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Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children.
Al-Allaf FA, Alashwal A, Abduljaleel Z, Taher MM, Siddiqui SS, Bouazzaoui A, Abalkhail H, Aun R, Al-Allaf AF, AbuMansour I, Azhar Z, Ba-Hammam FA, Khan W, Athar M. Al-Allaf FA, et al. Among authors: alashwal a. Genomics. 2016 Jan;107(1):24-32. doi: 10.1016/j.ygeno.2015.12.001. Epub 2015 Dec 11. Genomics. 2016. PMID: 26688439 Free article.
Identification and Treatment of Patients with Homozygous Familial Hypercholesterolaemia: Information and Recommendations from a Middle East Advisory Panel.
Al-Ashwal A, Alnouri F, Sabbour H, Al-Mahfouz A, Al-Sayed N, Razzaghy-Azar M, Al-Allaf F, Al-Waili K, Banerjee Y, Genest J, Santos RD, Al-Rasadi K. Al-Ashwal A, et al. Curr Vasc Pharmacol. 2015;13(6):759-70. doi: 10.2174/1570161113666150827125040. Curr Vasc Pharmacol. 2015. PMID: 26311574 Free PMC article.
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation.
Faiyaz-Ul-Haque M, AlDhalaan W, AlAshwal A, Bin-Abbas BS, AlSagheir A, Alotaiby M, Rafiq Z, Zaidi SHE. Faiyaz-Ul-Haque M, et al. Among authors: alashwal a. J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):861-868. doi: 10.1515/jpem-2017-0312. J Pediatr Endocrinol Metab. 2018. PMID: 29949513 Free article.
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Abu Khaled M, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi… See abstract for full author list ➔ Monies D, et al. Among authors: alashwal a. Am J Hum Genet. 2019 Jun 6;104(6):1182-1201. doi: 10.1016/j.ajhg.2019.04.011. Epub 2019 May 23. Am J Hum Genet. 2019. PMID: 31130284 Free PMC article.
60 results