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Journal Abstract Search

388 related items for PubMed ID: 27920410

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  • 7. 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; 8(9):e1408. PubMed ID: 32677750
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  • 11. A Novel Frameshift Mutation in Abnormal Spindle-Like Microcephaly (ASPM) Gene in an Iranian Patient with Primary Microcephaly: A Case Report.
    Bazgir A, Agha Gholizadeh M, Sarvar F, Pakzad Z.
    Iran J Public Health; 2019 Nov; 48(11):2074-2078. PubMed ID: 31970108
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  • 13. 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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  • 14. 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; 46(4):249-53. PubMed ID: 19028728
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  • 15. The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.
    Alrayes N, Mohamoud HS, Ahmed S, Almramhi MM, Shuaib TM, Wang J, Al-Aama JY, Everett K, Nasir J, Jelani M.
    J Neurol Sci; 2016 Apr 15; 363():240-4. PubMed ID: 27000257
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  • 16. 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 Apr 15; 21(3):153-63. PubMed ID: 17849285
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  • 19. Autosomal recessive primary microcephaly due to ASPM mutations: An update.
    Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S.
    Hum Mutat; 2018 Mar 15; 39(3):319-332. PubMed ID: 29243349
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  • 20. 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 15; 92(1):62-68. PubMed ID: 28004384
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