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Journal Abstract Search

166 related items for PubMed ID: 11941487

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  • 2. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.
    Diaz GA, Khan KT, Gelb BD.
    Genomics; 1998 Nov 15; 54(1):13-8. PubMed ID: 9806825
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  • 3. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.
    Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V.
    J Med Genet; 2003 Jan 15; 40(1):34-6. PubMed ID: 12525539
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  • 6. Weill Marchesani syndrome with chronic angle closure glaucoma in Ethiopia: a case report.
    Tenkir A, Bekele S, Solomon B.
    Ethiop Med J; 2009 Jan 15; 47(1):81-3. PubMed ID: 19743786
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  • 9. A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.
    Yi H, Zha X, Zhu Y, Lv J, Hu S, Kong Y, Wu G, Yang Y, He Y.
    J Hum Genet; 2019 Jul 15; 64(7):681-687. PubMed ID: 31019231
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  • 13. The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1.
    Bahabri SA, Suwairi WM, Laxer RM, Polinkovsky A, Dalaan AA, Warman ML.
    Arthritis Rheum; 1998 Apr 15; 41(4):730-5. PubMed ID: 9550484
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  • 16. 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 15; 40(10):729-32. PubMed ID: 14569116
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