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Journal Abstract Search

259 related items for PubMed ID: 31970108

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly.
    Naseer MI, Abdulkareem AA, Muthaffar OY, Sogaty S, Alkhatabi H, Almaghrabi S, Chaudhary AG.
    Front Pediatr; 2020 Nov; 8():627122. PubMed ID: 33643967
    [Abstract] [Full Text] [Related]

  • 3. 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; 36(6):391-396. PubMed ID: 27920410
    [Abstract] [Full Text] [Related]

  • 4. Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families.
    Makhdoom EUH, Anwar H, Baig SM, Hussain G.
    Pak J Med Sci; 2022 Nov; 38(1):84-89. PubMed ID: 35035405
    [Abstract] [Full Text] [Related]

  • 5. A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly.
    Akbariazar E, Ebrahimpour M, Akbari S, Arzhanghi S, Abedini SS, Najmabadi H, Kahrizi K.
    Iran J Child Neurol; 2013 Nov; 7(2):23-30. PubMed ID: 24665293
    [Abstract] [Full Text] [Related]

  • 6. Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.
    Batool T, Irshad S, Mahmood K.
    Braz J Biol; 2021 Nov; 83():e246040. PubMed ID: 34378666
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 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 18; 8(9):e1408. PubMed ID: 32677750
    [Abstract] [Full Text] [Related]

  • 9. Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
    Hussain S, Nawaz A, Hamid M, Ullah W, Khan IN, Afshan M, Rehman A, Nawaz H, Halswick J, Rehman SU, Ahmad S, Muzammal M, Muhammad N, Jan A, Khan S, Windpassinger C, Khan MA.
    Biotechnol Appl Biochem; 2022 Dec 18; 69(6):2296-2303. PubMed ID: 34826358
    [Abstract] [Full Text] [Related]

  • 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 18; 22(3):159-164. PubMed ID: 29431480
    [Abstract] [Full Text] [Related]

  • 11. Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene.
    Türkyılmaz A, Sager SG.
    Mol Syndromol; 2022 Feb 18; 13(1):56-63. PubMed ID: 35221876
    [Abstract] [Full Text] [Related]

  • 12. 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 18; 39(3):319-332. PubMed ID: 29243349
    [Abstract] [Full Text] [Related]

  • 13. Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.
    Bhargav DS, Sreedevi N, Swapna N, Vivek S, Kovvali S.
    F1000Res; 2017 Mar 18; 6():2163. PubMed ID: 29375817
    [Abstract] [Full Text] [Related]

  • 14. 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 18; 149A(5):926-30. PubMed ID: 19353628
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  • 18. Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes.
    Bolat H, Sağer SG, Türkyılmaz A, Çebi AH, Akın Y, Onay H, Özkınay F, Ünsel-Bolat G.
    Mol Syndromol; 2022 Dec 18; 13(5):363-369. PubMed ID: 36588751
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  • 19. Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.
    Sarli A, Al Sudani ZM, Vaghefi F, Motallebi F, Khosravi T, Rezaie N, Oladnabi M.
    Mol Biol Rep; 2024 Jan 22; 51(1):181. PubMed ID: 38252227
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