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Journal Abstract Search

202 related items for PubMed ID: 21961505

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
    Bhat V, Girimaji SC, Mohan G, Arvinda HR, Singhmar P, Duvvari MR, Kumar A.
    Clin Genet; 2011 Dec 01; 80(6):532-40. PubMed ID: 21496009
    [Abstract] [Full Text] [Related]

  • 3. 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 01; 25(6):715-20. PubMed ID: 19808985
    [Abstract] [Full Text] [Related]

  • 4. Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing.
    Wang R, Khan A, Han S, Zhang X.
    J Hum Genet; 2017 Feb 01; 62(2):299-304. PubMed ID: 27784895
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.
    Aslam K, Saeed A, Saeed HI, Bashir R, Abid H, Akhtar R, Habib N, Khan R, Asif R, Rafiq S, Asif M, Makhdoom EUH, Hussain MS, Baig SM, Anjum I.
    Mol Biol Rep; 2024 Jun 26; 51(1):783. PubMed ID: 38926176
    [Abstract] [Full Text] [Related]

  • 7. 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 26; 83(5):446-51. PubMed ID: 22775483
    [Abstract] [Full Text] [Related]

  • 8. 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 26; 92(1):62-68. PubMed ID: 28004384
    [Abstract] [Full Text] [Related]

  • 9. A novel WDR62 mutation causes primary microcephaly in a Pakistani family.
    Memon MM, Raza SI, Basit S, Kousar R, Ahmad W, Ansar M.
    Mol Biol Rep; 2013 Jan 26; 40(1):591-5. PubMed ID: 23065275
    [Abstract] [Full Text] [Related]

  • 10. A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
    Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L.
    J Appl Genet; 2019 May 26; 60(2):151-162. PubMed ID: 30706430
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
    Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS.
    Mol Genet Genomic Med; 2020 Sep 01; 8(9):e1408. PubMed ID: 32677750
    [Abstract] [Full Text] [Related]

  • 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 Sep 01; 21(3):153-63. PubMed ID: 17849285
    [Abstract] [Full Text] [Related]

  • 14. Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.
    Aryan H, Zokaei S, Farhud D, Keykhaei M, Ashrafi MR, Rasulinezhad M, Hosseini SMM, Razmara E, Tavasoli AR.
    Ir J Med Sci; 2022 Dec 01; 191(6):2733-2741. PubMed ID: 35031939
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
    Szczepanski S, Hussain MS, Sur I, Altmüller J, Thiele H, Abdullah U, Waseem SS, Moawia A, Nürnberg G, Noegel AA, Baig SM, Nürnberg P.
    Hum Genet; 2016 Feb 01; 135(2):157-70. PubMed ID: 26621532
    [Abstract] [Full Text] [Related]

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  • 18. WDR62 missense mutation in a consanguineous family with primary microcephaly.
    Bacino CA, Arriola LA, Wiszniewska J, Bonnen PE.
    Am J Med Genet A; 2012 Mar 01; 158A(3):622-5. PubMed ID: 22308068
    [Abstract] [Full Text] [Related]

  • 19. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
    Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoğlu D, Tüysüz B, Cağlayan AO, Gökben S, Kaymakçalan H, Barak T, Bakircioğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçinkaya C, Kumandaş S, Topçu M, Ozmen M, Sestan N, Lifton RP, State MW, Günel M.
    Nature; 2010 Sep 09; 467(7312):207-10. PubMed ID: 20729831
    [Abstract] [Full Text] [Related]

  • 20. Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.
    Banerjee S, Chen H, Huang H, Wu J, Yang Z, Deng W, Chen D, Deng J, Su Y, Li Y, Wu C, Wang Y, Zeng H, Wang Y, Li X.
    Oncotarget; 2016 Nov 29; 7(48):78363-78371. PubMed ID: 27852057
    [Abstract] [Full Text] [Related]

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