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The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.
Muzammal M, Ali MZ, Ahmad S, Huma S; Rizwan; Ahmad S, Abbasi AA, Khan S, Khan MA. Muzammal M, et al. Among authors: abbasi aa. J Pak Med Assoc. 2021 Oct;71(10):2391-2396. doi: 10.47391/JPMA.03-476. J Pak Med Assoc. 2021. PMID: 34974577 Free article. Review.
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.
Muzammal M, Zubair M, Bierbaumer S, Blatterer J, Graf R, Gul A, Abbas S, Badar M, Abbasi AA, Khan MA, Windpassinger C. Muzammal M, et al. Among authors: abbasi aa. Mol Genet Genomic Med. 2019 Aug;7(8):e834. doi: 10.1002/mgg3.834. Epub 2019 Jul 11. Mol Genet Genomic Med. 2019. PMID: 31294530 Free PMC article.
Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
Sajid Z, Yousaf S, Waryah YM, Mughal TA, Kausar T, Shahzad M, Rao AR, Abbasi AA, Shaikh RS, Waryah AM, Riazuddin S, Ahmed ZM. Sajid Z, et al. Among authors: abbasi aa. Genes (Basel). 2021 Mar 28;12(4):492. doi: 10.3390/genes12040492. Genes (Basel). 2021. PMID: 33800529 Free PMC article.
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Schaflinger E, Blatterer J, Khan AS, Kaufmann L, Auinger L, Tatrai B, Abbasi SW, Zeeshan Ali M, Abbasi AA, Al Kaissi A, Petek E, Wagner K, Ahmad Khan M, Windpassinger C. Schaflinger E, et al. Among authors: abbasi sw, abbasi aa. Gene. 2022 Jul 30;833:146582. doi: 10.1016/j.gene.2022.146582. Epub 2022 May 18. Gene. 2022. PMID: 35597529 Free article.
Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.
Blaesius K, Abbasi AA, Tahir TH, Tietze A, Picker-Minh S, Ali G, Farooq S, Hu H, Latif Z, Khan MN, Kaindl A. Blaesius K, et al. Among authors: abbasi aa. Am J Med Genet A. 2018 Nov;176(11):2517-2521. doi: 10.1002/ajmg.a.38631. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289604 No abstract available.
Genetic causes of MCPH in consanguineous Pakistani families.
Kraemer N, Picker-Minh S, Abbasi AA, Fröhler S, Ninnemann O, Khan MN, Ali G, Chen W, Kaindl AM. Kraemer N, et al. Among authors: abbasi aa. Clin Genet. 2016 Jun;89(6):744-5. doi: 10.1111/cge.12685. Epub 2015 Nov 8. Clin Genet. 2016. PMID: 26548919 No abstract available.
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG. Law R, et al. Among authors: abbasi aa. Am J Hum Genet. 2014 Dec 4;95(6):721-8. doi: 10.1016/j.ajhg.2014.10.016. Am J Hum Genet. 2014. PMID: 25480035 Free PMC article.
113 results