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Page 1
The adult galactosemic phenotype.
Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT. Waisbren SE, et al. Among authors: gentile j. J Inherit Metab Dis. 2012 Mar;35(2):279-86. doi: 10.1007/s10545-011-9372-y. Epub 2011 Jul 21. J Inherit Metab Dis. 2012. PMID: 21779791 Free PMC article.
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.
Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU. Gentile JK, et al. J Dev Behav Pediatr. 2010 Sep;31(7):592-601. doi: 10.1097/DBP.0b013e3181ee408e. J Dev Behav Pediatr. 2010. PMID: 20729760 Free PMC article.
Angelman syndrome: Mutations influence features in early childhood.
Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. Tan WH, et al. Am J Med Genet A. 2011 Jan;155A(1):81-90. doi: 10.1002/ajmg.a.33775. Am J Med Genet A. 2011. PMID: 21204213 Free PMC article.
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL. Miller DT, et al. Among authors: gentile j. J Med Genet. 2009 Apr;46(4):242-8. doi: 10.1136/jmg.2008.059907. Epub 2008 Sep 19. J Med Genet. 2009. PMID: 18805830 Free PMC article.
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.
Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL. Bird LM, et al. Am J Med Genet A. 2011 Dec;155A(12):2956-63. doi: 10.1002/ajmg.a.34297. Epub 2011 Oct 14. Am J Med Genet A. 2011. PMID: 22002941 Free PMC article. Clinical Trial.
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. Lalani SR, et al. Among authors: gentile j. J Med Genet. 2009 Mar;46(3):168-75. doi: 10.1136/jmg.2008.061002. Epub 2008 Sep 23. J Med Genet. 2009. PMID: 18812404 Free PMC article.
Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker.
Gentile JE, Heiss C, Corridon TL, Mortberg MA, Fruhwürth S, Guzman K, Grötschel L, Chan K, Herring NC, Janicki T, Nhass R, Sarathy JM, Erickson B, Kunz R, Erickson A, Braun C, Henry KT, Bry L, Arnold SE, Minikel EV, Zetterberg H, Vallabh SM. Gentile JE, et al. medRxiv [Preprint]. 2024 May 2:2024.05.01.24306384. doi: 10.1101/2024.05.01.24306384. medRxiv. 2024. PMID: 38746398 Free PMC article. Preprint.
Five-Year Longitudinal Follow-up of Restorative Neurostimulation Shows Durability of Effectiveness in Patients With Refractory Chronic Low Back Pain Associated With Multifidus Muscle Dysfunction.
Gilligan C, Volschenk W, Russo M, Green M, Gilmore C, Mehta V, Deckers K, De Smedt K, Latif U, Sayed D, Georgius P, Gentile J, Mitchell B, Langhorst M, Huygen F, Baranidharan G, Patel V, Mironer E, Ross E, Carayannopoulos A, Hayek S, Gulve A, Van Buyten JP, Tohmeh A, Fischgrund J, Lad S, Ahadian F, Deer T, Klemme W, Rauck R, Rathmell J, Maislin G, Heemels JP, Eldabe S. Gilligan C, et al. Among authors: gentile j. Neuromodulation. 2024 Mar 11:S1094-7159(24)00055-2. doi: 10.1016/j.neurom.2024.01.006. Online ahead of print. Neuromodulation. 2024. PMID: 38483366 Free article.
279 results