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Journal Abstract Search

318 related items for PubMed ID: 27250695

  • 1. Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
    Abdel-Hamid MS, Ismail MF, Darwish HA, Effat LK, Zaki MS, Abdel-Salam GM.
    Am J Med Genet A; 2016 Aug; 170(8):2133-40. PubMed ID: 27250695
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  • 2. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
    Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A.
    Neurology; 2009 Sep 22; 73(12):962-9. PubMed ID: 19770472
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  • 3. Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.
    Desir J, Cassart M, David P, Van Bogaert P, Abramowicz M.
    Am J Med Genet A; 2008 Jun 01; 146A(11):1439-43. PubMed ID: 18452193
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  • 4. Protein-truncating mutations in ASPM cause variable reduction in brain size.
    Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG.
    Am J Hum Genet; 2003 Nov 01; 73(5):1170-7. PubMed ID: 14574646
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  • 5. 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 Nov 01; 21(3):153-63. PubMed ID: 17849285
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  • 6. 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 Nov 01; 36(6):391-396. PubMed ID: 27920410
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  • 8. 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
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  • 10. 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 01; 46(4):249-53. PubMed ID: 19028728
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  • 11. Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.
    Saadi A, Borck G, Boddaert N, Chekkour MC, Imessaoudene B, Munnich A, Colleaux L, Chaouch M.
    Eur J Med Genet; 2009 Apr 01; 52(4):180-4. PubMed ID: 19332161
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  • 12. 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
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  • 13. Compound heterozygous ASPM mutations in Pakistani MCPH families.
    Muhammad F, Mahmood Baig S, Hansen L, Sajid Hussain M, Anjum Inayat I, Aslam M, Anver Qureshi J, Toilat M, Kirst E, Wajid M, Nürnberg P, Eiberg H, Tommerup N, Kjaer KW.
    Am J Med Genet A; 2009 May 01; 149A(5):926-30. PubMed ID: 19353628
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  • 20. Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.
    Batool T, Irshad S, Mahmood K.
    Braz J Biol; 2021 May 01; 83():e246040. PubMed ID: 34378666
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