3237. doi: 10.1002/ajmg.a.38376. Epub 2017 Oct 20. Am J Med Genet A. 2017. PMID: 29052317 Free PMC article.
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