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Journal Abstract Search

285 related items for PubMed ID: 20978018

  • 21. Autosomal recessive primary microcephalies (MCPH).
    Kaindl AM.
    Eur J Paediatr Neurol; 2014 Jul; 18(4):547-8. PubMed ID: 24780602
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  • 22. 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; 73(5):1170-7. PubMed ID: 14574646
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  • 25. 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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  • 31. Molecular genetics of human primary microcephaly: an overview.
    Faheem M, Naseer MI, Rasool M, Chaudhary AG, Kumosani TA, Ilyas AM, Pushparaj P, Ahmed F, Algahtani HA, Al-Qahtani MH, Saleh Jamal H.
    BMC Med Genomics; 2015 Oct 01; 8 Suppl 1(Suppl 1):S4. PubMed ID: 25951892
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  • 33. 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 01; 36(4):351-5. PubMed ID: 23726037
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  • 37. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
    Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H.
    Hum Genet; 2006 Feb 01; 118(6):708-15. PubMed ID: 16311745
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  • 38. 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 01; 39(3):319-332. PubMed ID: 29243349
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  • 39. A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.
    Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W.
    J Hum Genet; 2006 Mar 01; 51(9):760-764. PubMed ID: 16900296
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  • 40. 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 01; 170(8):2133-40. PubMed ID: 27250695
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