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Journal Abstract Search

311 related items for PubMed ID: 19931588

  • 41. CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
    Sukumaran SK, Stumpf M, Salamon S, Ahmad I, Bhattacharya K, Fischer S, Müller R, Altmüller J, Budde B, Thiele H, Tariq M, Malik NA, Nürnberg P, Baig SM, Hussain MS, Noegel AA.
    Mol Genet Genomics; 2017 Apr; 292(2):365-383. PubMed ID: 28004182
    [Abstract] [Full Text] [Related]

  • 42. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
    Bhat V, Girimaji SC, Mohan G, Arvinda HR, Singhmar P, Duvvari MR, Kumar A.
    Clin Genet; 2011 Dec; 80(6):532-40. PubMed ID: 21496009
    [Abstract] [Full Text] [Related]

  • 43. WDR62 is associated with the spindle pole and is mutated in human microcephaly.
    Nicholas AK, Khurshid M, Désir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG.
    Nat Genet; 2010 Nov; 42(11):1010-4. PubMed ID: 20890279
    [Abstract] [Full Text] [Related]

  • 44. 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]

  • 45. Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression.
    Novorol C, Burkhardt J, Wood KJ, Iqbal A, Roque C, Coutts N, Almeida AD, He J, Wilkinson CJ, Harris WA.
    Open Biol; 2013 Oct 23; 3(10):130065. PubMed ID: 24153002
    [Abstract] [Full Text] [Related]

  • 46. 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 23; 170(8):2133-40. PubMed ID: 27250695
    [Abstract] [Full Text] [Related]

  • 47. ASPM mutations identified in patients with primary microcephaly and seizures.
    Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA.
    J Med Genet; 2005 Sep 23; 42(9):725-9. PubMed ID: 16141009
    [Abstract] [Full Text] [Related]

  • 48. 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 23; 48(11):2074-2078. PubMed ID: 31970108
    [Abstract] [Full Text] [Related]

  • 49. [Molecular genetics of lissencephaly and microcephaly].
    Mochida GH.
    Brain Nerve; 2008 Apr 23; 60(4):437-44. PubMed ID: 18421985
    [Abstract] [Full Text] [Related]

  • 50. Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
    Khan NM, Masoud MS, Baig SM, Qasim M, Chang J.
    Biomed Res Int; 2022 Apr 23; 2022():3769948. PubMed ID: 35281599
    [Abstract] [Full Text] [Related]

  • 51. Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.
    Saadi A, Borck G, Boddaert N, Chekkour MC, Imessaoudene B, Munnich A, Colleaux L, Chaouch M.
    Eur J Med Genet; 2009 Apr 23; 52(4):180-4. PubMed ID: 19332161
    [Abstract] [Full Text] [Related]

  • 52. Exploring evolution of brain genes involved in microcephaly through phylogeny and synteny analysis.
    Rauf S, Mir A.
    Theor Biol Med Model; 2013 Oct 22; 10():61. PubMed ID: 24148351
    [Abstract] [Full Text] [Related]

  • 53. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
    Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S.
    J Med Genet; 2020 Jun 22; 57(6):389-399. PubMed ID: 32015000
    [Abstract] [Full Text] [Related]

  • 54. 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
    [Abstract] [Full Text] [Related]

  • 55. 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 22; 13(5):363-369. PubMed ID: 36588751
    [Abstract] [Full Text] [Related]

  • 56. 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
    [Abstract] [Full Text] [Related]

  • 57. Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size.
    Johnson MB, Sun X, Kodani A, Borges-Monroy R, Girskis KM, Ryu SC, Wang PP, Patel K, Gonzalez DM, Woo YM, Yan Z, Liang B, Smith RS, Chatterjee M, Coman D, Papademetris X, Staib LH, Hyder F, Mandeville JB, Grant PE, Im K, Kwak H, Engelhardt JF, Walsh CA, Bae BI.
    Nature; 2018 Apr 22; 556(7701):370-375. PubMed ID: 29643508
    [Abstract] [Full Text] [Related]

  • 58. What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).
    Morris-Rosendahl DJ, Kaindl AM.
    Mol Cell Probes; 2015 Oct 22; 29(5):271-81. PubMed ID: 26050940
    [Abstract] [Full Text] [Related]

  • 59. Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
    Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M.
    Hum Mol Genet; 2012 Dec 15; 21(24):5306-17. PubMed ID: 22983954
    [Abstract] [Full Text] [Related]

  • 60. Adaptive evolution of four microcephaly genes and the evolution of brain size in anthropoid primates.
    Montgomery SH, Capellini I, Venditti C, Barton RA, Mundy NI.
    Mol Biol Evol; 2011 Jan 15; 28(1):625-38. PubMed ID: 20961963
    [Abstract] [Full Text] [Related]

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