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145 related items for PubMed ID: 35327983

  • 1. Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits.
    von Wrede R, Schidlowski M, Huppertz HJ, Rüber T, Ivo A, Baumgartner T, Hallmann K, Zsurka G, Helmstaedter C, Surges R, Kunz WS.
    Genes (Basel); 2022 Feb 25; 13(3):. PubMed ID: 35327983
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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. 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 22; 73(5):1170-7. PubMed ID: 14574646
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  • 4. 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 22; 170(8):2133-40. PubMed ID: 27250695
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  • 5. 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 22; 39(3):319-332. PubMed ID: 29243349
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  • 6. 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 Mar 22; 21(3):153-63. PubMed ID: 17849285
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  • 8. 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 22; 25(6):715-20. PubMed ID: 19808985
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  • 9. Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.
    Khan MA, Windpassinger C, Ali MZ, Zubair M, Gul H, Abbas S, Khan S, Badar M, Mohammad RM, Nawaz Z.
    J Genet; 2017 Jun 22; 96(2):383-387. PubMed ID: 28674240
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  • 10. 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 22; 22(3):159-164. PubMed ID: 29431480
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  • 13. 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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  • 18. Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.
    Tan CA, del Gaudio D, Dempsey MA, Arndt K, Botes S, Reeder A, Das S.
    Clin Genet; 2014 Apr 01; 85(4):353-8. PubMed ID: 23611254
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