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Page 1
Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility.
Domené S, Stanescu H, Wallis D, Tinloy B, Pineda DE, Kleta R, Arcos-Burgos M, Roessler E, Muenke M. Domené S, et al. Among authors: kleta r. Am J Med Genet B Neuropsychiatr Genet. 2011 Jan;156B(1):11-8. doi: 10.1002/ajmg.b.31141. Epub 2010 Nov 12. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21184580
A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.
Arcos-Burgos M, Jain M, Acosta MT, Shively S, Stanescu H, Wallis D, Domené S, Vélez JI, Karkera JD, Balog J, Berg K, Kleta R, Gahl WA, Roessler E, Long R, Lie J, Pineda D, Londoño AC, Palacio JD, Arbelaez A, Lopera F, Elia J, Hakonarson H, Johansson S, Knappskog PM, Haavik J, Ribases M, Cormand B, Bayes M, Casas M, Ramos-Quiroga JA, Hervas A, Maher BS, Faraone SV, Seitz C, Freitag CM, Palmason H, Meyer J, Romanos M, Walitza S, Hemminger U, Warnke A, Romanos J, Renner T, Jacob C, Lesch KP, Swanson J, Vortmeyer A, Bailey-Wilson JE, Castellanos FX, Muenke M. Arcos-Burgos M, et al. Among authors: kleta r. Mol Psychiatry. 2010 Nov;15(11):1053-66. doi: 10.1038/mp.2010.6. Epub 2010 Feb 16. Mol Psychiatry. 2010. PMID: 20157310 Free article.
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.
Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T. Gunay-Aygun M, et al. Among authors: kleta r. Blood. 2010 Dec 2;116(23):4990-5001. doi: 10.1182/blood-2010-05-286534. Epub 2010 Aug 13. Blood. 2010. PMID: 20709904 Free PMC article.
Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy.
Coenen MJ, Hofstra JM, Debiec H, Stanescu HC, Medlar AJ, Stengel B, Boland-Augé A, Groothuismink JM, Bockenhauer D, Powis SH, Mathieson PW, Brenchley PE, Kleta R, Wetzels JF, Ronco P. Coenen MJ, et al. Among authors: kleta r. J Am Soc Nephrol. 2013 Mar;24(4):677-83. doi: 10.1681/ASN.2012070730. Epub 2013 Feb 21. J Am Soc Nephrol. 2013. PMID: 23431073 Free PMC article.
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall AM, Wijeyesekera AD, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich DM, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R. Klootwijk ED, et al. Among authors: kleta r. N Engl J Med. 2014 Jan 9;370(2):129-38. doi: 10.1056/NEJMoa1307581. N Engl J Med. 2014. PMID: 24401050 Free article.
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A. Kleta R, et al. Nat Genet. 2004 Sep;36(9):999-1002. doi: 10.1038/ng1405. Epub 2004 Aug 1. Nat Genet. 2004. PMID: 15286787
A candidate gene for autoimmune myasthenia gravis.
Landouré G, Knight MA, Stanescu H, Taye AA, Shi Y, Diallo O, Johnson JO, Hernandez D, Traynor BJ, Biesecker LG; NIH Intramural Sequencing Center; Elkahloun A, Rinaldi C, Vincent A, Willcox N, Kleta R, Fischbeck KH, Burnett BG. Landouré G, et al. Among authors: kleta r. Neurology. 2012 Jul 24;79(4):342-7. doi: 10.1212/WNL.0b013e318260cbd0. Epub 2012 Jun 27. Neurology. 2012. PMID: 22744667 Free PMC article.
196 results