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Noncoding deletions reveal a gene that is critical for intestinal function.
Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA. Oz-Levi D, et al. Among authors: tekman m. Nature. 2019 Jul;571(7763):107-111. doi: 10.1038/s41586-019-1312-2. Epub 2019 Jun 19. Nature. 2019. PMID: 31217582 Free PMC article.
Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.
Abdelhadi O, Iancu D, Tekman M, Stanescu H, Bockenhauer D, Kleta R. Abdelhadi O, et al. Among authors: tekman m. Mol Genet Genomic Med. 2016 Jun 7;4(5):521-6. doi: 10.1002/mgg3.227. eCollection 2016 Sep. Mol Genet Genomic Med. 2016. PMID: 27652280 Free PMC article.
STAG3 truncating variant as the cause of primary ovarian insufficiency.
Le Quesne Stabej P, Williams HJ, James C, Tekman M, Stanescu HC, Kleta R, Ocaka L, Lescai F, Storr HL, Bitner-Glindzicz M, Bacchelli C, Conway GS; GOSgene. Le Quesne Stabej P, et al. Among authors: tekman m. Eur J Hum Genet. 2016 Jan;24(1):135-8. doi: 10.1038/ejhg.2015.107. Epub 2015 Jun 10. Eur J Hum Genet. 2016. PMID: 26059840 Free PMC article.
Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.
Rowczenio DM, Iancu DS, Trojer H, Gilbertson JA, Gillmore JD, Wechalekar AD, Tekman M, Stanescu HC, Kleta R, Lane T, Hawkins PN, Lachmann HJ. Rowczenio DM, et al. Among authors: tekman m. Rheumatology (Oxford). 2017 Feb;56(2):209-213. doi: 10.1093/rheumatology/kew058. Epub 2016 May 5. Rheumatology (Oxford). 2017. PMID: 27150194
Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy.
Downie ML, Gupta S, Tekman MC, Cheshire C, Arora S, Licht C, Robinson LA, Munoz M, Aris AM, Al Attrach I, Brenchley PE, Gale DP, Stanescu H, Bockenhauer D, Kleta R. Downie ML, et al. Among authors: tekman mc. Kidney Int Rep. 2021 Mar 3;6(6):1669-1676. doi: 10.1016/j.ekir.2021.02.025. eCollection 2021 Jun. Kidney Int Rep. 2021. PMID: 34169208 Free PMC article.
29 results