PubMed (OMIM) for id: 767360

Year	Number of Results
1963	1
1976	1
1989	1
1994	3
1996	3
1997	3
1999	1
2001	2
2002	3
2005	1
2024	0

1

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Plöger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S. Seemann P, et al. J Clin Invest. 2005 Sep;115(9):2373-81. doi: 10.1172/JCI25118. Epub 2005 Aug 25. J Clin Invest. 2005. PMID: 16127465 Free PMC article.

2

Inherited brachydactyly and hypoplasia of the bones of the extremities.

HAWS DV. HAWS DV. Ann Hum Genet. 1963 Feb;26:201-12. doi: 10.1111/j.1469-1809.1963.tb01976.x. Ann Hum Genet. 1963. PMID: 13953230 No abstract available.

3

The mutational spectrum of brachydactyly type C.

Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono JR, Savarirayan R, White SM, Graham JM Jr, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman ML. Everman DB, et al. Am J Med Genet. 2002 Oct 15;112(3):291-6. doi: 10.1002/ajmg.10777. Am J Med Genet. 2002. PMID: 12357473

4

Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.

Faiyaz-Ul-Haque M, Ahmad W, Wahab A, Haque S, Azim AC, Zaidi SH, Teebi AS, Ahmad M, Cohn DH, Siddique T, Tsui LC. Faiyaz-Ul-Haque M, et al. Am J Med Genet. 2002 Jul 22;111(1):31-7. doi: 10.1002/ajmg.10501. Am J Med Genet. 2002. PMID: 12124730 Review.

5

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, Haque S, Teebi AS, Ahmad M, Cohn DH, Tsui LC. Faiyaz-Ul-Haque M, et al. Clin Genet. 2002 Jun;61(6):454-8. doi: 10.1034/j.1399-0004.2002.610610.x. Clin Genet. 2002. PMID: 12121354

6

A CD14-independent LPS receptor cluster.

Triantafilou K, Triantafilou M, Dedrick RL. Triantafilou K, et al. Nat Immunol. 2001 Apr;2(4):338-45. doi: 10.1038/86342. Nat Immunol. 2001. PMID: 11276205

7

Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone.

Galjaard RJ, van der Ham LI, Posch NA, Dijkstra PF, Oostra BA, Hovius SE, Timmenga EJ, Sonneveld GJ, Hoogeboom AJ, Heutink P. Galjaard RJ, et al. Am J Med Genet. 2001 Jan 22;98(3):256-62. doi: 10.1002/1096-8628(20010122)98:3<256::aid-ajmg1088>3.0.co;2-d. Am J Med Genet. 2001. PMID: 11169564

8

Role of CDMP-1 in skeletal morphogenesis: promotion of mesenchymal cell recruitment and chondrocyte differentiation.

Tsumaki N, Tanaka K, Arikawa-Hirasawa E, Nakase T, Kimura T, Thomas JT, Ochi T, Luyten FP, Yamada Y. Tsumaki N, et al. J Cell Biol. 1999 Jan 11;144(1):161-73. doi: 10.1083/jcb.144.1.161. J Cell Biol. 1999. PMID: 9885252 Free PMC article.

9

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.

Thomas JT, Kilpatrick MW, Lin K, Erlacher L, Lembessis P, Costa T, Tsipouras P, Luyten FP. Thomas JT, et al. Nat Genet. 1997 Sep;17(1):58-64. doi: 10.1038/ng0997-58. Nat Genet. 1997. PMID: 9288098

10

Mutations in CDMP1 cause autosomal dominant brachydactyly type C.

Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML. Polinkovsky A, et al. Nat Genet. 1997 Sep;17(1):18-9. doi: 10.1038/ng0997-18. Nat Genet. 1997. PMID: 9288091 Free article. No abstract available.

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