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Results: 1 to 20 of 440

1.

Genome-wide DNA methylation profiling of recurrent and non-recurrent chordomas.

Alholle A, Brini AT, Bauer J, Gharanei S, Niada S, Slater A, Gentle D, Maher ER, Jeys L, Grimer R, Sumathi VP, Latif F.

Epigenetics. 2015 Jan 26:0. [Epub ahead of print]

PMID:
25621392
[PubMed - as supplied by publisher]
2.

VHL, the story of a tumour suppressor gene.

Gossage L, Eisen T, Maher ER.

Nat Rev Cancer. 2015 Jan;15(1):55-64. doi: 10.1038/nrc3844. Review.

PMID:
25533676
[PubMed - indexed for MEDLINE]
3.

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.

J Clin Endocrinol Metab. 2015 Mar;100(3):E531-41. doi: 10.1210/jc.2014-3399. Epub 2014 Dec 12.

PMID:
25494863
[PubMed - in process]
4.

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

McKie AB, Al-Saedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER.

Acta Neuropathol Commun. 2014 Dec 5;2(1):148. [Epub ahead of print]

PMID:
25476234
[PubMed - as supplied by publisher]
Free PMC Article
5.

A truncating TPO mutation (Y55X) in patients with hypothyroidism and total iodide organification defect.

Cangul H, Darendeliler F, Saglam Y, Kucukemre B, Kendall M, Boelaert K, Barrett TG, Maher ER.

Endocr Res. 2014 Oct 20:1-5. [Epub ahead of print]

PMID:
25328990
[PubMed - as supplied by publisher]
6.

CDKN1C mutations: two sides of the same coin.

Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M.

Trends Mol Med. 2014 Nov;20(11):614-22. doi: 10.1016/j.molmed.2014.09.001. Epub 2014 Sep 25. Review.

PMID:
25262539
[PubMed - in process]
7.

A clinical and genetic analysis of multiple primary cancer referrals to genetics services.

Whitworth J, Hoffman J, Chapman C, Ong KR, Lalloo F, Evans DG, Maher ER.

Eur J Hum Genet. 2014 Sep 24. doi: 10.1038/ejhg.2014.157. [Epub ahead of print]

PMID:
25248401
[PubMed - as supplied by publisher]
8.

One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism.

Cangül H, Doğan M, Sağlam Y, Kendall M, Boelaert K, Barrett TG, Maher ER.

J Clin Res Pediatr Endocrinol. 2014 Sep 5;6(3):169-73. doi: 10.4274/Jcrpe.1404.

PMID:
25241611
[PubMed - in process]
9.

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.

Gardner JC, Liew G, Quan YH, Ermetal B, Ueyama H, Davidson AE, Schwarz N, Kanuga N, Chana R, Maher ER, Webster AR, Holder GE, Robson AG, Cheetham ME, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle AJ.

Hum Mutat. 2014 Nov;35(11):1354-62. doi: 10.1002/humu.22679.

PMID:
25168334
[PubMed - in process]
Free PMC Article
10.

Phaeochromocytoma and paraganglioma: next-generation sequencing and evolving Mendelian syndromes.

Maher ER.

Clin Med. 2014 Aug;14(4):440-4. doi: 10.7861/clinmedicine.14-4-440. No abstract available.

PMID:
25099851
[PubMed - indexed for MEDLINE]
11.

Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment.

Menko FH, Maher ER, Schmidt LS, Middelton LA, Aittomäki K, Tomlinson I, Richard S, Linehan WM.

Fam Cancer. 2014 Dec;13(4):637-44. doi: 10.1007/s10689-014-9735-2.

PMID:
25012257
[PubMed - in process]
12.

Stability of the CpG island methylator phenotype during glioma progression and identification of methylated loci in secondary glioblastomas.

Hill VK, Shinawi T, Ricketts CJ, Krex D, Schackert G, Bauer J, Wei W, Cruickshank G, Maher ER, Latif F.

BMC Cancer. 2014 Jul 10;14:506. doi: 10.1186/1471-2407-14-506.

PMID:
25012071
[PubMed - in process]
Free PMC Article
13.

Germline FH mutations presenting with pheochromocytoma.

Clark GR, Sciacovelli M, Gaude E, Walsh DM, Kirby G, Simpson MA, Trembath RC, Berg JN, Woodward ER, Kinning E, Morrison PJ, Frezza C, Maher ER.

J Clin Endocrinol Metab. 2014 Oct;99(10):E2046-50. doi: 10.1210/jc.2014-1659. Epub 2014 Jul 8.

PMID:
25004247
[PubMed - indexed for MEDLINE]
14.

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects.

Ibrahim A, Kirby G, Hardy C, Dias RP, Tee L, Lim D, Berg J, MacDonald F, Nightingale P, Maher ER.

Clin Epigenetics. 2014 Jun 4;6(1):11. doi: 10.1186/1868-7083-6-11. eCollection 2014.

PMID:
24982696
[PubMed]
Free PMC Article
15.

Telomerase reverse transcriptase promoter mutations in tumors originating from the adrenal gland and extra-adrenal paraganglia.

Papathomas TG, Oudijk L, Zwarthoff EC, Post E, Duijkers FA, van Noesel MM, Hofland LJ, Pollard PJ, Maher ER, Restuccia DF, Feelders RA, Franssen GJ, Timmers HJ, Sleijfer S, de Herder WW, de Krijger RR, Dinjens WN, Korpershoek E.

Endocr Relat Cancer. 2014 Aug;21(4):653-61. doi: 10.1530/ERC-13-0429. Epub 2014 Jun 20.

PMID:
24951106
[PubMed - indexed for MEDLINE]
16.

A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects.

Cangul H, Bas VN, Saglam Y, Kendall M, Barrett TG, Maher ER, Aycan Z.

J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1101-5. doi: 10.1515/jpem-2014-0025.

PMID:
24945425
[PubMed - indexed for MEDLINE]
17.

BAC chromosomal microarray for prenatal detection of chromosome anomalies in fetal ultrasound anomalies: an economic evaluation.

Hillman SC, Barton PM, Roberts TE, Maher ER, McMullan DM, Kilby MD.

Fetal Diagn Ther. 2014;36(1):49-58. doi: 10.1159/000358387. Epub 2014 Jun 13.

PMID:
24943865
[PubMed - in process]
18.

Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad.

Haller F, Moskalev EA, Faucz FR, Barthelmeß S, Wiemann S, Bieg M, Assie G, Bertherat J, Schaefer IM, Otto C, Rattenberry E, Maher ER, Ströbel P, Werner M, Carney JA, Hartmann A, Stratakis CA, Agaimy A.

Endocr Relat Cancer. 2014 Aug;21(4):567-77. doi: 10.1530/ERC-14-0254. Epub 2014 May 23.

PMID:
24859990
[PubMed - indexed for MEDLINE]
19.

An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis.

Cangul H, Saglam H, Saglam Y, Eren E, Dogan D, Kendall M, Tarim O, Maher ER, Barrett TG.

J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):1021-5. doi: 10.1515/jpem-2014-0048.

PMID:
24859513
[PubMed - in process]
20.

A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism.

Cangul H, Schoenmakers NA, Saglam H, Doganlar D, Saglam Y, Eren E, Kendall M, Tarim O, Barrett TG, Chatterjee K, Maher ER.

J Pediatr Endocrinol Metab. 2014 Jul;27(7-8):731-5. doi: 10.1515/jpem-2014-0011.

PMID:
24690939
[PubMed - in process]
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