BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

124 related articles for article (PubMed ID: 38926176)

  • 1. 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]  

  • 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. A novel WDR62 mutation causes primary microcephaly in a Pakistani family.
    Memon MM; Raza SI; Basit S; Kousar R; Ahmad W; Ansar M
    Mol Biol Rep; 2013 Jan; 40(1):591-5. PubMed ID: 23065275
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 62(2):299-304. PubMed ID: 27784895
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.
    Naseer MI; Rasool M; Sogaty S; Chaudhary RA; Mansour HM; Chaudhary AG; Abuzenadah AM; Al-Qahtani MH
    Ann Saudi Med; 2017; 37(2):148-153. PubMed ID: 28377545
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 158A(3):622-5. PubMed ID: 22308068
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 11():119. PubMed ID: 21961505
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.
    Khan A; Wang R; Han S; Ahmad W; Zhang X
    Genet Test Mol Biomarkers; 2018 Mar; 22(3):159-164. PubMed ID: 29431480
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes
    Khan NM; Masoud MS; Baig SM; Qasim M; Chang J
    Biomed Res Int; 2022; 2022():3769948. PubMed ID: 35281599
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.
    Aryan H; Zokaei S; Farhud D; Keykhaei M; Ashrafi MR; Rasulinezhad M; Hosseini SMM; Razmara E; Tavasoli AR
    Ir J Med Sci; 2022 Dec; 191(6):2733-2741. PubMed ID: 35031939
    [TBL] [Abstract][Full Text] [Related]  

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

  • 16. Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.
    Bastaki F; Mohamed M; Nair P; Saif F; Tawfiq N; Aithala G; El-Halik M; Al-Ali M; Hamzeh AR
    Congenit Anom (Kyoto); 2016 May; 56(3):135-7. PubMed ID: 26577670
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.
    Nardello R; Fontana A; Antona V; Beninati A; Mangano GD; Stallone MC; Mangano S
    Brain Dev; 2018 Jan; 40(1):58-64. PubMed ID: 28756000
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.
    Mercan S; Akcakaya NH; Salman B; Yapici Z; Ozbek U; Ugur Iseri SA
    Genes Genomics; 2023 Jan; 45(1):13-21. PubMed ID: 36371492
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.