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Journal Abstract Search

131 related items for PubMed ID: 39344621

  • 1. [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
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  • 2. Microcephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family.
    Tran TH, Diep QM, Cao MH, Luong LH, Pham VA, Lan Dinh OT, Bui TH, Van Ta T, Tran VK.
    Taiwan J Obstet Gynecol; 2021 Sep 10; 60(5):907-910. PubMed ID: 34507672
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  • 4. [Diagnosis and counseling for a Chinese pedigree affected with autosomal recessive primary microcephaly 5 due to variants of ASPM gene].
    Zhang Y, Zeng L, Lin L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr 10; 39(4):405-408. PubMed ID: 35446976
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  • 7. 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 10; 149A(5):926-30. PubMed ID: 19353628
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  • 10. 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
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  • 13. A Novel Frameshift Mutation in Abnormal Spindle-Like Microcephaly (ASPM) Gene in an Iranian Patient with Primary Microcephaly: A Case Report.
    Bazgir A, Agha Gholizadeh M, Sarvar F, Pakzad Z.
    Iran J Public Health; 2019 Nov 22; 48(11):2074-2078. PubMed ID: 31970108
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  • 14. 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 22; 25(6):715-20. PubMed ID: 19808985
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  • 16. 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 22; 96(2):383-387. PubMed ID: 28674240
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  • 18. [Genetic analysis of a child with restricted cardiomyopathy and phenylketonuria and a literature review].
    Wang F, Xiao M, Sun Q, Jia L, Lyu A, Yao X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug 10; 40(8):990-997. PubMed ID: 37532500
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