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SHANK1 Deletions in Males with Autism Spectrum Disorder.
Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, O'Connor I, Russell C, Drmic IE, Hamdan FF, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, Leboyer M, Rastam M, Gillberg C, Lathrop M, Stavropoulos DJ, Anagnostou E, Weksberg R, Fombonne E, Zwaigenbaum L, Fernandez BA, Roberts W, Rappold GA, Marshall CR, Bourgeron T, Szatmari P, Scherer SW. Sato D, et al. Among authors: roeth r. Am J Hum Genet. 2012 May 4;90(5):879-87. doi: 10.1016/j.ajhg.2012.03.017. Epub 2012 Apr 12. Am J Hum Genet. 2012. PMID: 22503632 Free PMC article.
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke-Otto S, Binder G, Ogata T, Decker E, Nuernberg G, Hassel D, Rappold GA. Montalbano A, et al. Among authors: roeth r. EMBO Mol Med. 2016 Dec 1;8(12):1455-1469. doi: 10.15252/emmm.201606623. Print 2016 Dec. EMBO Mol Med. 2016. PMID: 27861128 Free PMC article.
miR-16 and miR-125b are involved in barrier function dysregulation through the modulation of claudin-2 and cingulin expression in the jejunum in IBS with diarrhoea.
Martínez C, Rodiño-Janeiro BK, Lobo B, Stanifer ML, Klaus B, Granzow M, González-Castro AM, Salvo-Romero E, Alonso-Cotoner C, Pigrau M, Roeth R, Rappold G, Huber W, González-Silos R, Lorenzo J, de Torres I, Azpiroz F, Boulant S, Vicario M, Niesler B, Santos J. Martínez C, et al. Among authors: roeth r. Gut. 2017 Sep;66(9):1537-1538. doi: 10.1136/gutjnl-2016-311477. Epub 2017 Jan 12. Gut. 2017. PMID: 28082316 Free PMC article.
Investigation of SHANK3 in schizophrenia.
de Sena Cortabitarte A, Degenhardt F, Strohmaier J, Lang M, Weiss B, Roeth R, Giegling I, Heilmann-Heimbach S, Hofmann A, Rujescu D, Fischer C, Rietschel M, Nöthen MM, Rappold GA, Berkel S. de Sena Cortabitarte A, et al. Among authors: roeth r. Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):390-398. doi: 10.1002/ajmg.b.32528. Epub 2017 Mar 28. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 28371232
25 results