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508 related items for PubMed ID: 33710595

  • 1. Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.
    Rasool IG, Zahoor MY, Iqbal M, Anjum AA, Ashraf F, Abbas HQ, Baig HMA, Mahmood T, Shehzad W.
    Genes Genomics; 2021 May; 43(5):503-512. PubMed ID: 33710595
    [Abstract] [Full Text] [Related]

  • 2. Description of novel variants in consanguineous Pakistani families affected with intellectual disability.
    Rasool IG, Zahoor MY, Ahmed I, Iqbal M, Shafqat S, Anjum AA, Shehzad W.
    Genes Genomics; 2023 Apr; 45(4):457-465. PubMed ID: 35150401
    [Abstract] [Full Text] [Related]

  • 3. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
    Ilyas M, Efthymiou S, Salpietro V, Noureen N, Zafar F, Rauf S, Mir A, Houlden H.
    BMC Med Genet; 2020 Mar 24; 21(1):59. PubMed ID: 32209057
    [Abstract] [Full Text] [Related]

  • 4. Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.
    Asif M, Anayat M, Tariq F, Noureen T, Din GNU, Becker C, Becker K, Thiele H, Makhdoom EUH, Shaiq PA, Baig SM, Nürnberg P, Hussain MS, Raja GK, Abdullah U.
    Genes (Basel); 2022 Dec 23; 14(1):. PubMed ID: 36672789
    [Abstract] [Full Text] [Related]

  • 5. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
    Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MAR, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ, UK10K, Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer APM, van Bokhoven H, Riazuddin S.
    Mol Psychiatry; 2017 Nov 23; 22(11):1604-1614. PubMed ID: 27457812
    [Abstract] [Full Text] [Related]

  • 6. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A.
    Am J Med Genet A; 2016 Jul 23; 170(7):1772-9. PubMed ID: 27108886
    [Abstract] [Full Text] [Related]

  • 7. Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.
    Yousefipour F, Mozhdehipanah H, Mahjoubi F.
    Mol Genet Genomic Med; 2021 Dec 23; 9(12):e1610. PubMed ID: 33513295
    [Abstract] [Full Text] [Related]

  • 8. Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
    Moudi M, Vahidi Mehrjardi MY, Hozhabri H, Metanat Z, Kalantar SM, Taheri M, Ghasemi N, Dehghani M.
    J Clin Lab Anal; 2022 Feb 23; 36(2):e24241. PubMed ID: 35019165
    [Abstract] [Full Text] [Related]

  • 9. Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families.
    Ahmed I, Muzammal M, Khan MA, Ullah H, Farid A, Yasin M, Khan J, Alam K, Mir A.
    Biochem Genet; 2024 Aug 23; 62(4):2571-2586. PubMed ID: 37985543
    [Abstract] [Full Text] [Related]

  • 10. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
    Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, Sheikh TI, Noor A, Mahmood H, Downey S, Johnson M, Vleuten K, Bell L, Ilyas M, Khan FS, Khan V, Moradi M, Ayaz M, Naeem F, Heidari A, Ahmed I, Ghadami S, Agha Z, Zeinali S, Qamar R, Mozhdehipanah H, John P, Mir A, Ansar M, French L, Ayub M, Vincent JB.
    Mol Psychiatry; 2018 Apr 23; 23(4):973-984. PubMed ID: 28397838
    [Abstract] [Full Text] [Related]

  • 11. The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.
    Davarniya B, Hu H, Kahrizi K, Musante L, Fattahi Z, Hosseini M, Maqsoud F, Farajollahi R, Wienker TF, Ropers HH, Najmabadi H.
    PLoS One; 2015 Apr 23; 10(8):e0129631. PubMed ID: 26308914
    [Abstract] [Full Text] [Related]

  • 12. Exome sequencing identifies novel and known mutations in families with intellectual disability.
    Rasheed M, Khan V, Harripaul R, Siddiqui M, Malik MA, Ullah Z, Zahid M, Vincent JB, Ansar M.
    BMC Med Genomics; 2021 Aug 27; 14(1):211. PubMed ID: 34452636
    [Abstract] [Full Text] [Related]

  • 13. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
    Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S.
    J Med Genet; 2016 Feb 27; 53(2):138-44. PubMed ID: 26566883
    [Abstract] [Full Text] [Related]

  • 14. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
    Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM.
    Hum Genet; 2018 Sep 27; 137(9):735-752. PubMed ID: 30167849
    [Abstract] [Full Text] [Related]

  • 15. A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.
    Sheereen A, Alaamery M, Bawazeer S, Al Yafee Y, Massadeh S, Eyaid W.
    J Med Genet; 2017 Apr 27; 54(4):236-240. PubMed ID: 28143899
    [Abstract] [Full Text] [Related]

  • 16. Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
    Kharrat M, Triki C, Ben Isaa A, Bouchaala W, Alila O, Chouchen J, Ghouliya Y, Kamoun F, Tlili A, Fakhfakh F.
    J Hum Genet; 2024 Jul 27; 69(7):291-299. PubMed ID: 38467738
    [Abstract] [Full Text] [Related]

  • 17. Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.
    Ahmed I, Rafiq MA, Vincent JB, Bhatti A, Ayub M, John P.
    Acta Neuropsychiatr; 2015 Feb 27; 27(1):38-47. PubMed ID: 25434728
    [Abstract] [Full Text] [Related]

  • 18. Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
    Ben Ayed I, Bouchaala W, Bouzid A, Feki W, Souissi A, Ben Nsir S, Ben Said M, Sammouda T, Majdoub F, Kharrat I, Kamoun F, Elloumi I, Kamoun H, Tlili A, Masmoudi S, Triki C.
    Eur J Med Genet; 2021 Dec 27; 64(12):104373. PubMed ID: 34737153
    [Abstract] [Full Text] [Related]

  • 19. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
    Binaafar S, Razmara E, Mahdieh N, Sahebjame H, Tavasoli AR, Garshasbi M.
    Eur J Med Genet; 2020 May 27; 63(5):103853. PubMed ID: 31978613
    [Abstract] [Full Text] [Related]

  • 20. The PTRHD1 Mutation in Intellectual Disability.
    Cheraghi S, Moghbelinejad S, Najmabadi H, Kahrizi K, Najafipour R.
    Arch Iran Med; 2021 Oct 01; 24(10):747-751. PubMed ID: 34816696
    [Abstract] [Full Text] [Related]

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