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PUBMED FOR HANDHELDS

Journal Abstract Search


221 related items for PubMed ID: 24532815

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  • 3. A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.
    Khan SA, Khan MA, Muhammad N, Bashir H, Khan N, Muhammad N, Yilmaz R, Khan S, Wasif N.
    BMC Med Genet; 2020 May 07; 21(1):97. PubMed ID: 32380970
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  • 4. Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.
    Herzog CR, Reid BM, Seymen F, Koruyucu M, Tuna EB, Simmer JP, Hu JC.
    Oral Surg Oral Med Oral Pathol Oral Radiol; 2015 Feb 07; 119(2):e77-81. PubMed ID: 25442250
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  • 5. Enamelin/ameloblastin gene polymorphisms in autosomal amelogenesis imperfecta among Syrian families.
    Dashash M, Bazrafshani MR, Poulton K, Jaber S, Naeem E, Blinkhorn AS.
    J Investig Clin Dent; 2011 Feb 07; 2(1):16-22. PubMed ID: 25427323
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  • 6. STIM1 and SLC24A4 Are Critical for Enamel Maturation.
    Wang S, Choi M, Richardson AS, Reid BM, Seymen F, Yildirim M, Tuna E, Gençay K, Simmer JP, Hu JC.
    J Dent Res; 2014 Jul 07; 93(7 Suppl):94S-100S. PubMed ID: 24621671
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  • 7. Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
    Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, Anwari BM, Rashid Y, Zhao H, Johnson CA, Inglehearn CF, Mighell AJ.
    Am J Hum Genet; 2013 Feb 07; 92(2):307-12. PubMed ID: 23375655
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  • 8. Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
    El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ.
    Am J Hum Genet; 2009 Nov 07; 85(5):699-705. PubMed ID: 19853237
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  • 12. Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
    Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW.
    Hum Mutat; 2012 Jan 07; 33(1):91-4. PubMed ID: 21990045
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  • 13. Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
    Cherkaoui Jaouad I, El Alloussi M, Chafai El Alaoui S, Laarabi FZ, Lyahyai J, Sefiani A.
    BMC Oral Health; 2015 Jan 30; 15():14. PubMed ID: 25636655
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  • 14. Candidate gene strategy reveals ENAM mutations.
    Kang HY, Seymen F, Lee SK, Yildirim M, Tuna EB, Patir A, Lee KE, Kim JW.
    J Dent Res; 2009 Mar 30; 88(3):266-9. PubMed ID: 19329462
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  • 15. Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.
    Hentschel J, Tatun D, Parkhomchuk D, Kurth I, Schimmel B, Heinrich-Weltzien R, Bertzbach S, Peters H, Beetz C.
    Gene; 2016 Sep 15; 590(1):1-4. PubMed ID: 27259663
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  • 16. Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
    Seymen F, Kim YJ, Lee YJ, Kang J, Kim TH, Choi H, Koruyucu M, Kasimoglu Y, Tuna EB, Gencay K, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Zhang H, Hu JC, Simmer JP, Cho ES, Kim JW.
    Am J Hum Genet; 2016 Nov 03; 99(5):1199-1205. PubMed ID: 27843125
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  • 17. Hypomaturation amelogenesis imperfecta: account of a family with an X-linked inheritance pattern.
    Bundzman ER, Modesto A.
    Braz Dent J; 1999 Nov 03; 10(2):111-6. PubMed ID: 10863398
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  • 18. Novel Mutations in GPR68 and SLC24A4 Cause Hypomaturation Amelogenesis Imperfecta.
    Seymen F, Zhang H, Kasimoglu Y, Koruyucu M, Simmer JP, Hu JC, Kim JW.
    J Pers Med; 2021 Dec 28; 12(1):. PubMed ID: 35055328
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  • 19. Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.
    Nitayavardhana I, Theerapanon T, Srichomthong C, Piwluang S, Wichadakul D, Porntaveetus T, Shotelersuk V.
    Mol Genet Genomics; 2020 Jul 28; 295(4):923-931. PubMed ID: 32246227
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  • 20. Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary.
    Kida M, Ariga T, Shirakawa T, Oguchi H, Sakiyama Y.
    J Dent Res; 2002 Nov 28; 81(11):738-42. PubMed ID: 12407086
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