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188 related items for PubMed ID: 34452636

  • 1. 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]

  • 2. 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 27; 23(4):973-984. PubMed ID: 28397838
    [Abstract] [Full Text] [Related]

  • 3. 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 27; 22(11):1604-1614. PubMed ID: 27457812
    [Abstract] [Full Text] [Related]

  • 4. 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 27; 43(5):503-512. PubMed ID: 33710595
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 24; 27(1):38-47. PubMed ID: 25434728
    [Abstract] [Full Text] [Related]

  • 7. Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.
    Lindholm Carlström E, Halvardson J, Etemadikhah M, Wetterberg L, Gustavson KH, Feuk L.
    BMC Med Genomics; 2019 Nov 06; 12(1):156. PubMed ID: 31694657
    [Abstract] [Full Text] [Related]

  • 8. 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 06; 170(7):1772-9. PubMed ID: 27108886
    [Abstract] [Full Text] [Related]

  • 9. Genetics of intellectual disability in consanguineous families.
    Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Najmabadi H.
    Mol Psychiatry; 2019 Jul 06; 24(7):1027-1039. PubMed ID: 29302074
    [Abstract] [Full Text] [Related]

  • 10. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
    Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K.
    Eur J Med Genet; 2020 Jan 06; 63(1):103610. PubMed ID: 30602132
    [Abstract] [Full Text] [Related]

  • 11. Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan.
    Froukh TJ.
    Tohoku J Exp Med; 2017 Dec 06; 243(4):297-309. PubMed ID: 29269699
    [Abstract] [Full Text] [Related]

  • 12. Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
    Agha Z, Iqbal Z, Azam M, Ayub H, Vissers LE, Gilissen C, Ali SH, Riaz M, Veltman JA, Pfundt R, van Bokhoven H, Qamar R.
    PLoS One; 2014 Dec 06; 9(11):e112687. PubMed ID: 25405613
    [Abstract] [Full Text] [Related]

  • 13. Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.
    Hussain SI, Muhammad N, Shah SA, Rehman AU, Khan SA, Saleha S, Khan YM, Muhammad N, Khan S, Wasif N.
    BMC Med Genomics; 2024 Jul 02; 17(1):176. PubMed ID: 38956580
    [Abstract] [Full Text] [Related]

  • 14. 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 02; 36(2):e24241. PubMed ID: 35019165
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
    Philips AK, Pinelli M, de Bie CI, Mustonen A, Määttä T, Arts HH, Wu K, Roepman R, Moilanen JS, Raza S, Varilo T, Scala G, Cocozza S, Gilissen C, van Gassen KL, Järvelä I.
    Clin Genet; 2017 Jan 23; 91(1):100-105. PubMed ID: 27311568
    [Abstract] [Full Text] [Related]

  • 17. Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
    Mir A, Song Y, Lee H, Khanahmad H, Khorram E, Nasiri J, Tabatabaiefar MA.
    BMC Med Genomics; 2023 Oct 11; 16(1):239. PubMed ID: 37821930
    [Abstract] [Full Text] [Related]

  • 18. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
    Järvelä I, Määttä T, Acharya A, Leppälä J, Jhangiani SN, Arvio M, Siren A, Kankuri-Tammilehto M, Kokkonen H, Palomäki M, Varilo T, Fang M, Hadley TD, Jolly A, Linnankivi T, Paetau R, Saarela A, Kälviäinen R, Olme J, Nouel-Saied LM, Cornejo-Sanchez DM, Llaci L, Lupski JR, Posey JE, Leal SM, Schrauwen I.
    Hum Genet; 2021 Jul 11; 140(7):1011-1029. PubMed ID: 33710394
    [Abstract] [Full Text] [Related]

  • 19. The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.
    Wang J, Wang Y, Wang L, Chen WY, Sheng M.
    BMC Med Genomics; 2020 May 19; 13(1):70. PubMed ID: 32429945
    [Abstract] [Full Text] [Related]

  • 20. 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 19; 137(9):735-752. PubMed ID: 30167849
    [Abstract] [Full Text] [Related]

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