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Page 1
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.
Faiyaz-Ul-Haque M, Al-Owain M, Al-Dayel F, Al-Hassnan Z, Al-Zaidan H, Rahbeeni Z, Al-Sayed M, Balobaid A, Cluntun A, Toulimat M, Abalkhail H, Peltekova I, Zaidi SH. Faiyaz-Ul-Haque M, et al. Among authors: balobaid a. Eur J Pediatr. 2009 Dec;168(12):1467-71. doi: 10.1007/s00431-009-0953-9. Epub 2009 Mar 4. Eur J Pediatr. 2009. PMID: 19259699
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
Khalifa O, Imtiaz F, Allam R, Al-Hassnan Z, Al-Hemidan A, Al-Mane K, Abuharb G, Balobaid A, Sakati N, Hyland J, Al-Owain M. Khalifa O, et al. Among authors: balobaid a. J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783. J Med Genet. 2012. PMID: 22499343 No abstract available.
Combined TSC1 and LMX1B mutations in a single patient.
Khalifa O, Al-Sakati N, Al-Mane K, Balobaid A, Al-Hassnan ZN. Khalifa O, et al. Among authors: balobaid a. Clin Dysmorphol. 2014 Apr;23(2):47-51. doi: 10.1097/MCD.0000000000000025. Clin Dysmorphol. 2014. PMID: 24477276
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.
Imtiaz F, Al-Mostafa A, Allam R, Ramzan K, Al-Tassan N, Tahir AI, Al-Numair NS, Al-Hamed MH, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Al-Amoudi M, Qari A, Balobaid A, Al-Sayed M. Imtiaz F, et al. Among authors: balobaid a. Mol Genet Metab Rep. 2017 Apr 7;11:17-23. doi: 10.1016/j.ymgmr.2017.03.006. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28417071 Free PMC article.
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS. Maddirevula S, et al. Among authors: balobaid a. Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21. Genet Med. 2019. PMID: 30237576 Free PMC article.
Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
Hasan S, Balobaid A, Grottesi A, Dabbagh O, Cenciarini M, Rawashdeh R, Al-Sagheir A, Bove C, Macchioni L, Pessia M, Al-Owain M, D'Adamo MC. Hasan S, et al. Among authors: balobaid a. J Neurophysiol. 2017 Oct 1;118(4):2402-2411. doi: 10.1152/jn.00284.2017. Epub 2017 Jul 26. J Neurophysiol. 2017. PMID: 28747464 Free PMC article.
20 results