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Journal Abstract Search

201 related items for PubMed ID: 28004384

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

  • 22. A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
    Cherkaoui Jaouad I, Zrhidri A, Jdioui W, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A.
    BMC Med Genet; 2018 Jul 18; 19(1):118. PubMed ID: 30021525
    [Abstract] [Full Text] [Related]

  • 23. CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
    Sukumaran SK, Stumpf M, Salamon S, Ahmad I, Bhattacharya K, Fischer S, Müller R, Altmüller J, Budde B, Thiele H, Tariq M, Malik NA, Nürnberg P, Baig SM, Hussain MS, Noegel AA.
    Mol Genet Genomics; 2017 Apr 18; 292(2):365-383. PubMed ID: 28004182
    [Abstract] [Full Text] [Related]

  • 24. 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 18; 47(12):823-8. PubMed ID: 20978018
    [Abstract] [Full Text] [Related]

  • 25. Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.
    Aslam K, Saeed A, Saeed HI, Bashir R, Abid H, Akhtar R, Habib N, Khan R, Asif R, Rafiq S, Asif M, Makhdoom EUH, Hussain MS, Baig SM, Anjum I.
    Mol Biol Rep; 2024 Jun 26; 51(1):783. PubMed ID: 38926176
    [Abstract] [Full Text] [Related]

  • 26. 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 26; 46(4):249-53. PubMed ID: 19028728
    [Abstract] [Full Text] [Related]

  • 27. Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.
    Kousar R, Nawaz H, Khurshid M, Ali G, Khan SU, Mir H, Ayub M, Wali A, Ali N, Jelani M, Basit S, Ahmad W, Ansar M.
    J Child Neurol; 2010 Jun 26; 25(6):715-20. PubMed ID: 19808985
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.
    Batool T, Irshad S, Mahmood K.
    Braz J Biol; 2021 Apr 15; 83():e246040. PubMed ID: 34378666
    [Abstract] [Full Text] [Related]

  • 30. What primary microcephaly can tell us about brain growth.
    Cox J, Jackson AP, Bond J, Woods CG.
    Trends Mol Med; 2006 Aug 15; 12(8):358-66. PubMed ID: 16829198
    [Abstract] [Full Text] [Related]

  • 31. 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]

  • 32. 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]

  • 33. WDR62 missense mutation in a consanguineous family with primary microcephaly.
    Bacino CA, Arriola LA, Wiszniewska J, Bonnen PE.
    Am J Med Genet A; 2012 Mar 15; 158A(3):622-5. PubMed ID: 22308068
    [Abstract] [Full Text] [Related]

  • 34. Novel and recurrent ASPM mutations of founder effect in Chinese population.
    Li M, Luo J, Yang Q, Chen F, Chen J, Qin J, He W, Chen J, Yi S, Qin Z, Yi S, Huang L, Qiu X, Pan P, Luo J, Shen Y.
    Brain Dev; 2022 Sep 15; 44(8):540-545. PubMed ID: 35491272
    [Abstract] [Full Text] [Related]

  • 35. [Genetic analysis of a child with autosomal recessive primary microcephaly due to variant of ASPM gene and a literature review].
    Wang J, Wang X, Zhang L, Huang Y, Sha R, An J, Wu Y, Guo Z, Jia Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Oct 10; 41(10):1243-1248. PubMed ID: 39344621
    [Abstract] [Full Text] [Related]

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  • 38. Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.
    Ahmed J, Windpassinger C, Salim M, Wiener M, Petek E, Schaflinger E, Taj S, Hussain S, Abbas S, Abbas M, Younis I, Muhammad N, Khan S, Khan MA.
    J Pak Med Assoc; 2019 Dec 10; 69(12):1812-1816. PubMed ID: 31853109
    [Abstract] [Full Text] [Related]

  • 39. 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 10; 80(6):532-40. PubMed ID: 21496009
    [Abstract] [Full Text] [Related]

  • 40. Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability.
    Saima, Khan A, Ali S, Jiang J, Miao Z, Kamil A, Khan SN, Arold ST.
    Neurogenetics; 2024 Jul 10; 25(3):179-191. PubMed ID: 38795246
    [Abstract] [Full Text] [Related]

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