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Journal Abstract Search

278 related items for PubMed ID: 17120046

  • 21. 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; 36(2):e24241. PubMed ID: 35019165
    [Abstract] [Full Text] [Related]

  • 22. 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; 243(4):297-309. PubMed ID: 29269699
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  • 24. Fine mapping of MRT9 locus through genome wide homozygosity mapping in a consanguineous Pakistani family.
    Rehman SU, Baig SM, Hasen L, Ahmad I, Khan RA, Hussa M.
    J Pak Med Assoc; 2019 Dec; 69(12):1903-1906. PubMed ID: 31853126
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  • 26. 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; 24(7):1027-1039. PubMed ID: 29302074
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  • 28. 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 Jul; 10(8):e0129631. PubMed ID: 26308914
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  • 29. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.
    Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur-E-Kamal M, Reis A, Bayoumi R.
    Am J Hum Genet; 1999 Dec; 65(6):1666-71. PubMed ID: 10577920
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  • 31. A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
    Khan MA, Rafiq MA, Noor A, Ali N, Ali G, Vincent JB, Ansar M.
    BMC Med Genet; 2011 Apr 22; 12():56. PubMed ID: 21513506
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  • 32. Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.
    Gandin I, Faletra F, Faletra F, Carella M, Pecile V, Ferrero GB, Biamino E, Palumbo P, Palumbo O, Bosco P, Romano C, Belcaro C, Vozzi D, d'Adamo AP.
    Genet Med; 2015 May 22; 17(5):396-9. PubMed ID: 25232855
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  • 33. A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
    Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G.
    Eur J Med Genet; 2012 Dec 22; 55(12):727-31. PubMed ID: 22989526
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  • 34. Homozygosity mapping in outbred families with mental retardation.
    Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Pfundt R, van Bon BW, de Leeuw N, Kleefstra T, Willemsen MA, van Kessel AG, Brunner HG, Veltman JA, van Bokhoven H, de Brouwer AP, de Vries BB.
    Eur J Hum Genet; 2011 May 22; 19(5):597-601. PubMed ID: 21248743
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  • 35. Effect of inbreeding on intellectual disability revisited by trio sequencing.
    Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, Jamali P, Falahat Chian M, Nikuei P, Sabbagh Kermani F, Sadeghinia F, Jazayeri R, Tonekaboni SH, Khoshaeen A, Habibi H, Pourfatemi F, Mojahedi F, Khodaie-Ardakani MR, Najafipour R, Wienker TF, Najmabadi H, Ropers HH.
    Clin Genet; 2019 Jan 22; 95(1):151-159. PubMed ID: 30315573
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  • 36. 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 22; 137(9):735-752. PubMed ID: 30167849
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  • 39. Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
    Beheshtian M, Fattahi Z, Fadaee M, Vazehan R, Jamali P, Parsimehr E, Kamgar M, Zonooz MF, Mahdavi SS, Kalhor Z, Arzhangi S, Abedini SS, Kermani FS, Mojahedi F, Kalscheuer VM, Ropers HH, Kariminejad A, Najmabadi H, Kahrizi K.
    Clin Genet; 2019 Jun 22; 95(6):718-725. PubMed ID: 30950035
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