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Journal Abstract Search

147 related items for PubMed ID: 22806269

  • 1. CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly.
    Issa L, Kraemer N, Rickert CH, Sifringer M, Ninnemann O, Stoltenburg-Didinger G, Kaindl AM.
    Cereb Cortex; 2013 Sep; 23(9):2245-60. PubMed ID: 22806269
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  • 4. Novel Alternative Splice Variants of Mouse Cdk5rap2.
    Kraemer N, Issa-Jahns L, Neubert G, Ravindran E, Mani S, Ninnemann O, Kaindl AM.
    PLoS One; 2015 Sep; 10(8):e0136684. PubMed ID: 26322982
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  • 6. Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.
    Issa L, Mueller K, Seufert K, Kraemer N, Rosenkotter H, Ninnemann O, Buob M, Kaindl AM, Morris-Rosendahl DJ.
    Orphanet J Rare Dis; 2013 Apr 15; 8():59. PubMed ID: 23587236
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  • 7. 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 15; 36(4):351-5. PubMed ID: 23726037
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  • 9. Altered inhibition and excitation in neocortical circuits in congenital microcephaly.
    Zaqout S, Blaesius K, Wu YJ, Ott S, Kraemer N, Becker LL, Rosário M, Rosenmund C, Strauss U, Kaindl AM.
    Neurobiol Dis; 2019 Sep 15; 129():130-143. PubMed ID: 31102767
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  • 10. Cdk5rap2 interacts with pericentrin to maintain the neural progenitor pool in the developing neocortex.
    Buchman JJ, Tseng HC, Zhou Y, Frank CL, Xie Z, Tsai LH.
    Neuron; 2010 May 13; 66(3):386-402. PubMed ID: 20471352
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  • 13. What's the hype about CDK5RAP2?
    Kraemer N, Issa L, Hauck SC, Mani S, Ninnemann O, Kaindl AM.
    Cell Mol Life Sci; 2011 May 13; 68(10):1719-36. PubMed ID: 21327915
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  • 14. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.
    Woods CG, Bond J, Enard W.
    Am J Hum Genet; 2005 May 13; 76(5):717-28. PubMed ID: 15806441
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  • 15. 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 13; 8(9):e1408. PubMed ID: 32677750
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  • 16. Many roads lead to primary autosomal recessive microcephaly.
    Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P.
    Prog Neurobiol; 2010 Mar 13; 90(3):363-83. PubMed ID: 19931588
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  • 19. [Update on autosomal recessive primary microcephaly (MCPH)-associated proteins].
    Wang YJ, Zhou XK, Xu D.
    Yi Chuan; 2019 Oct 20; 41(10):905-918. PubMed ID: 31624053
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  • 20. A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.
    Abdullah U, Farooq M, Mang Y, Marriam Bakhtiar S, Fatima A, Hansen L, Kjaer KW, Larsen LA, Faryal S, Tommerup N, Mahmood Baig S.
    Eur J Med Genet; 2017 Dec 20; 60(12):627-630. PubMed ID: 28778786
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