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162 related items for PubMed ID: 21643797

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

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

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

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

  • 5. 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
    [Abstract] [Full Text] [Related]

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

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
    Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M.
    Am J Hum Genet; 2008 Apr; 82(4):1011-8. PubMed ID: 18387594
    [Abstract] [Full Text] [Related]

  • 9. A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3.
    Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies H, Becker C, Nürnberg P, Başaran S, Apak MY, Wollnik B.
    Clin Genet; 2007 Mar; 71(3):212-9. PubMed ID: 17309643
    [Abstract] [Full Text] [Related]

  • 10. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
    Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H.
    Hum Genet; 2006 Feb; 118(6):708-15. PubMed ID: 16311745
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan.
    Ansar M, Ramzan M, Pham TL, Yan K, Jamal SM, Haque S, Ahmad W, Leal SM.
    Hum Hered; 2003 Aug; 55(1):71-4. PubMed ID: 12890929
    [Abstract] [Full Text] [Related]

  • 13. Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.
    Irshad S, Santos RL, Muhammad D, Lee K, McArthur N, Haque S, Ahmad W, Leal SM.
    Clin Genet; 2005 Sep; 68(3):262-7. PubMed ID: 16098016
    [Abstract] [Full Text] [Related]

  • 14. A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p.
    Naz S, Riazuddin SA, Li L, Shahid M, Kousar S, Sieving PA, Hejtmancik JF, Riazuddin S.
    Am J Ophthalmol; 2010 May; 149(5):861-6. PubMed ID: 20227676
    [Abstract] [Full Text] [Related]

  • 15. Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.
    Tlili A, Masmoudi S, Dhouib H, Bouaziz S, Rebeh IB, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H.
    Ann Hum Genet; 2007 Mar; 71(Pt 2):271-5. PubMed ID: 17166180
    [Abstract] [Full Text] [Related]

  • 16. Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.
    Veske A, Oehlmann R, Younus F, Mohyuddin A, Müller-Myhsok B, Mehdi SQ, Gal A.
    Hum Mol Genet; 1996 Jan; 5(1):165-8. PubMed ID: 8789456
    [Abstract] [Full Text] [Related]

  • 17. Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
    Mir A, Sritharan K, Mittal K, Vasli N, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB.
    Hum Genet; 2014 Aug; 133(8):975-84. PubMed ID: 24623383
    [Abstract] [Full Text] [Related]

  • 18. Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity.
    Basel-Vanagaite L, Alkelai A, Straussberg R, Magal N, Inbar D, Mahajna M, Shohat M.
    J Med Genet; 2003 Oct; 40(10):729-32. PubMed ID: 14569116
    [Abstract] [Full Text] [Related]

  • 19. Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3.
    John P, Ali G, Chishti MS, Naqvi SM, Leal SM, Ahmad W.
    Hum Genet; 2006 Jan; 118(5):665-7. PubMed ID: 16273389
    [Abstract] [Full Text] [Related]

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