Hall CM - Search Results

1

Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.

Pulleyn LJ, Reardon W, Wilkes D, Rutland P, Jones BM, Hayward R, Hall CM, Brueton L, Chun N, Lammer E, Malcolm S, Winter RM. Pulleyn LJ, et al. Among authors: hall cm. Eur J Hum Genet. 1996;4(5):283-91. doi: 10.1159/000472215. Eur J Hum Genet. 1996. PMID: 8946174

2

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcolm S, Dean JC, Evans RD, Jones BM, Hayward R, Hall CM, Nevin NC, Baraister M, Winter RM. Reardon W, et al. Among authors: hall cm. J Med Genet. 1997 Aug;34(8):632-6. doi: 10.1136/jmg.34.8.632. J Med Genet. 1997. PMID: 9279753 Free PMC article.

3

Two brothers with heart defects and limb shortening: case reports and review.

Reardon W, Hurst J, Farag TI, Hall C, Baraitser M. Reardon W, et al. J Med Genet. 1990 Dec;27(12):746-51. doi: 10.1136/jmg.27.12.746. J Med Genet. 1990. PMID: 2074559 Free PMC article. Review.

4

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.

Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P. Goodman F, et al. Am J Hum Genet. 1998 Oct;63(4):992-1000. doi: 10.1086/302070. Am J Hum Genet. 1998. PMID: 9758628 Free PMC article.

5

New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability.

Reardon W, Hall CM, Shaw DG, Kendall B, Hayward R, Winter RM. Reardon W, et al. Among authors: hall cm. Am J Med Genet. 1994 Oct 1;52(4):432-7. doi: 10.1002/ajmg.1320520408. Am J Med Genet. 1994. PMID: 7747755

6

The feet in Crouzon syndrome.

Anderson PJ, Hall CM, Evans RD, Jones BM, Hayward RD. Anderson PJ, et al. Among authors: hall cm. J Craniofac Genet Dev Biol. 1997 Jan-Mar;17(1):43-7. J Craniofac Genet Dev Biol. 1997. PMID: 9211121

7

The feet in Pfeiffer's syndrome.

Anderson PJ, Hall CM, Evans RD, Jones BM, Hayward RD. Anderson PJ, et al. Among authors: hall cm. J Craniofac Surg. 1998 Jan;9(1):83-7. doi: 10.1097/00001665-199801000-00018. J Craniofac Surg. 1998. PMID: 9558574

8

The elbow in syndromic craniosynostosis.

Anderson PJ, Hall CM, Evans RD, Hayward RD, Jones BM. Anderson PJ, et al. Among authors: hall cm. J Craniofac Surg. 1998 May;9(3):201-6. doi: 10.1097/00001665-199805000-00002. J Craniofac Surg. 1998. PMID: 9693548

9

Alagille syndrome: family studies.

Elmslie FV, Vivian AJ, Gardiner H, Hall C, Mowat AP, Winter RM. Elmslie FV, et al. J Med Genet. 1995 Apr;32(4):264-8. doi: 10.1136/jmg.32.4.264. J Med Genet. 1995. PMID: 7643353 Free PMC article.

10

Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?

Reardon W, Hall CM, Dillon MJ, Baraitser M. Reardon W, et al. Among authors: hall cm. J Med Genet. 1991 Sep;28(9):622-6. doi: 10.1136/jmg.28.9.622. J Med Genet. 1991. PMID: 1956063 Free PMC article.

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