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 *

226 related articles for article (PubMed ID: 35035405)

  • 1. Whole exome sequencing identifies a novel mutation in
    Makhdoom EUH; Anwar H; Baig SM; Hussain G
    Pak J Med Sci; 2022; 38(1):84-89. PubMed ID: 35035405
    [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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.
    Abdullah U; Farooq M; Mang Y; Marriam Bakhtiar S; Fatima A; Hansen L; Kjaer KW; Larsen LA; Faryal S; Tommerup N; Mahmood Baig S
    Eur J Med Genet; 2017 Dec; 60(12):627-630. PubMed ID: 28778786
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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; 26(1):37-42. PubMed ID: 35089071
    [No Abstract]   [Full Text] [Related]  

  • 13. Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
    Hussain S; Nawaz A; Hamid M; Ullah W; Khan IN; Afshan M; Rehman A; Nawaz H; Halswick J; Rehman SU; Ahmad S; Muzammal M; Muhammad N; Jan A; Khan S; Windpassinger C; Khan MA
    Biotechnol Appl Biochem; 2022 Dec; 69(6):2296-2303. PubMed ID: 34826358
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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; 25(3):179-191. PubMed ID: 38795246
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 8():58. PubMed ID: 17764569
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 46(4):249-53. PubMed ID: 19028728
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 149A(5):926-30. PubMed ID: 19353628
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.
    Sarli A; Al Sudani ZM; Vaghefi F; Motallebi F; Khosravi T; Rezaie N; Oladnabi M
    Mol Biol Rep; 2024 Jan; 51(1):181. PubMed ID: 38252227
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 12.