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Journal Abstract Search

311 related items for PubMed ID: 19931588

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. ASPM is a major determinant of cerebral cortical size.
    Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG.
    Nat Genet; 2002 Oct; 32(2):316-20. PubMed ID: 12355089
    [Abstract] [Full Text] [Related]

  • 23. 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; 36(4):351-5. PubMed ID: 23726037
    [Abstract] [Full Text] [Related]

  • 24. [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]

  • 25. 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 20; 7(2):105-10. PubMed ID: 16673149
    [Abstract] [Full Text] [Related]

  • 26. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
    Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A.
    Neurology; 2009 Sep 22; 73(12):962-9. PubMed ID: 19770472
    [Abstract] [Full Text] [Related]

  • 27. Primary microcephaly: do all roads lead to Rome?
    Thornton GK, Woods CG.
    Trends Genet; 2009 Nov 22; 25(11):501-10. PubMed ID: 19850369
    [Abstract] [Full Text] [Related]

  • 28. CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly.
    Issa L, Kraemer N, Rickert CH, Sifringer M, Ninnemann O, Stoltenburg-Didinger G, Kaindl AM.
    Cereb Cortex; 2013 Sep 22; 23(9):2245-60. PubMed ID: 22806269
    [Abstract] [Full Text] [Related]

  • 29. Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene.
    Türkyılmaz A, Sager SG.
    Mol Syndromol; 2022 Feb 22; 13(1):56-63. PubMed ID: 35221876
    [Abstract] [Full Text] [Related]

  • 30. Molecular and cellular basis of autosomal recessive primary microcephaly.
    Barbelanne M, Tsang WY.
    Biomed Res Int; 2014 Feb 22; 2014():547986. PubMed ID: 25548773
    [Abstract] [Full Text] [Related]

  • 31. Deficient adaptation to centrosome duplication defects in neural progenitors causes microcephaly and subcortical heterotopias.
    González-Martínez J, Cwetsch AW, Martínez-Alonso D, López-Sainz LR, Almagro J, Melati A, Gómez J, Pérez-Martínez M, Megías D, Boskovic J, Gilabert-Juan J, Graña-Castro O, Pierani A, Behrens A, Ortega S, Malumbres M.
    JCI Insight; 2021 Aug 23; 6(16):. PubMed ID: 34237032
    [Abstract] [Full Text] [Related]

  • 32. 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 23; 149A(5):926-30. PubMed ID: 19353628
    [Abstract] [Full Text] [Related]

  • 33. 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]

  • 34. Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.
    Tan CA, del Gaudio D, Dempsey MA, Arndt K, Botes S, Reeder A, Das S.
    Clin Genet; 2014 Apr 29; 85(4):353-8. PubMed ID: 23611254
    [Abstract] [Full Text] [Related]

  • 35. 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 29; 92(1):62-68. PubMed ID: 28004384
    [Abstract] [Full Text] [Related]

  • 36. 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 29; 87(1-2):50-62. PubMed ID: 36448252
    [Abstract] [Full Text] [Related]

  • 37. Cdk5rap2 exposes the centrosomal root of microcephaly syndromes.
    Megraw TL, Sharkey JT, Nowakowski RS.
    Trends Cell Biol; 2011 Aug 29; 21(8):470-80. PubMed ID: 21632253
    [Abstract] [Full Text] [Related]

  • 38. 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 29; 66(4):341-8. PubMed ID: 15355437
    [Abstract] [Full Text] [Related]

  • 39. Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory.
    Passemard S, Verloes A, Billette de Villemeur T, Boespflug-Tanguy O, Hernandez K, Laurent M, Isidor B, Alberti C, Pouvreau N, Drunat S, Gérard B, El Ghouzzi V, Gallego J, Elmaleh-Bergès M, Huttner WB, Eliez S, Gressens P, Schaer M.
    Cortex; 2016 Jan 29; 74():158-76. PubMed ID: 26691732
    [Abstract] [Full Text] [Related]

  • 40. Protein-truncating mutations in ASPM cause variable reduction in brain size.
    Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG.
    Am J Hum Genet; 2003 Nov 29; 73(5):1170-7. PubMed ID: 14574646
    [Abstract] [Full Text] [Related]

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