These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

159 related items for PubMed ID: 32015000

  • 1. 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; 57(6):389-399. PubMed ID: 32015000
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
    Ben Ayed I, Bouchaala W, Bouzid A, Feki W, Souissi A, Ben Nsir S, Ben Said M, Sammouda T, Majdoub F, Kharrat I, Kamoun F, Elloumi I, Kamoun H, Tlili A, Masmoudi S, Triki C.
    Eur J Med Genet; 2021 Dec 15; 64(12):104373. PubMed ID: 34737153
    [Abstract] [Full Text] [Related]

  • 5. Congenital microcephaly-linked CDK5RAP2 affects eye development.
    Zaqout S, Ravindran E, Stoltenburg-Didinger G, Kaindl AM.
    Ann Hum Genet; 2020 Jan 15; 84(1):87-91. PubMed ID: 31355417
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 8(9):e1408. PubMed ID: 32677750
    [Abstract] [Full Text] [Related]

  • 7. Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
    Hassan MJ, Khurshid M, Azeem Z, John P, Ali G, Chishti MS, Ahmad W.
    BMC Med Genet; 2007 Sep 01; 8():58. PubMed ID: 17764569
    [Abstract] [Full Text] [Related]

  • 8. Proteome changes in autosomal recessive primary microcephaly.
    Zaqout S, Mannaa A, Klein O, Krajewski A, Klose J, Luise-Becker L, Elsabagh A, Ferih K, Kraemer N, Ravindran E, Makridis K, Kaindl AM.
    Ann Hum Genet; 2023 Mar 01; 87(1-2):50-62. PubMed ID: 36448252
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 292(2):365-383. PubMed ID: 28004182
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.
    Li MH, Arndt K, Das S, Weiss EM, Wu Y, Gwal K, Shekdar KV, Zackai EH.
    Am J Med Genet A; 2015 Jun 01; 167(6):1414-7. PubMed ID: 25899944
    [No Abstract] [Full Text] [Related]

  • 15. Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors.
    Lizarraga SB, Margossian SP, Harris MH, Campagna DR, Han AP, Blevins S, Mudbhary R, Barker JE, Walsh CA, Fleming MD.
    Development; 2010 Jun 01; 137(11):1907-17. PubMed ID: 20460369
    [Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. Cdk5rap2 exposes the centrosomal root of microcephaly syndromes.
    Megraw TL, Sharkey JT, Nowakowski RS.
    Trends Cell Biol; 2011 Aug 01; 21(8):470-80. PubMed ID: 21632253
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.