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Journal Abstract Search

250 related items for PubMed ID: 15355437

  • 1. Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations.
    Kumar A, Blanton SH, Babu M, Markandaya M, Girimaji SC.
    Clin Genet; 2004 Oct; 66(4):341-8. PubMed ID: 15355437
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  • 2. 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
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  • 3. Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.
    Gul A, Hassan MJ, Mahmood S, Chen W, Rahmani S, Naseer MI, Dellefave L, Muhammad N, Rafiq MA, Ansar M, Chishti MS, Ali G, Siddique T, Ahmad W.
    Neurogenetics; 2006 May; 7(2):105-10. PubMed ID: 16673149
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  • 4. 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; 47(12):823-8. PubMed ID: 20978018
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  • 7. Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.
    Gul A, Tariq M, Khan MN, Hassan MJ, Ali G, Ahmad W.
    J Neurogenet; 2007 Dec; 21(3):153-63. PubMed ID: 17849285
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  • 11. The molecular landscape of ASPM mutations in primary microcephaly.
    Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG.
    J Med Genet; 2009 Apr; 46(4):249-53. PubMed ID: 19028728
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  • 15. 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; 149A(5):926-30. PubMed ID: 19353628
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  • 16. A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.
    Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H.
    Clin Genet; 2008 Sep; 74(3):274-8. PubMed ID: 18492089
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  • 18. 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; 83(5):446-51. PubMed ID: 22775483
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  • 19. Genetic heterogeneity in Pakistani microcephaly families revisited.
    Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MMA, Hassan I, Rehman SU, Thiele H, Altmüller J, Noegel AA, Nürnberg P.
    Clin Genet; 2017 Jul; 92(1):62-68. PubMed ID: 28004384
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  • 20. PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
    Vouk K, Strmecki L, Stekrova J, Reiterova J, Bidovec M, Hudler P, Kenig A, Jereb S, Zupanic-Pajnic I, Balazic J, Haarpaintner G, Leskovar B, Adamlje A, Skoflic A, Dovc R, Hojs R, Komel R.
    BMC Med Genet; 2006 Jan 23; 7():6. PubMed ID: 16430766
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