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Page 1
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, Gauthier J, Crosbie J, Pagnamenta AT, Munson J, Estes AM, Fiebig A, Franke A, Schreiber S, Stewart AF, Roberts R, McPherson R, Guter SJ, Cook EH Jr, Dawson G, Schellenberg GD, Battaglia A, Maestrini E; Autism Genome Project Consortium; Jeng L, Hutchison T, Rajcan-Separovic E, Chudley AE, Lewis SM, Liu X, Holden JJ, Fernandez B, Zwaigenbaum L, Bryson SE, Roberts W, Szatmari P, Gallagher L, Stratton MR, Gecz J, Brady AF, Schwartz CE, Schachar RJ, Monaco AP, Rouleau GA, Hui CC, Lucy Raymond F, Scherer SW, Vincent JB. Noor A, et al. Among authors: franke a. Sci Transl Med. 2010 Sep 15;2(49):49ra68. doi: 10.1126/scitranslmed.3001267. Sci Transl Med. 2010. PMID: 20844286 Free PMC article.
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.
Horn D, Kapeller J, Rivera-Brugués N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco AP, Bonin M, Riess O, Wohlleber E, Illig T, Bezzina CR, Franke A, Spranger S, Villavicencio-Lorini P, Seifert W, Rosenfeld J, Klopocki E, Rappold GA, Strom TM. Horn D, et al. Among authors: franke a. Hum Mutat. 2010 Nov;31(11):E1851-60. doi: 10.1002/humu.21362. Hum Mutat. 2010. PMID: 20848658 Free PMC article.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Cottenie E, et al. Among authors: franke a. Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30. Am J Hum Genet. 2014. PMID: 25439726 Free PMC article.
Distinct Genetic Risk Profile in Aortic Stenosis Compared With Coronary Artery Disease.
Trenkwalder T, Maj C, Al-Kassou B, Debiec R, Doppler SA, Musameh MD, Nelson CP, Dasmeh P, Grover S, Knoll K, Naamanka J, Mordi IR, Braund PS, Dreßen M, Lahm H, Wirth F, Baldus S, Kelm M, von Scheidt M, Krefting J, Ellinghaus D, Small AM, Peloso GM, Natarajan P, Thanassoulis G, Engert JC, Dufresne L, Franke A, Görg S, Laudes M, Nowak-Göttl U, Vaht M, Metspalu A, Stoll M, Berger K, Pellegrini C, Kastrati A, Hengstenberg C, Lang CC, Kessler T, Hovatta I, Nickenig G, Nöthen MM, Krane M, Schunkert H, Samani NJ, Schumacher J, Kals M, Reigo A, Teder-Laving M, Gehlen J, Webb TR, Giel AS, Koebbe LL, Feirer N, Billmann M, Srinivasan S, Zimmer S, Palmer CNA, Li L, Yang C, Borisov O, Adam M, Veulemans V, Joner M, Xhepa E; TARGET Consortium; Estonian Biobank; and the European Consortium for Genetics of Aortic Stenosis (EGAS). Trenkwalder T, et al. Among authors: franke a. JAMA Cardiol. 2024 Nov 6. doi: 10.1001/jamacardio.2024.3738. Online ahead of print. JAMA Cardiol. 2024. PMID: 39504041
Changes in Periodontal Parameters and Microbiome Composition of Periodontal Pocket in Patients with Chronic Inflammatory Diseases Receiving Targeted Anti-Cytokine Therapy.
Wagner J, Haker L, Mewes L, Bang C, Rühlemann M, Naujokat H, Spille JH, Lieb W, Franke A, Schreiber S, Laudes M, Dörfer C, Wiltfang J, Graetz C, Schulte DM. Wagner J, et al. Among authors: franke a. Microorganisms. 2024 Sep 24;12(10):1934. doi: 10.3390/microorganisms12101934. Microorganisms. 2024. PMID: 39458244 Free PMC article.
Metabolic and lifestyle factors accelerate disease onset and alter gut microbiome in inflammatory non-communicable diseases.
Rohmann N, Geese T, Nestel S, Schlicht K, Geisler C, Türk K, Brix F, Jensen-Kroll J, Demetrowitsch T, Bang C, Franke A, Lieb W, Schulte DM, Schwarz K, Ruß AK, Sharma A, Schreiber S, Dempfle A, Laudes M. Rohmann N, et al. Among authors: franke a. BMC Med. 2024 Oct 24;22(1):493. doi: 10.1186/s12916-024-03709-0. BMC Med. 2024. PMID: 39449123 Free PMC article.
Fecal glycoprotein 2 is a marker of gut microbiota dysbiosis and systemic inflammation.
Frost F, Weiss S, Hertel J, Rühlemann M, Bang C, Franke A, Nauck M, Dörr M, Völzke H, Roggenbuck D, Schierack P, Völker U, Homuth G, Aghdassi AA, Sendler M, Lerch MM, Weiss FU. Frost F, et al. Among authors: franke a. Gut Pathog. 2024 Oct 19;16(1):60. doi: 10.1186/s13099-024-00657-1. Gut Pathog. 2024. PMID: 39427219 Free PMC article.
Functional variation in human CAZyme genes in relation to the efficacy of a carbohydrate-restricted diet in IBS patients.
Zamfir-Taranu A, Löscher BS, Carbone F, Hoter A, Blanco CE, Bozzarelli I, Torices L, Routhiaux K, Van den Houte K, Bonfiglio F, Mayr G, Corsetti M, Naim HY, Franke A, Tack J, D'Amato M. Zamfir-Taranu A, et al. Among authors: franke a. Clin Gastroenterol Hepatol. 2024 Oct 7:S1542-3565(24)00870-X. doi: 10.1016/j.cgh.2024.09.004. Online ahead of print. Clin Gastroenterol Hepatol. 2024. PMID: 39413891 Free article.
1,741 results