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Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.
Abdel Aleem A, Elsaid MF, Chalhoub N, Chakroun A, Mohamed KAS, AlShami R, Kuzu O, Mohamed RB, Ibrahim K, AlMudheki N, Osman O, Ross ME, ELalamy O. Abdel Aleem A, et al. Neuromuscul Disord. 2020 Jun;30(6):457-471. doi: 10.1016/j.nmd.2020.03.009. Epub 2020 Apr 17. Neuromuscul Disord. 2020. PMID: 32444167
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.
Aguiar-Pulido V, Wolujewicz P, Martinez-Fundichely A, Elhaik E, Thareja G, Abdel Aleem A, Chalhoub N, Cuykendall T, Al-Zamer J, Lei Y, El-Bashir H, Musser JM, Al-Kaabi A, Shaw GM, Khurana E, Suhre K, Mason CE, Elemento O, Finnell RH, Ross ME. Aguiar-Pulido V, et al. Proc Natl Acad Sci U S A. 2021 Dec 21;118(51):e2106844118. doi: 10.1073/pnas.2106844118. Proc Natl Acad Sci U S A. 2021. PMID: 34916285 Free PMC article.
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG. Bielas SL, et al. Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9. Nat Genet. 2009. PMID: 19668216 Free PMC article.
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG; International JSRD Study Group. Valente EM, et al. Ann Neurol. 2006 Mar;59(3):527-34. doi: 10.1002/ana.20749. Ann Neurol. 2006. PMID: 16453322 Free article.
59 results