Shaheen R - Search Results

1

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Al-Zahrani F, Cueto-González AM, Abdel-Salam G, Temtamy S, Alkuraya FS. Shaheen R, et al. Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012. Epub 2013 Mar 21. Am J Hum Genet. 2013. PMID: 23522784 Free PMC article.

2

Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.

Shaheen R, Al-Owain M, Khan AO, Zaki MS, Hossni HA, Al-Tassan R, Eyaid W, Alkuraya FS. Shaheen R, et al. Clin Genet. 2014 Jun;85(6):568-72. doi: 10.1111/cge.12226. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829171

3

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Patel N, Alkuraya H, Alzahrani SS, Nowailaty SR, Seidahmed MZ, Alhemidan A, Ben-Omran T, Ghazi NG, Al-Aqeel A, Al-Owain M, Alzaidan HI, Faqeih E, Kurdi W, Rahbeeni Z, Ibrahim N, Abdulwahab F, Hashem M, Shaheen R, Abouelhoda M, Monies D, Khan AO, Aldahmesh MA, Alkuraya FS. Patel N, et al. Among authors: shaheen r. Clin Genet. 2018 Dec;94(6):554-563. doi: 10.1111/cge.13426. Epub 2018 Sep 3. Clin Genet. 2018. PMID: 30054919

4

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS. Alazami AM, et al. Among authors: shaheen r. Am J Hum Genet. 2009 Sep;85(3):414-8. doi: 10.1016/j.ajhg.2009.08.010. Am J Hum Genet. 2009. PMID: 19732862 Free PMC article.

5

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.

6

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

7

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.

8

Mutations in TMEM231 cause Meckel-Gruber syndrome.

Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS. Shaheen R, et al. J Med Genet. 2013 Mar;50(3):160-2. doi: 10.1136/jmedgenet-2012-101431. Epub 2013 Jan 24. J Med Genet. 2013. PMID: 23349226 Free PMC article.

9

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.

Shaheen R, Faqeih E, Ansari S, Alkuraya FS. Shaheen R, et al. Neurogenetics. 2013 Nov;14(3-4):243-5. doi: 10.1007/s10048-013-0367-8. Epub 2013 Jul 23. Neurogenetics. 2013. PMID: 23877401

10

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.

Shamseldin HE, Rajab A, Alhashem A, Shaheen R, Al-Shidi T, Alamro R, Al Harassi S, Alkuraya FS. Shamseldin HE, et al. Among authors: shaheen r. Am J Hum Genet. 2013 Sep 5;93(3):555-60. doi: 10.1016/j.ajhg.2013.07.012. Epub 2013 Aug 22. Am J Hum Genet. 2013. PMID: 23972372 Free PMC article.

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