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Journal Abstract Search

278 related items for PubMed ID: 17120046

  • 1. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
    Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Grüters A, Lenzner S, Jensen LR, Rüschendorf F, Kuss AW, Ropers HH.
    Hum Genet; 2007 Mar; 121(1):43-8. PubMed ID: 17120046
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  • 2. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
    Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H.
    Hum Genet; 2011 Feb; 129(2):141-8. PubMed ID: 21063731
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  • 3. Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.
    Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin-ud-Din M, Feuk L, Vincent JB, Scherer SW.
    Clin Genet; 2010 Nov; 78(5):478-83. PubMed ID: 20345473
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  • 4. 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(1):38-47. PubMed ID: 25434728
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  • 5. Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR.
    Rehman SU, Khan RM, Khan RA, Hassan I, Muhammad N, Arif M.
    J Pak Med Assoc; 2021 Sep; 71(9):2250-2254. PubMed ID: 34580524
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  • 6. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.
    Rehman Su, Baig SM, Eiberg H, Rehman Su, Ahmad I, Malik NA, Tommerup N, Hansen L.
    Neurogenetics; 2011 Aug; 12(3):247-51. PubMed ID: 21643797
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  • 7. A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
    Garshasbi M, Kahrizi K, Hosseini M, Nouri Vahid L, Falah M, Hemmati S, Hu H, Tzschach A, Ropers HH, Najmabadi H, Kuss AW.
    Am J Med Genet A; 2011 Aug; 155A(8):1976-80. PubMed ID: 21739581
    [Abstract] [Full Text] [Related]

  • 8. Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.
    Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A, Giesebrecht S, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Nöthen MM, Schumacher J, Reis A.
    Eur J Hum Genet; 2011 Nov; 19(11):1161-6. PubMed ID: 21629298
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  • 9. 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(4):973-984. PubMed ID: 28397838
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  • 11. [Linkage analysis of six Algerian families with autosomal recessive non specific mental retardation].
    Guessibia N, Sarrai N, Methari N, Ridouh B, Chaabouni Bouhamed H.
    Tunis Med; 2011 May; 89(5):466-70. PubMed ID: 21557185
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  • 15. 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
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  • 17. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
    Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB.
    Am J Hum Genet; 2009 Dec 24; 85(6):909-15. PubMed ID: 20004765
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  • 20. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
    Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW.
    Am J Hum Genet; 2008 May 24; 82(5):1158-64. PubMed ID: 18452889
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