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Journal Abstract Search

133 related items for PubMed ID: 14569116

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  • 4. Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
    Faivre L, Mégarbané A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier B, Bacq D, Legeai-Mallet L, Bonaventure J, Munnich A, Cormier-Daire V.
    Hum Genet; 2002 Apr; 110(4):366-70. PubMed ID: 11941487
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  • 6. A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter.
    Higgins JJ, Rosen DR, Loveless JM, Clyman JC, Grau MJ.
    Neurology; 2000 Aug 08; 55(3):335-40. PubMed ID: 10932263
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  • 7. Infantile bilateral striatal necrosis maps to chromosome 19q.
    Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M.
    Neurology; 2004 Jan 13; 62(1):87-90. PubMed ID: 14718703
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  • 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 13; 71(3):212-9. PubMed ID: 17309643
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  • 10. 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 13; 12(3):247-51. PubMed ID: 21643797
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  • 11. 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 13; 27(1):38-47. PubMed ID: 25434728
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  • 12. 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 13; 121(1):43-8. PubMed ID: 17120046
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  • 15. 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 13; 78(5):478-83. PubMed ID: 20345473
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  • 16. Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.
    Fukushima K, Ramesh A, Srisailapathy CR, Ni L, Chen A, O'Neill M, Van Camp G, Coucke P, Smith SD, Kenyon JB.
    Hum Mol Genet; 1995 Sep 13; 4(9):1643-8. PubMed ID: 8541854
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  • 17. A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.
    Hmani-Aifa M, Ben Salem S, Benzina Z, Bouassida W, Messaoud R, Turki K, Khairallah M, Rebaï A, Fakhfekh F, Söderkvist P, Ayadi H.
    Hum Genet; 2009 Oct 13; 126(4):575-87. PubMed ID: 19526372
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