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Journal Abstract Search

306 related items for PubMed ID: 20598275

  • 1. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
    Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME.
    Am J Hum Genet; 2010 Jul 09; 87(1):40-51. PubMed ID: 20598275
    [Abstract] [Full Text] [Related]

  • 2. A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
    Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S, Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi MJ, Ghani M, Garshasbi M, Rakhshani F, Naghavi A, Tzschach A, Neitzel H, Ropers HH, Kuss AW, Behjati F, Kahrizi K, Najmabadi H.
    J Med Genet; 2010 Dec 09; 47(12):823-8. PubMed ID: 20978018
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  • 3. 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 09; 80(6):532-40. PubMed ID: 21496009
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  • 4. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
    Hussain MS, Baig SM, Neumann S, Nürnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmüller J, Frommolt P, Thiele H, Noegel AA, Nürnberg P.
    Am J Hum Genet; 2012 May 04; 90(5):871-8. PubMed ID: 22521416
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  • 5. Genetic heterogeneity in Pakistani microcephaly families.
    Sajid Hussain M, Marriam Bakhtiar S, Farooq M, Anjum I, Janzen E, Reza Toliat M, Eiberg H, Kjaer KW, Tommerup N, Noegel AA, Nürnberg P, Baig SM, Hansen L.
    Clin Genet; 2013 May 04; 83(5):446-51. PubMed ID: 22775483
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  • 6.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Verloes A, Drunat S, Gressens P, Passemard S.
    ; 1993 May 04. PubMed ID: 20301772
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  • 11. Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
    Mahmood S, Ahmad W, Hassan MJ.
    Orphanet J Rare Dis; 2011 Jun 13; 6():39. PubMed ID: 21668957
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  • 12. 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
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  • 13. 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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  • 20. Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly.
    Zhang Y, Li H, Pang J, Peng Y, Shu L, Wang H.
    Clin Chim Acta; 2019 Apr 15; 491():15-18. PubMed ID: 30639237
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