Mort M - Search Results

1

APC transcription studies and molecular diagnosis of familial adenomatous polyposis.

Short E, Thomas LE, Davies A, Bolton A, Maynard J, Giles P, Mort M, Consoli C, Egner I, Jundi H, Sampson JR. Short E, et al. Among authors: mort m. Eur J Hum Genet. 2020 Jan;28(1):118-121. doi: 10.1038/s41431-019-0486-2. Epub 2019 Aug 5. Eur J Hum Genet. 2020. PMID: 31383941 Free PMC article.

2

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

Thomas L, Spurlock G, Eudall C, Thomas NS, Mort M, Hamby SE, Chuzhanova N, Brems H, Legius E, Cooper DN, Upadhyaya M. Thomas L, et al. Among authors: mort m. Eur J Hum Genet. 2012 Apr;20(4):411-9. doi: 10.1038/ejhg.2011.207. Epub 2011 Nov 23. Eur J Hum Genet. 2012. PMID: 22108604 Free PMC article.

3

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

Thomas L, Richards M, Mort M, Dunlop E, Cooper DN, Upadhyaya M. Thomas L, et al. Among authors: mort m. Hum Mutat. 2012 Dec;33(12):1687-96. doi: 10.1002/humu.22162. Epub 2012 Aug 6. Hum Mutat. 2012. PMID: 22807134

4

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.

Winston J, Duerden L, Mort M, Frayling IM, Rogers MT, Upadhyaya M. Winston J, et al. Among authors: mort m. Eur J Hum Genet. 2015 Jan;23(1):67-71. doi: 10.1038/ejhg.2014.58. Epub 2014 Apr 23. Eur J Hum Genet. 2015. PMID: 24755953 Free PMC article.

5

Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours.

Thomas LE, Winston J, Rad E, Mort M, Dodd KM, Tee AR, McDyer F, Moore S, Cooper DN, Upadhyaya M. Thomas LE, et al. Among authors: mort m. Hum Genomics. 2015 Feb 15;9(1):3. doi: 10.1186/s40246-015-0025-3. Hum Genomics. 2015. PMID: 25884485 Free PMC article.

6

Improving the in silico assessment of pathogenicity for compensated variants.

Azevedo L, Mort M, Costa AC, Silva RM, Quelhas D, Amorim A, Cooper DN. Azevedo L, et al. Among authors: mort m. Eur J Hum Genet. 2016 Jan;25(1):2-7. doi: 10.1038/ejhg.2016.129. Epub 2016 Oct 5. Eur J Hum Genet. 2016. PMID: 27703146 Free PMC article.

7

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN. Stenson PD, et al. Among authors: mort m. Hum Genet. 2017 Jun;136(6):665-677. doi: 10.1007/s00439-017-1779-6. Epub 2017 Mar 27. Hum Genet. 2017. PMID: 28349240 Free PMC article. Review.

8

regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution.

Zhang X, Li M, Lin H, Rao X, Feng W, Yang Y, Mort M, Cooper DN, Wang Y, Wang Y, Wells C, Zhou Y, Liu Y. Zhang X, et al. Among authors: mort m. Hum Genet. 2017 Sep;136(9):1279-1289. doi: 10.1007/s00439-017-1783-x. Epub 2017 Apr 8. Hum Genet. 2017. PMID: 28391525 Free PMC article.

9

Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis.

Thomas LE, Hurley JJ, Meuser E, Jose S, Ashelford KE, Mort M, Idziaszczyk S, Maynard J, Brito HL, Harry M, Walters A, Raja M, Walton SJ, Dolwani S, Williams GT, Morgan M, Moorghen M, Clark SK, Sampson JR. Thomas LE, et al. Among authors: mort m. Clin Cancer Res. 2017 Nov 1;23(21):6721-6732. doi: 10.1158/1078-0432.CCR-17-1269. Epub 2017 Aug 8. Clin Cancer Res. 2017. PMID: 28790112

10

The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis.

Hurley JJ, Thomas LE, Walton SJ, Thomas-Gibson S, Haycock A, Suzuki N, Mort M, Williams G, Morgan M, Clark SK, Sampson JR, Dolwani S. Hurley JJ, et al. Among authors: mort m. Gastrointest Endosc. 2018 Oct;88(4):665-673. doi: 10.1016/j.gie.2018.04.2347. Epub 2018 Apr 24. Gastrointest Endosc. 2018. PMID: 29702101 Free article.

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

165 results

Search Page