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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: stanescu h. 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
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ. Landouré G, et al. Among authors: stanescu hc. Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037586 Free PMC article.
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: stanescu h. 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: stanescu h. 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.
NT5E mutations and arterial calcifications.
St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. St Hilaire C, et al. Among authors: stanescu hc. N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923. N Engl J Med. 2011. PMID: 21288095 Free PMC article.
Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate.
Wallis D, Arcos-Burgos M, Jain M, Castellanos FX, Palacio JD, Pineda D, Lopera F, Stanescu H, Pineda D, Berg K, Palacio LG, Bailey-Wilson JE, Muenke M. Wallis D, et al. Among authors: stanescu h. Atten Defic Hyperact Disord. 2009 May;1(1):19-24. doi: 10.1007/s12402-009-0003-5. Epub 2009 Apr 25. Atten Defic Hyperact Disord. 2009. PMID: 21432576
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: stanescu h. Neurology. 2012 Jul 24;79(4):342-7. doi: 10.1212/WNL.0b013e318260cbd0. Epub 2012 Jun 27. Neurology. 2012. PMID: 22744667 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: stanescu hc. 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.
61 results