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Early-onset stroke and vasculopathy associated with mutations in ADA2.
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: patronas nj. N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19. N Engl J Med. 2014. PMID: 24552284 Free PMC article.
The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).
Lai JP, Liu YC, Alimchandani M, Liu Q, Aung PP, Matsuda K, Lee CC, Tsokos M, Hewitt S, Rushing EJ, Tamura D, Levens DL, Digiovanna JJ, Fine HA, Patronas N, Khan SG, Kleiner DE, Oberholtzer JC, Quezado MM, Kraemer KH. Lai JP, et al. Acta Neuropathol Commun. 2013 May 8;1:4. doi: 10.1186/2051-5960-1-4. Acta Neuropathol Commun. 2013. PMID: 24252196 Free PMC article.
Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection.
Talaat KR, Rothman JA, Cohen JI, Santi M, Choi JK, Guzman M, Zimmerman R, Nallasamy S, Brucker A, Quezado M, Pittaluga S, Patronas NJ, Klion AD, Nichols KE. Talaat KR, et al. Among authors: patronas nj. Pediatr Blood Cancer. 2009 Dec;53(6):1120-3. doi: 10.1002/pbc.22185. Pediatr Blood Cancer. 2009. PMID: 19621458 Free PMC article.
Eccrine spiradenoma mimicking a painful traumatic neuroma: case report.
Donaldson K, Scott G, Cantor FK, Patronas NJ, Quezado M, Heiss JD. Donaldson K, et al. Among authors: patronas nj. J Neurosurg. 2018 Sep;129(3):825-828. doi: 10.3171/2017.5.JNS162999. Epub 2017 Oct 27. J Neurosurg. 2018. PMID: 29076781 Free PMC article.
Neonatal diagnosis and treatment of Menkes disease.
Kaler SG, Holmes CS, Goldstein DS, Tang J, Godwin SC, Donsante A, Liew CJ, Sato S, Patronas N. Kaler SG, et al. N Engl J Med. 2008 Feb 7;358(6):605-14. doi: 10.1056/NEJMoa070613. N Engl J Med. 2008. PMID: 18256395 Free PMC article.
Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features.
Briassoulis G, Horvath A, Christoforou P, Lodish M, Xekouki P, Quezado M, Patronas N, Keil MF, Stratakis CA. Briassoulis G, et al. J Pediatr Endocrinol Metab. 2012;25(1-2):213-9. doi: 10.1515/jpem.2011.371. J Pediatr Endocrinol Metab. 2012. PMID: 22570980 Free PMC article.
220 results