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Journal Abstract Search

156 related items for PubMed ID: 35089071

  • 1. A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.
    Naqvi SF, Shabbir RMK, Tolun A, Basit S, Malik S.
    Genet Test Mol Biomarkers; 2022 Jan; 26(1):37-42. PubMed ID: 35089071
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  • 2. A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.
    Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S.
    Ann Saudi Med; 2016 Jan; 36(6):391-396. PubMed ID: 27920410
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  • 3. Genetic heterogeneity in Pakistani microcephaly families revisited.
    Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MMA, Hassan I, Rehman SU, Thiele H, Altmüller J, Noegel AA, Nürnberg P.
    Clin Genet; 2017 Jul; 92(1):62-68. PubMed ID: 28004384
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  • 5. Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.
    Batool T, Irshad S, Mahmood K.
    Braz J Biol; 2021 Jul; 83():e246040. PubMed ID: 34378666
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  • 6. Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.
    Khan A, Wang R, Han S, Ahmad W, Zhang X.
    Genet Test Mol Biomarkers; 2018 Mar; 22(3):159-164. PubMed ID: 29431480
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  • 10. Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.
    Kousar R, Nawaz H, Khurshid M, Ali G, Khan SU, Mir H, Ayub M, Wali A, Ali N, Jelani M, Basit S, Ahmad W, Ansar M.
    J Child Neurol; 2010 Jun; 25(6):715-20. PubMed ID: 19808985
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  • 11. Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.
    Gul A, Hassan MJ, Mahmood S, Chen W, Rahmani S, Naseer MI, Dellefave L, Muhammad N, Rafiq MA, Ansar M, Chishti MS, Ali G, Siddique T, Ahmad W.
    Neurogenetics; 2006 May; 7(2):105-10. PubMed ID: 16673149
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  • 12. Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families.
    Makhdoom EUH, Anwar H, Baig SM, Hussain G.
    Pak J Med Sci; 2022 May; 38(1):84-89. PubMed ID: 35035405
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  • 13. Genetic heterogeneity in Pakistani microcephaly families.
    Sajid Hussain M, Marriam Bakhtiar S, Farooq M, Anjum I, Janzen E, Reza Toliat M, Eiberg H, Kjaer KW, Tommerup N, Noegel AA, Nürnberg P, Baig SM, Hansen L.
    Clin Genet; 2013 May; 83(5):446-51. PubMed ID: 22775483
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  • 14. Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly.
    Naseer MI, Abdulkareem AA, Muthaffar OY, Sogaty S, Alkhatabi H, Almaghrabi S, Chaudhary AG.
    Front Pediatr; 2020 May; 8():627122. PubMed ID: 33643967
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  • 15. [Genetic analysis of a child with autosomal recessive primary microcephaly due to variant of ASPM gene and a literature review].
    Wang J, Wang X, Zhang L, Huang Y, Sha R, An J, Wu Y, Guo Z, Jia Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Oct 10; 41(10):1243-1248. PubMed ID: 39344621
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  • 20. The molecular landscape of ASPM mutations in primary microcephaly.
    Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG.
    J Med Genet; 2009 Apr 10; 46(4):249-53. PubMed ID: 19028728
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