Faqeih EA - Search Results

1

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.

Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilić K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD. Sass JO, et al. Among authors: faqeih ea. Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22. Mol Genet Metab. 2016. PMID: 27477828

2

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. Hum Mutat. 2011 Jun;32(6):573-8. doi: 10.1002/humu.21507. Epub 2011 May 5. Hum Mutat. 2011. PMID: 21462283

3

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.

Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya FS. Shaheen R, et al. Am J Med Genet A. 2011 Jun;155A(6):1448-52. doi: 10.1002/ajmg.a.34025. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567934

4

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Shaheen R, et al. Am J Hum Genet. 2011 Aug 12;89(2):328-33. doi: 10.1016/j.ajhg.2011.07.009. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820096 Free PMC article.

5

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature.

Al-Dosari MS, Al-Shammari M, Shaheen R, Faqeih E, Alghofely MA, Boukai A, Alkuraya FS. Al-Dosari MS, et al. J Pediatr. 2012 Jul;161(1):139-45.e1. doi: 10.1016/j.jpeds.2011.12.051. Epub 2012 Feb 9. J Pediatr. 2012. PMID: 22325252

6

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. 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.

7

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. 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.

8

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.

Shaheen R, Alazami AM, Alshammari MJ, Faqeih E, Alhashmi N, Mousa N, Alsinani A, Ansari S, Alzahrani F, Al-Owain M, Alzayed ZS, Alkuraya FS. Shaheen R, et al. J Med Genet. 2012 Oct;49(10):630-5. doi: 10.1136/jmedgenet-2012-101142. J Med Genet. 2012. PMID: 23054245

9

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. 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.

10

Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.

Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS. Mohamed JY, et al. Am J Hum Genet. 2013 Jan 10;92(1):157-61. doi: 10.1016/j.ajhg.2012.11.016. Epub 2013 Jan 3. Am J Hum Genet. 2013. PMID: 23290072 Free PMC article.

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