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Journal Abstract Search

232 related items for PubMed ID: 14574646

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

  • 22. Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.
    Kousar R, Hassan MJ, Khan B, Basit S, Mahmood S, Mir A, Ahmad W, Ansar M.
    BMC Neurol; 2011 Oct 01; 11():119. PubMed ID: 21961505
    [Abstract] [Full Text] [Related]

  • 23.
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  • 24. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.
    Roberts E, Hampshire DJ, Pattison L, Springell K, Jafri H, Corry P, Mannon J, Rashid Y, Crow Y, Bond J, Woods CG.
    J Med Genet; 2002 Oct 01; 39(10):718-21. PubMed ID: 12362027
    [Abstract] [Full Text] [Related]

  • 25. Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits.
    von Wrede R, Schidlowski M, Huppertz HJ, Rüber T, Ivo A, Baumgartner T, Hallmann K, Zsurka G, Helmstaedter C, Surges R, Kunz WS.
    Genes (Basel); 2022 Feb 25; 13(3):. PubMed ID: 35327983
    [Abstract] [Full Text] [Related]

  • 26. A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.
    Pichon B, Vankerckhove S, Bourrouillou G, Duprez L, Abramowicz MJ.
    Eur J Hum Genet; 2004 May 25; 12(5):419-21. PubMed ID: 14997185
    [Abstract] [Full Text] [Related]

  • 27. 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]

  • 28. Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing.
    Wang R, Khan A, Han S, Zhang X.
    J Hum Genet; 2017 Feb 15; 62(2):299-304. PubMed ID: 27784895
    [Abstract] [Full Text] [Related]

  • 29. Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline.
    Pulvers JN, Bryk J, Fish JL, Wilsch-Bräuninger M, Arai Y, Schreier D, Naumann R, Helppi J, Habermann B, Vogt J, Nitsch R, Tóth A, Enard W, Pääbo S, Huttner WB.
    Proc Natl Acad Sci U S A; 2010 Sep 21; 107(38):16595-600. PubMed ID: 20823249
    [Abstract] [Full Text] [Related]

  • 30. A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.
    Naqvi SF, Shabbir RMK, Tolun A, Basit S, Malik S.
    Genet Test Mol Biomarkers; 2022 Jan 21; 26(1):37-42. PubMed ID: 35089071
    [Abstract] [Full Text] [Related]

  • 31. 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]

  • 32. A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
    Waseem SS, Moawia A, Budde B, Tariq M, Khan A, Ali Z, Khan S, Iqbal M, Malik NA, Haque SU, Altmüller J, Thiele H, Hussain MS, Cirak S, Baig SM, Nürnberg P.
    Genes (Basel); 2021 Sep 24; 12(10):. PubMed ID: 34680889
    [Abstract] [Full Text] [Related]

  • 33. A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.
    Ghafouri-Fard S, Fardaei M, Gholami M, Miryounesi M.
    Gene; 2015 Oct 15; 571(1):149-50. PubMed ID: 26192461
    [Abstract] [Full Text] [Related]

  • 34. Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.
    Chograni M, Chaabouni M, Mâazoul F, Bouzid H, Kraiem A, Chaabouni HB.
    BMC Ophthalmol; 2011 Nov 21; 11():35. PubMed ID: 22103961
    [Abstract] [Full Text] [Related]

  • 35. Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly.
    Xu S, Zhang W, Zhou R, Huang H, Chen W, Xiang W, Liu L, Song J.
    Clin Dysmorphol; 2022 Jan 01; 31(1):1-5. PubMed ID: 34693918
    [Abstract] [Full Text] [Related]

  • 36. 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 01; 76(5):717-28. PubMed ID: 15806441
    [Abstract] [Full Text] [Related]

  • 37. Refining the phenotype associated with CASC5 mutation.
    Saadi A, Verny F, Siquier-Pernet K, Bole-Feysot C, Nitschke P, Munnich A, Abada-Dendib M, Chaouch M, Abramowicz M, Colleaux L.
    Neurogenetics; 2016 Jan 01; 17(1):71-8. PubMed ID: 26626498
    [Abstract] [Full Text] [Related]

  • 38. A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.
    Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W.
    J Hum Genet; 2006 Jan 01; 51(9):760-764. PubMed ID: 16900296
    [Abstract] [Full Text] [Related]

  • 39. 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]

  • 40. Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly.
    Scala I, Titomanlio L, Del Giudice E, Passemard S, Figliuolo C, Annunziata P, Granese B, Scarpato E, Verloes A, Andria G.
    Am J Med Genet A; 2010 Nov 13; 152A(11):2882-5. PubMed ID: 20949544
    [No Abstract] [Full Text] [Related]

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