Bourn D - Search Results

1

CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas.

Dubois A, Wilson V, Bourn D, Rajan N. Dubois A, et al. Among authors: bourn d. PLoS Curr. 2015 Feb 19;7:ecurrents.eogt.45c4e63dd43d62e12228cc5264d6a0db. doi: 10.1371/currents.eogt.45c4e63dd43d62e12228cc5264d6a0db. PLoS Curr. 2015. PMID: 25737804 Free PMC article.

2

Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.

Schirwani S, Novelli A, Digilio MC, Bourn D, Wilson V, Roberts C, Dallapiccola B, Hobson E. Schirwani S, et al. Among authors: bourn d. Eur J Med Genet. 2019 Apr;62(4):243-247. doi: 10.1016/j.ejmg.2018.07.022. Epub 2018 Jul 23. Eur J Med Genet. 2019. PMID: 30048822

3

Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission.

Arefi M, Wilson V, Muthiah S, Zwolinski S, Bajwa D, Brennan P, Blasdale K, Bourn D, Burn J, Santibanez-Koref M, Rajan N. Arefi M, et al. Among authors: bourn d. J Am Acad Dermatol. 2019 Dec;81(6):1300-1307. doi: 10.1016/j.jaad.2019.05.021. Epub 2019 May 11. J Am Acad Dermatol. 2019. PMID: 31085270 Free PMC article.

4

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

Venables JP, Strain L, Routledge D, Bourn D, Powell HM, Warwicker P, Diaz-Torres ML, Sampson A, Mead P, Webb M, Pirson Y, Jackson MS, Hughes A, Wood KM, Goodship JA, Goodship TH. Venables JP, et al. Among authors: bourn d. PLoS Med. 2006 Oct;3(10):e431. doi: 10.1371/journal.pmed.0030431. PLoS Med. 2006. PMID: 17076561 Free PMC article.

5

Utility of genetic testing in suspected familial cranial diabetes insipidus.

Srinivasan R, Ball S, Ward-Platt M, Bourn D, McAnulty C, Cheetham T. Srinivasan R, et al. Among authors: bourn d. Endocrinol Diabetes Metab Case Rep. 2013;2013:130068. doi: 10.1530/EDM-13-0068. Epub 2013 Oct 21. Endocrinol Diabetes Metab Case Rep. 2013. PMID: 24616780 Free PMC article.

6

Eleven novel mutations in the NF2 tumour suppressor gene.

Bourn D, Evans G, Mason S, Tekes S, Trueman L, Strachan T. Bourn D, et al. Hum Genet. 1995 May;95(5):572-4. doi: 10.1007/BF00223872. Hum Genet. 1995. PMID: 7759081

7

Highly polymorphic dinucleotide repeat at the NF2 gene.

Bourn D, Strachan T. Bourn D, et al. Hum Genet. 1995 Jun;95(6):712. doi: 10.1007/BF00209494. Hum Genet. 1995. PMID: 7789960

8

A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.

Bourn D, Carter SA, Evans DG, Goodship J, Coakham H, Strachan T. Bourn D, et al. Am J Hum Genet. 1994 Jul;55(1):69-73. Am J Hum Genet. 1994. PMID: 8023853 Free PMC article.

9

Thirst perception and arginine vasopressin production in a kindred with an activating mutation of the type 2 vasopressin receptor: the pathophysiology of nephrogenic syndrome of inappropriate antidiuresis.

Gupta S, Cheetham TD, Lambert HJ, Roberts C, Bourn D, Coulthard MG, Ball SG. Gupta S, et al. Among authors: bourn d. Eur J Endocrinol. 2009 Sep;161(3):503-8. doi: 10.1530/EJE-09-0246. Epub 2009 Jun 19. Eur J Endocrinol. 2009. PMID: 19542240

10

Pilot of BRAF mutation analysis in indeterminate, suspicious and malignant thyroid FNA cytology.

Johnson SJ, Hardy SA, Roberts C, Bourn D, Mallick U, Perros P. Johnson SJ, et al. Among authors: bourn d. Cytopathology. 2014 Jun;25(3):146-54. doi: 10.1111/cyt.12125. Epub 2014 Jan 12. Cytopathology. 2014. PMID: 24417615

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