Search Page
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
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 1 |
2013 | 2 |
2014 | 2 |
2015 | 1 |
2017 | 1 |
2024 | 0 |
Search Results
6 results
Results by year
Filters applied: . Clear all
Page 1
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
Rattenberry E, Vialard L, Yeung A, Bair H, McKay K, Jafri M, Canham N, Cole TR, Denes J, Hodgson SV, Irving R, Izatt L, Korbonits M, Kumar AV, Lalloo F, Morrison PJ, Woodward ER, Macdonald F, Wallis Y, Maher ER.
Rattenberry E, et al.
J Clin Endocrinol Metab. 2013 Jul;98(7):E1248-56. doi: 10.1210/jc.2013-1319. Epub 2013 May 10.
J Clin Endocrinol Metab. 2013.
PMID: 23666964
Item in Clipboard
Germline SDHC mutation presenting as recurrent SDH deficient GIST and renal carcinoma.
Gill AJ, Lipton L, Taylor J, Benn DE, Richardson AL, Frydenberg M, Shapiro J, Clifton-Bligh RJ, Chow CW, Bogwitz M.
Gill AJ, et al.
Pathology. 2013 Dec;45(7):689-91. doi: 10.1097/PAT.0000000000000018.
Pathology. 2013.
PMID: 24150194
No abstract available.
Item in Clipboard
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.
Dénes J, Swords F, Rattenberry E, Stals K, Owens M, Cranston T, Xekouki P, Moran L, Kumar A, Wassif C, Fersht N, Baldeweg SE, Morris D, Lightman S, Agha A, Rees A, Grieve J, Powell M, Boguszewski CL, Dutta P, Thakker RV, Srirangalingam U, Thompson CJ, Druce M, Higham C, Davis J, Eeles R, Stevenson M, O'Sullivan B, Taniere P, Skordilis K, Gabrovska P, Barlier A, Webb SM, Aulinas A, Drake WM, Bevan JS, Preda C, Dalantaeva N, Ribeiro-Oliveira A Jr, Garcia IT, Yordanova G, Iotova V, Evanson J, Grossman AB, Trouillas J, Ellard S, Stratakis CA, Maher ER, Roncaroli F, Korbonits M.
Dénes J, et al.
J Clin Endocrinol Metab. 2015 Mar;100(3):E531-41. doi: 10.1210/jc.2014-3399. Epub 2014 Dec 12.
J Clin Endocrinol Metab. 2015.
PMID: 25494863
Free PMC article.
Item in Clipboard
A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma.
Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N, Boussion M, Travers C, Simian C, Burnichon N, Abermil N, Favier J, Jeunemaitre X, Gimenez-Roqueplo AP.
Buffet A, et al.
Horm Metab Res. 2012 May;44(5):359-66. doi: 10.1055/s-0032-1304594. Epub 2012 Apr 19.
Horm Metab Res. 2012.
PMID: 22517557
Review.
Item in Clipboard
The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).
Else T, Marvin ML, Everett JN, Gruber SB, Arts HA, Stoffel EM, Auchus RJ, Raymond VM.
Else T, et al.
J Clin Endocrinol Metab. 2014 Aug;99(8):E1482-6. doi: 10.1210/jc.2013-3853. Epub 2014 Apr 23.
J Clin Endocrinol Metab. 2014.
PMID: 24758179
Free PMC article.
Item in Clipboard
Cite
Cite