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Page 1
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
Muggenthaler MM, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, Zahka K, Faqeih E, Blakley B, Jackson M, Lees M, Dolinsky V, Cross L, Stanier P, Salter C, Baple EL, Alkuraya FS, Crosby AH, Triggs-Raine B, Chioza BA. Muggenthaler MM, et al. Among authors: faqeih e. PLoS Genet. 2017 Jan 12;13(1):e1006470. doi: 10.1371/journal.pgen.1006470. eCollection 2017 Jan. PLoS Genet. 2017. PMID: 28081210 Free PMC article.
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS. Shaheen R, et al. Among authors: faqeih e. Hum Mutat. 2011 Jun;32(6):573-8. doi: 10.1002/humu.21507. Epub 2011 May 5. Hum Mutat. 2011. PMID: 21462283
In search of triallelism in Bardet-Biedl syndrome.
Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, Alkuraya FS. Abu-Safieh L, et al. Among authors: faqeih e. Eur J Hum Genet. 2012 Apr;20(4):420-7. doi: 10.1038/ejhg.2011.205. Epub 2012 Feb 22. Eur J Hum Genet. 2012. PMID: 22353939 Free PMC article.
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, Al-Sheddi T, Adly N, Al-Dosari MS, Megason SG, Al-Husain M, Al-Mohanna F, Alkuraya FS. Shaheen R, et al. Among authors: faqeih e. Am J Hum Genet. 2012 Aug 10;91(2):330-6. doi: 10.1016/j.ajhg.2012.05.025. Epub 2012 Jul 26. Am J Hum Genet. 2012. PMID: 22840364 Free PMC article.
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi W, Al-Rasheed S, Alkuraya FS. Shaheen R, et al. Among authors: faqeih e. Eur J Hum Genet. 2013 Jul;21(7):762-8. doi: 10.1038/ejhg.2012.254. Epub 2012 Nov 21. Eur J Hum Genet. 2013. PMID: 23169490 Free PMC article.
151 results