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463 related items for PubMed ID: 15806441

  • 1. 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; 76(5):717-28. PubMed ID: 15806441
    [Abstract] [Full Text] [Related]

  • 2. Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).
    Naveed M, Kazmi SK, Amin M, Asif Z, Islam U, Shahid K, Tehreem S.
    Genet Res (Camb); 2018 Aug 08; 100():e7. PubMed ID: 30086807
    [Abstract] [Full Text] [Related]

  • 3. What primary microcephaly can tell us about brain growth.
    Cox J, Jackson AP, Bond J, Woods CG.
    Trends Mol Med; 2006 Aug 08; 12(8):358-66. PubMed ID: 16829198
    [Abstract] [Full Text] [Related]

  • 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 08; 47(12):823-8. PubMed ID: 20978018
    [Abstract] [Full Text] [Related]

  • 5. Genetic basis of brain size evolution in cetaceans: insights from adaptive evolution of seven primary microcephaly (MCPH) genes.
    Xu S, Sun X, Niu X, Zhang Z, Tian R, Ren W, Zhou K, Yang G.
    BMC Evol Biol; 2017 Aug 29; 17(1):206. PubMed ID: 28851290
    [Abstract] [Full Text] [Related]

  • 6. 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 29; 90(3):363-83. PubMed ID: 19931588
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Molecular genetics of human primary microcephaly: an overview.
    Faheem M, Naseer MI, Rasool M, Chaudhary AG, Kumosani TA, Ilyas AM, Pushparaj P, Ahmed F, Algahtani HA, Al-Qahtani MH, Saleh Jamal H.
    BMC Med Genomics; 2015 Jun 13; 8 Suppl 1(Suppl 1):S4. PubMed ID: 25951892
    [Abstract] [Full Text] [Related]

  • 9. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.
    Kumar A, Girimaji SC, Duvvari MR, Blanton SH.
    Am J Hum Genet; 2009 Feb 13; 84(2):286-90. PubMed ID: 19215732
    [Abstract] [Full Text] [Related]

  • 10. 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 13; 83(5):446-51. PubMed ID: 22775483
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Verloes A, Drunat S, Gressens P, Passemard S.
    ; 1993 Sep 13. PubMed ID: 20301772
    [Abstract] [Full Text] [Related]

  • 13. 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 13; 92(1):62-68. PubMed ID: 28004384
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Autosomal recessive primary microcephalies (MCPH).
    Kaindl AM.
    Eur J Paediatr Neurol; 2014 Jul 15; 18(4):547-8. PubMed ID: 24780602
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 Sep 01; 21(3):153-63. PubMed ID: 17849285
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 7(2):105-10. PubMed ID: 16673149
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 20. 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 Oct 20; 2022():3769948. PubMed ID: 35281599
    [Abstract] [Full Text] [Related]

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