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REFERENCES

  • Armour CM, McCready ME, Baig A, Hunter AGW, Bulman DE. 2002. A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. J Med Genet 39: 186189.
  • Bell J. 1951. On brachydactyly and symphalangism. In: Penrose LS, editor. Treasury of human inheritance. Cambridge, UK: University Press; pp. 131.
  • Bulman DE, Racacho L, Byrnes AM, Dranse H, Underhill TM, Allanson J, Nikkel SM. 2009. Mutations in GDF5 and its receptor BMPR1B cause Brachydactyly type A1. 59th Annual Meeting ASHG, Honolulu, Hawaii, USA.
  • Byrnes AM, Racacho L, Grimsey A, Hudgins L, Kwan AC, Sangalli M, Kidd A, Yaron Y, Lau YL, Nikkel SM, Bulman DE. 2009. Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog. Eur J Hum Genet 17: 11121120.
  • Drinkwater H. 1915. A second brachydactylous family. J Genet 4: 323348.
  • Farabee WC. 1903. Hereditary and sexual influence in meristic variation: A study of digital malformations in man. Ph D Thesis, Harvard University.
  • Fitch N. 1979. Classification and identification of inherited brachydactylies. J Med Genet 16: 3644.
  • Gao B, Guo J, She C, Shu A, Yang M, Tan Z, Yang X, Guo S, Feng G, He L. 2001. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nat Genet 28: 386388.
  • Gao B, Hu J, Stricker Cheung M, Ma G, Law KF, Witte F, Briscoe J, Mundlos S, He L, Cheah KS, Chan D. 2009. A mutation in Ihh that causes digit abnormalities alters its signaling capacity and range. Nature 458: 11962000.
  • Haws DV, McKusick VA. 1963. Farabee's brachydactyly kindred revisited. Bull Johns Hopkins Hosp 113: 2030.
  • Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GR. 2003. Homozygous mutations in the IHH gene cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. Am J Hum Genet 72: 10401046.
  • Kirkpatrick TJ, Au KS, Mastrobattista JM, McCready ME, Bulman DE, Northrup H. 2003. Identification of a mutation in the Indian hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. J Med Genet 40: 4244.
  • Lai LP, Mitchell JK. 2005. Indian hedgehog: Its roles and regulation in endochondral bone development. J Cell Biochem 96: 11631173.
  • Lodder EM, Hoogeboom AJ, Coert JH, de Graaff E. 2008. Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1. Am J Med Genet Part A 146A: 21522154.
  • McCready ME, Sweeney E, Fryer AE, Donnai D, Baig A, Racacho L, Warman ML, Hunter AG, Bulman DE. 2002. A novel mutation in the IHH gene causes brachydactyly type A1: A 95-year-old mystery resolved. Hum Genet 111: 368375.
  • Mundlos S. 2009. The brachydactylies: A molecular disease family. Clin Genet 76: 123136.
  • Nissen KI. 1932. A study in inherited brachydactyly. Ann Eugen 5: 281.
  • Raff ML, Leppig KA, Rutledge JC, Weinberger E, Pagon RA. 1998. Brachydactyly type A1 with abnormal menisci and scoliosis in three generations. Clin Dysmorphol 7: 2934.
  • Slavotinek A, Donnai D. D 1998. A boy with severe manifestations of type A1 brachydactyly. Clin Dysmorphol 7: 2127.
  • Stattin EL, Linden B, Lönnerholm T, Schuster J, Dahl N. 2009. Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene. Eur J Med Genet 52: 297302.
  • St-Jacques B, Hammerschmidt M, McMahon AP. 1999. Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation. Genes Dev 13: 20722086.
  • Temtamy S, McKusick V. 1978. Brachydactyly as an isolated malformation. In: Bersma D, editor. The genetics of hands malformations. New York: Alan R. Liss. BDOAS, XIV 3, pp. 187225.
  • Yang X, She C, Guo J, Yu ACH, Lu Y, Shi X, Feng G, He L. 2000. A locus for brachydactyly type A-1 maps to chromosome 2q35-q36. Am J Hum Genet 66: 892903.