Brueton L - Search Results

1

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.

Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L. Aldred MA, et al. Among authors: brueton l. Am J Med Genet. 2002 Nov 22;113(2):167-72. doi: 10.1002/ajmg.10751. Am J Med Genet. 2002. PMID: 12407707

2

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes.

Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RC, Eng C, Dennis NR, Trembath RC. Aldred MA, et al. Among authors: brueton la. J Med Genet. 2004 Jun;41(6):433-9. doi: 10.1136/jmg.2003.017202. J Med Genet. 2004. PMID: 15173228 Free PMC article. No abstract available.

3

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER. Morgan NV, et al. Among authors: brueton la. Am J Hum Genet. 2006 Aug;79(2):390-5. doi: 10.1086/506256. Epub 2006 Jun 20. Am J Hum Genet. 2006. PMID: 16826531 Free PMC article.

4

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER. Meyer E, et al. Among authors: brueton l. Mol Genet Metab. 2011 Dec;104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8. Mol Genet Metab. 2011. PMID: 21959080

5

A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.

Feldman GJ, Robin NH, Brueton LA, Robertson E, Thompson EM, Siegel-Bartelt J, Gasser DL, Bailey LC, Zackai EH, Muenke M. Feldman GJ, et al. Among authors: brueton la. Am J Hum Genet. 1995 Apr;56(4):938-43. Am J Hum Genet. 1995. PMID: 7717404 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: brueton l. Eur J Hum Genet. 1996;4(5):283-91. doi: 10.1159/000472215. Eur J Hum Genet. 1996. PMID: 8946174

7

Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion.

Titheradge H, Togneri F, McMullan D, Brueton L, Lim D, Williams D. Titheradge H, et al. Among authors: brueton l. Am J Med Genet A. 2014 Jul;164A(7):1695-701. doi: 10.1002/ajmg.a.36540. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715413

8

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Scambler PJ, et al. Ryan AK, et al. Among authors: brueton l. J Med Genet. 1997 Oct;34(10):798-804. doi: 10.1136/jmg.34.10.798. J Med Genet. 1997. PMID: 9350810 Free PMC article.

9

Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism.

Brady AF, Waters CS, Pocha MJ, Brueton LA. Brady AF, et al. Among authors: brueton la. Clin Genet. 2000 Aug;58(2):142-6. doi: 10.1034/j.1399-0004.2000.580209.x. Clin Genet. 2000. PMID: 11005148

10

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

Gibbons RJ, Brueton L, Buckle VJ, Burn J, Clayton-Smith J, Davison BC, Gardner RJ, Homfray T, Kearney L, Kingston HM, et al. Gibbons RJ, et al. Among authors: brueton l. Am J Med Genet. 1995 Jan 30;55(3):288-99. doi: 10.1002/ajmg.1320550309. Am J Med Genet. 1995. PMID: 7726225 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

91 results

Search Page

Filters