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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

347 related items for PubMed ID: 32677750

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
    Khan NM, Masoud MS, Baig SM, Qasim M, Chang J.
    Biomed Res Int; 2022 Jul; 2022():3769948. PubMed ID: 35281599
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
    Mahmood S, Ahmad W, Hassan MJ.
    Orphanet J Rare Dis; 2011 Jun 13; 6():39. PubMed ID: 21668957
    [Abstract] [Full Text] [Related]

  • 8. 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 13; 22(3):159-164. PubMed ID: 29431480
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Autosomal recessive primary microcephalies (MCPH).
    Kaindl AM.
    Eur J Paediatr Neurol; 2014 Jul 26; 18(4):547-8. PubMed ID: 24780602
    [Abstract] [Full Text] [Related]

  • 11. 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 26; 36(4):351-5. PubMed ID: 23726037
    [Abstract] [Full Text] [Related]

  • 12. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.
    Kumar A, Girimaji SC, Duvvari MR, Blanton SH.
    Am J Hum Genet; 2009 Feb 26; 84(2):286-90. PubMed ID: 19215732
    [Abstract] [Full Text] [Related]

  • 13. Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
    Makhdoom EUH, Waseem SS, Iqbal M, Abdullah U, Hussain G, Asif M, Budde B, Höhne W, Tinschert S, Saadi SM, Yousaf H, Ali Z, Fatima A, Kaygusuz E, Khan A, Jameel M, Khan S, Tariq M, Anjum I, Altmüller J, Thiele H, Höning S, Baig SM, Nürnberg P, Hussain MS.
    Genes (Basel); 2021 May 13; 12(5):. PubMed ID: 34068194
    [Abstract] [Full Text] [Related]

  • 14. 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 13; 47(12):823-8. PubMed ID: 20978018
    [Abstract] [Full Text] [Related]

  • 15. Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families.
    Makhdoom EUH, Anwar H, Baig SM, Hussain G.
    Pak J Med Sci; 2022 Dec 13; 38(1):84-89. PubMed ID: 35035405
    [Abstract] [Full Text] [Related]

  • 16. 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 13; 69(6):2296-2303. PubMed ID: 34826358
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 8():58. PubMed ID: 17764569
    [Abstract] [Full Text] [Related]

  • 18. Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.
    Batool T, Irshad S, Mahmood K.
    Braz J Biol; 2021 Sep 01; 83():e246040. PubMed ID: 34378666
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 62(2):299-304. PubMed ID: 27784895
    [Abstract] [Full Text] [Related]

  • 20.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Verloes A, Drunat S, Gressens P, Passemard S.
    ; 1993 Feb 01. PubMed ID: 20301772
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 18.