Rutland P - Search Results

1

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ. McGregor L, et al. Among authors: rutland p. Nat Genet. 2003 Jun;34(2):203-8. doi: 10.1038/ng1142. Nat Genet. 2003. PMID: 12766769

2

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Reardon W, et al. Among authors: rutland p. Nat Genet. 1994 Sep;8(1):98-103. doi: 10.1038/ng0994-98. Nat Genet. 1994. PMID: 7987400

3

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, et al. Rutland P, et al. Nat Genet. 1995 Feb;9(2):173-6. doi: 10.1038/ng0295-173. Nat Genet. 1995. PMID: 7719345

4

Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.

Strautnieks S, Rutland P, Winter RM, Baraitser M, Malcolm S. Strautnieks S, et al. Among authors: rutland p. Am J Hum Genet. 1992 Oct;51(4):871-8. Am J Hum Genet. 1992. PMID: 1384324 Free PMC article.

5

A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.

Wilkes D, Rutland P, Pulleyn LJ, Reardon W, Moss C, Ellis JP, Winter RM, Malcolm S. Wilkes D, et al. Among authors: rutland p. J Med Genet. 1996 Sep;33(9):744-8. doi: 10.1136/jmg.33.9.744. J Med Genet. 1996. PMID: 8880573 Free PMC article.

6

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: rutland p. Eur J Hum Genet. 1996;4(5):283-91. doi: 10.1159/000472215. Eur J Hum Genet. 1996. PMID: 8946174

7

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

Oldridge M, Wilkie AO, Slaney SF, Poole MD, Pulleyn LJ, Rutland P, Hockley AD, Wake MJ, Goldin JH, Winter RM, et al. Oldridge M, et al. Among authors: rutland p. Hum Mol Genet. 1995 Jun;4(6):1077-82. doi: 10.1093/hmg/4.6.1077. Hum Mol Genet. 1995. PMID: 7655462

8

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: rutland p. 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.

9

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B. Bitner-Glindzicz M, et al. Among authors: rutland p. Nat Genet. 2000 Sep;26(1):56-60. doi: 10.1038/79178. Nat Genet. 2000. PMID: 10973248

10

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, et al. Wilkie AO, et al. Among authors: rutland p. Nat Genet. 1995 Feb;9(2):165-72. doi: 10.1038/ng0295-165. Nat Genet. 1995. PMID: 7719344

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