These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 36588751)

  • 1. Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in
    Bolat H; Sağer SG; Türkyılmaz A; Çebi AH; Akın Y; Onay H; Özkınay F; Ünsel-Bolat G
    Mol Syndromol; 2022 Dec; 13(5):363-369. PubMed ID: 36588751
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 8(9):e1408. PubMed ID: 32677750
    [TBL] [Abstract][Full Text] [Related]  

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

  • 4. Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
    Mahmood S; Ahmad W; Hassan MJ
    Orphanet J Rare Dis; 2011 Jun; 6():39. PubMed ID: 21668957
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 51(1):783. PubMed ID: 38926176
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 48(11):2074-2078. PubMed ID: 31970108
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 36(6):391-396. PubMed ID: 27920410
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autosomal recessive primary microcephaly type 2 associated with a novel
    Chen H; Zheng Y; Wu H; Cai N; Xu G; Lin Y; Li JJ
    Front Neurol; 2024; 15():1341864. PubMed ID: 38576530
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 80(6):532-40. PubMed ID: 21496009
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Whole Exome Sequencing Identifies Three Novel Mutations in the
    Naseer MI; Abdulkareem AA; Muthaffar OY; Sogaty S; Alkhatabi H; Almaghrabi S; Chaudhary AG
    Front Pediatr; 2020; 8():627122. PubMed ID: 33643967
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [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; 41(10):1243-1248. PubMed ID: 39344621
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 19(1):118. PubMed ID: 30021525
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 92(1):62-68. PubMed ID: 28004384
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 96(2):383-387. PubMed ID: 28674240
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Updates on Clinical and Genetic Heterogeneity of
    Khan NM; Hussain B; Zheng C; Khan A; Masoud MS; Gu Q; Qiu L; Malik NA; Qasim M; Tariq M; Chang J
    Front Pediatr; 2021; 9():695133. PubMed ID: 34295862
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 7(2):105-10. PubMed ID: 16673149
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 85(4):353-8. PubMed ID: 23611254
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.