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Journal Abstract Search

375 related items for PubMed ID: 27852057

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  • 9. A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
    Cherkaoui Jaouad I, Zrhidri A, Jdioui W, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A.
    BMC Med Genet; 2018 Jul 18; 19(1):118. PubMed ID: 30021525
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  • 12. 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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  • 17. 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
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  • 18. 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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  • 19. 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 15; 8(9):e1408. PubMed ID: 32677750
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  • 20. 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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