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Journal Abstract Search

133 related items for PubMed ID: 14569116

  • 21.
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  • 23. A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan.
    Ansar M, Din MA, Arshad M, Sohail M, Faiyaz-Ul-Haque M, Haque S, Ahmad W, Leal SM.
    Eur J Hum Genet; 2003 Jan; 11(1):77-80. PubMed ID: 12529709
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  • 24. A gene for Leber's congenital amaurosis maps to chromosome 17p.
    Camuzat A, Dollfus H, Rozet JM, Gerber S, Bonneau D, Bonnemaison M, Briard ML, Dufier JL, Ghazi I, Leowski C.
    Hum Mol Genet; 1995 Aug; 4(8):1447-52. PubMed ID: 7581387
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  • 25. Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome.
    Hadj-Rabia S, Salomon R, Pelet A, Penet C, Rotschild A, de Laët MH, Chaouachi B, Hannachi R, Bakiri F, Brauner R, Chaussain JL, Munnich A, Lyonnet S.
    Eur J Hum Genet; 2000 Aug; 8(8):613-20. PubMed ID: 10951524
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  • 26. A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3.
    Acierno JS, Shagoury JK, Bo-Abbas Y, Crowley WF, Seminara SB.
    J Clin Endocrinol Metab; 2003 Jun; 88(6):2947-50. PubMed ID: 12788910
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  • 27.
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  • 28. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.
    Finckh U, Xu S, Kumaramanickavel G, Schürmann M, Mukkadan JK, Fernandez ST, John S, Weber JL, Denton MJ, Gal A.
    Genomics; 1998 Mar 15; 48(3):341-5. PubMed ID: 9545639
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  • 29. 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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  • 30.
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  • 31. The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.
    Ain Q, Nazli S, Riazuddin S, Jaleel AU, Riazuddin SA, Zafar AU, Khan SN, Husnain T, Griffith AJ, Ahmed ZM, Friedman TB, Riazuddin S.
    Hum Genet; 2007 Dec 22; 122(5):445-50. PubMed ID: 17690910
    [Abstract] [Full Text] [Related]

  • 32. Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.
    Faivre L, Le Merrer M, Al-Gazali LI, Ausems MG, Bitoun P, Bacq D, Maroteaux P, Munnich A, Cormier-Daire V.
    J Med Genet; 2003 Apr 22; 40(4):282-4. PubMed ID: 12676900
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  • 33.
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  • 34. Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy).
    Asaka T, Ikeuchi K, Okino S, Takizawa Y, Satake R, Nitta E, Komai K, Endo K, Higuchi S, Oyake T, Yoshimura T, Suenaga A, Uyama E, Saito T, Konagaya M, Sunohara N, Namba R, Takada H, Honke K, Nishina M, Tanaka H, Shinagawa M, Tanaka K, Matsushima A, Tsuji S, Takamori M.
    J Hum Genet; 2001 Apr 22; 46(11):649-55. PubMed ID: 11721884
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  • 35. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
    Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, Refetoff S.
    J Clin Endocrinol Metab; 1999 Mar 22; 84(3):1061-71. PubMed ID: 10084596
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  • 36. Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins.
    Rogers GR, Rizzo WB, Zlotogorski A, Hashem N, Lee M, Compton JG, Bale SJ.
    Am J Hum Genet; 1995 Nov 22; 57(5):1123-9. PubMed ID: 7485163
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  • 37.
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  • 38. Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
    Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, Dagoneau N, Boute O, Viot G, Mégarbané A, Sefiani A, Munnich A, Le Merrer M, Cormier-Daire V.
    J Med Genet; 2002 Oct 22; 39(10):714-7. PubMed ID: 12362026
    [Abstract] [Full Text] [Related]

  • 39. A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.
    Wali A, John P, Gul A, Lee K, Chishti MS, Ali G, Hassan MJ, Leal SM, Ahmad W.
    Clin Genet; 2006 Sep 22; 70(3):233-9. PubMed ID: 16922726
    [Abstract] [Full Text] [Related]

  • 40. 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 22; 243(4):297-309. PubMed ID: 29269699
    [Abstract] [Full Text] [Related]

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