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Journal Abstract Search

548 related items for PubMed ID: 25951892

  • 1. 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; 8 Suppl 1(Suppl 1):S4. PubMed ID: 25951892
    [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. 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]

  • 4. Autosomal recessive primary microcephalies (MCPH).
    Kaindl AM.
    Eur J Paediatr Neurol; 2014 Jul 13; 18(4):547-8. PubMed ID: 24780602
    [Abstract] [Full Text] [Related]

  • 5.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Verloes A, Drunat S, Gressens P, Passemard S.
    ; 1993 Jul 13. PubMed ID: 20301772
    [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 13; 8(9):e1408. PubMed ID: 32677750
    [Abstract] [Full Text] [Related]

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

  • 8. Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.
    Khan MA, Windpassinger C, Ali MZ, Zubair M, Gul H, Abbas S, Khan S, Badar M, Mohammad RM, Nawaz Z.
    J Genet; 2017 Jun 13; 96(2):383-387. PubMed ID: 28674240
    [Abstract] [Full Text] [Related]

  • 9. What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).
    Morris-Rosendahl DJ, Kaindl AM.
    Mol Cell Probes; 2015 Oct 13; 29(5):271-81. PubMed ID: 26050940
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 13; 47(12):823-8. PubMed ID: 20978018
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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]

  • 14. 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]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.
    Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S.
    Ann Saudi Med; 2016 Jul 13; 36(6):391-396. PubMed ID: 27920410
    [Abstract] [Full Text] [Related]

  • 17. What primary microcephaly can tell us about brain growth.
    Cox J, Jackson AP, Bond J, Woods CG.
    Trends Mol Med; 2006 Aug 13; 12(8):358-66. PubMed ID: 16829198
    [Abstract] [Full Text] [Related]

  • 18. Exploring evolution of brain genes involved in microcephaly through phylogeny and synteny analysis.
    Rauf S, Mir A.
    Theor Biol Med Model; 2013 Oct 22; 10():61. PubMed ID: 24148351
    [Abstract] [Full Text] [Related]

  • 19. ASPM mutations identified in patients with primary microcephaly and seizures.
    Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA.
    J Med Genet; 2005 Sep 22; 42(9):725-9. PubMed ID: 16141009
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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