Spigelman AD - Search Results

1

When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.

Wong-Brown M, McPhillips M, Gleeson M, Spigelman AD, Meldrum CJ, Dooley S, Scott RJ. Wong-Brown M, et al. Among authors: spigelman ad. Hered Cancer Clin Pract. 2016 Feb 16;14:6. doi: 10.1186/s13053-015-0045-y. eCollection 2016. Hered Cancer Clin Pract. 2016. PMID: 26884819 Free PMC article.

2

Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.

Wong-Brown M, McPhillips M, Gleeson M, Spigelman AD, Meldrum CJ, Dooley S, Scott RJ. Wong-Brown M, et al. Among authors: spigelman ad. Hered Cancer Clin Pract. 2022 May 30;20(1):20. doi: 10.1186/s13053-022-00228-y. Hered Cancer Clin Pract. 2022. PMID: 35637507 Free PMC article. No abstract available.

3

Germline Missense Changes in the APC Gene and Their Relationship to Disease.

Scott RJ, Crooks R, Rose L, Attia J, Thakkinstian A, Thomas L, Spigelman AD, Meldrum CJ. Scott RJ, et al. Among authors: spigelman ad. Hered Cancer Clin Pract. 2004 May 15;2(2):81-91. doi: 10.1186/1897-4287-2-2-81. Hered Cancer Clin Pract. 2004. PMID: 20233475 Free PMC article.

4

Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.

Talseth-Palmer BA, Bauer DC, Sjursen W, Evans TJ, McPhillips M, Proietto A, Otton G, Spigelman AD, Scott RJ. Talseth-Palmer BA, et al. Among authors: spigelman ad. Cancer Med. 2016 May;5(5):929-41. doi: 10.1002/cam4.628. Epub 2016 Jan 25. Cancer Med. 2016. PMID: 26811195 Free PMC article.

5

Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.

Kairupan CF, Meldrum CJ, Crooks R, Milward EA, Spigelman AD, Burgess B, Groombridge C, Kirk J, Tucker K, Ward R, Williams R, Scott RJ. Kairupan CF, et al. Among authors: spigelman ad. Int J Cancer. 2005 Aug 10;116(1):73-7. doi: 10.1002/ijc.20983. Int J Cancer. 2005. PMID: 15761860

6

NTHL1-associate polyposis: first Australian case report.

Groves A, Gleeson M, Spigelman AD. Groves A, et al. Among authors: spigelman ad. Fam Cancer. 2019 Apr;18(2):179-182. doi: 10.1007/s10689-018-0107-1. Fam Cancer. 2019. PMID: 30859360

7

Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients.

Scott RJ, Crooks R, Meldrum CJ, Thomas L, Smith CJ, Mowat D, McPhillips M, Spigelman AD. Scott RJ, et al. Among authors: spigelman ad. Clin Genet. 2002 Oct;62(4):282-7. doi: 10.1034/j.1399-0004.2002.620405.x. Clin Genet. 2002. PMID: 12372054

8

Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations.

Thompson E, Meldrum CJ, Crooks R, McPhillips M, Thomas L, Spigelman AD, Scott RJ. Thompson E, et al. Among authors: spigelman ad. Clin Genet. 2004 Mar;65(3):215-25. doi: 10.1111/j.1399-0004.2004.00214.x. Clin Genet. 2004. PMID: 14756672

9

Low-level parental mosaicism in an apparent de novo case of Peutz-Jeghers syndrome.

Butel-Simoes GI, Spigelman AD, Scott RJ, Vilain RE. Butel-Simoes GI, et al. Among authors: spigelman ad. Fam Cancer. 2019 Jan;18(1):109-112. doi: 10.1007/s10689-018-0093-3. Fam Cancer. 2019. PMID: 29948449

10

Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds.

Scott RJ, McPhillips M, Meldrum CJ, Fitzgerald PE, Adams K, Spigelman AD, du Sart D, Tucker K, Kirk J. Scott RJ, et al. Among authors: spigelman ad. Am J Hum Genet. 2001 Jan;68(1):118-127. doi: 10.1086/316942. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112663 Free PMC 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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

177 results

Search Page

Filters