Hashem M - Search Results

1

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: hashem m. Clin Genet. 2018 Dec;94(6):554-563. doi: 10.1111/cge.13426. Epub 2018 Sep 3. Clin Genet. 2018. PMID: 30054919

2

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS. Abu Safieh L, et al. Among authors: hashem m. J Med Genet. 2010 Apr;47(4):236-41. doi: 10.1136/jmg.2009.070755. Epub 2009 Oct 26. J Med Genet. 2010. PMID: 19858128

3

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: hashem m. Mol Vis. 2009 Nov 24;15:2464-9. Mol Vis. 2009. PMID: 19956407 Free PMC article.

4

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.

Shaheen R, Al-Dirbashi OY, Al-Hassnan ZN, Al-Owain M, Makhsheed N, Basheeri F, Seidahmed MZ, Salih MA, Faqih E, Zaidan H, Al-Sayed M, Rahbeeni Z, Al-Sheddi T, Hashem M, Kurdi W, Shimozawa N, Alkuraya FS. Shaheen R, et al. Among authors: hashem m. Clin Genet. 2011 Jan;79(1):60-70. doi: 10.1111/j.1399-0004.2010.01498.x. Clin Genet. 2011. PMID: 20681997

5

Study of consanguineous populations can improve the annotation of SNP databases.

Shamseldin HE, Al-Dosari M, Al-Jbali L, Rahbeeni Z, Qari A, Hashem M, Alkuraya FS. Shamseldin HE, et al. Among authors: hashem m. Eur J Med Genet. 2011 Mar-Apr;54(2):118-20. doi: 10.1016/j.ejmg.2010.10.009. Epub 2010 Oct 28. Eur J Med Genet. 2011. PMID: 21035572

6

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Khan AO, Aldahmesh MA, Al-Abdi L, Mohamed JY, Hashem M, Al-Ghamdi I, Alkuraya FS. Khan AO, et al. Among authors: hashem m. Ophthalmic Genet. 2011 Sep;32(3):138-42. doi: 10.3109/13816810.2010.544365. Epub 2011 Feb 9. Ophthalmic Genet. 2011. PMID: 21306220

7

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. Among authors: hashem m. 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.

8

Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms.

Abu-Safieh L, Abboud EB, Alkuraya H, Shamseldin H, Al-Enzi S, Al-Abdi L, Hashem M, Colak D, Jarallah A, Ahmad H, Bobis S, Nemer G, Bitar F, Alkuraya FS. Abu-Safieh L, et al. Among authors: hashem m. Am J Hum Genet. 2011 Aug 12;89(2):313-9. doi: 10.1016/j.ajhg.2011.07.010. Am J Hum Genet. 2011. PMID: 21835307 Free PMC article.

9

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.

Al-Mayouf SM, Sunker A, Abdwani R, Abrawi SA, Almurshedi F, Alhashmi N, Al Sonbul A, Sewairi W, Qari A, Abdallah E, Al-Owain M, Al Motywee S, Al-Rayes H, Hashem M, Khalak H, Al-Jebali L, Alkuraya FS. Al-Mayouf SM, et al. Among authors: hashem m. Nat Genet. 2011 Oct 23;43(12):1186-8. doi: 10.1038/ng.975. Nat Genet. 2011. PMID: 22019780

10

Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism.

Alazami AM, Monies D, Meyer BF, Alzahrani F, Hashem M, Salih MA, Alkuraya FS. Alazami AM, et al. Among authors: hashem m. Am J Med Genet A. 2012 Jan;158A(1):245-6. doi: 10.1002/ajmg.a.34347. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105986 No abstract available.

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