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Journal Abstract Search

143 related items for PubMed ID: 9973295

  • 1. Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.
    Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML.
    Am J Hum Genet; 1999 Feb; 64(2):570-7. PubMed ID: 9973295
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  • 2. Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.
    Oldridge M, Temple IK, Santos HG, Gibbons RJ, Mustafa Z, Chapman KE, Loughlin J, Wilkie AO.
    Am J Hum Genet; 1999 Feb; 64(2):578-85. PubMed ID: 9973296
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  • 12. Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.
    Ullah A, Umair M, Hussain S, Jan A, Ahmad W.
    Pediatr Int; 2018 Mar; 60(3):304-306. PubMed ID: 29436063
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  • 13. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
    Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO.
    Nat Genet; 2000 Mar; 24(3):275-8. PubMed ID: 10700182
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  • 17. [Adermatoglyphia or "immigration delay disease": the role of mutations in the SMARCAD1 gene].
    Dereure O.
    Ann Dermatol Venereol; 2012 Jan; 139(1):75-6. PubMed ID: 22225750
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  • 19. Triphalangeal thumb and split foot in the same family.
    Le Marec B, Odent S, Treguier C.
    Genet Couns; 1990 Jan; 1(3-4):251-8. PubMed ID: 2098049
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  • 20. Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension.
    Toka HR, Bähring S, Chitayat D, Melby JC, Whitehead R, Jeschke E, Wienker TF, Toka O, Schuster H, Luft FC.
    Ann Intern Med; 1998 Aug 01; 129(3):204-8. PubMed ID: 9696728
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