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Journal Abstract Search

201 related items for PubMed ID: 28004384

  • 1. 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. Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.
    Khan MA, Windpassinger C, Ali MZ, Zubair M, Gul H, Abbas S, Khan S, Badar M, Mohammad RM, Nawaz Z.
    J Genet; 2017 Jun; 96(2):383-387. PubMed ID: 28674240
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  • 7. Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population.
    Khan NM, Hussain B, Zheng C, Khan A, Masoud MS, Gu Q, Qiu L, Malik NA, Qasim M, Tariq M, Chang J.
    Front Pediatr; 2021 Jun; 9():695133. PubMed ID: 34295862
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  • 8. The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.
    Tan CA, Topper S, Ward Melver C, Stein J, Reeder A, Arndt K, Das S.
    Brain Dev; 2014 Apr; 36(4):351-5. PubMed ID: 23726037
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  • 9. Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
    Hassan MJ, Khurshid M, Azeem Z, John P, Ali G, Chishti MS, Ahmad W.
    BMC Med Genet; 2007 Sep 01; 8():58. PubMed ID: 17764569
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  • 10. 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 01; 26(1):37-42. PubMed ID: 35089071
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  • 11. 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 01; 22(3):159-164. PubMed ID: 29431480
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  • 12. Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
    Hussain S, Nawaz A, Hamid M, Ullah W, Khan IN, Afshan M, Rehman A, Nawaz H, Halswick J, Rehman SU, Ahmad S, Muzammal M, Muhammad N, Jan A, Khan S, Windpassinger C, Khan MA.
    Biotechnol Appl Biochem; 2022 Dec 01; 69(6):2296-2303. PubMed ID: 34826358
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  • 13. Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.
    Gul A, Tariq M, Khan MN, Hassan MJ, Ali G, Ahmad W.
    J Neurogenet; 2007 Dec 01; 21(3):153-63. PubMed ID: 17849285
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  • 14. 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 01; 7(2):105-10. PubMed ID: 16673149
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  • 15. Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.
    Kousar R, Hassan MJ, Khan B, Basit S, Mahmood S, Mir A, Ahmad W, Ansar M.
    BMC Neurol; 2011 Oct 01; 11():119. PubMed ID: 21961505
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  • 16. Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
    Khan NM, Masoud MS, Baig SM, Qasim M, Chang J.
    Biomed Res Int; 2022 Oct 01; 2022():3769948. PubMed ID: 35281599
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  • 17. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.
    Kumar A, Girimaji SC, Duvvari MR, Blanton SH.
    Am J Hum Genet; 2009 Feb 01; 84(2):286-90. PubMed ID: 19215732
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  • 18. 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 Feb 01; 36(6):391-396. PubMed ID: 27920410
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  • 19. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.
    Woods CG, Bond J, Enard W.
    Am J Hum Genet; 2005 May 01; 76(5):717-28. PubMed ID: 15806441
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  • 20. 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 01; 38(1):84-89. PubMed ID: 35035405
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