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Items: 1 to 50 of 481

1.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.

Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.

2.

Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.

Maher ER.

World J Urol. 2018 Apr 21. doi: 10.1007/s00345-018-2288-5. [Epub ahead of print] Review.

PMID:
29680948
3.

Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?

Evans DG, Woodward E, Harkness EF, Howell A, Plaskocinska I, Maher ER, Tischkowitz MD, Lalloo F.

J Med Genet. 2018 Jul;55(7):442-448. doi: 10.1136/jmedgenet-2017-105223. Epub 2018 Feb 26.

PMID:
29483236
4.

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

Brioude F, Hennekam R, Bliek J, Coze C, Eggermann T, Ferrero GB, Kratz C, Bouc YL, Maas SM, Mackay DJG, Maher ER, Mussa A, Netchine I.

Eur J Hum Genet. 2018 Apr;26(4):471-472. doi: 10.1038/s41431-017-0074-2. Epub 2018 Feb 15. No abstract available.

PMID:
29449718
5.

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER.

J Med Genet. 2018 Jun;55(6):384-394. doi: 10.1136/jmedgenet-2017-105127. Epub 2018 Jan 31.

6.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER.

Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Review.

PMID:
29377879
7.

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

Casey RT, Warren AY, Martin JE, Challis BG, Rattenberry E, Whitworth J, Andrews KA, Roberts T, Clark GR, West H, Smith PS, Docquier FM, Rodger F, Murray V, Simpson HL, Wallis Y, Giger O, Tran M, Tomkins S, Stewart GD, Park SM, Woodward ER, Maher ER.

J Clin Endocrinol Metab. 2017 Nov 1;102(11):4013-4022. doi: 10.1210/jc.2017-00562. Review.

8.

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.

Innes J, Reali L, Clayton-Smith J, Hall G, Lim DH, Burghel GJ, French K, Khan U, Walker D, Lalloo F, Evans DGR, McMullan D, Maher ER, Woodward ER.

J Med Genet. 2018 Feb;55(2):89-96. doi: 10.1136/jmedgenet-2017-104892. Epub 2017 Sep 16.

PMID:
28918392
9.

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes.

Narasimhan VM, Rahbari R, Scally A, Wuster A, Mason D, Xue Y, Wright J, Trembath RC, Maher ER, van Heel DA, Auton A, Hurles ME, Tyler-Smith C, Durbin R.

Nat Commun. 2017 Aug 21;8(1):303. doi: 10.1038/s41467-017-00323-y.

10.

A case of a metastatic SDHA mutated paraganglioma re-presenting twenty-three years after initial surgery.

Casey RT, Challis BG, Marker A, Pitfield D, Cheow HK, Shaw A, Park SM, Simpson HL, Maher ER.

Endocr Relat Cancer. 2017 Aug;24(8):L69-L71. doi: 10.1530/ERC-17-0206. No abstract available.

11.

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.

Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE.

Clin Cancer Res. 2017 Jul 1;23(13):e115-e122. doi: 10.1158/1078-0432.CCR-17-0710. Review.

12.

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Casey RT, Ascher DB, Rattenberry E, Izatt L, Andrews KA, Simpson HL, Challis B, Park SM, Bulusu VR, Lalloo F, Pires DEV, West H, Clark GR, Smith PS, Whitworth J, Papathomas TG, Taniere P, Savisaar R, Hurst LD, Woodward ER, Maher ER.

Mol Genet Genomic Med. 2017 Mar 2;5(3):237-250. doi: 10.1002/mgg3.279. eCollection 2017 May.

13.

Nomenclature and definition in asymmetric regional body overgrowth.

Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto JA, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC.

Am J Med Genet A. 2017 May 5. doi: 10.1002/ajmg.a.38266. [Epub ahead of print]

PMID:
28475229
14.

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.

Rocha N, Bulger DA, Frontini A, Titheradge H, Gribsholt SB, Knox R, Page M, Harris J, Payne F, Adams C, Sleigh A, Crawford J, Gjesing AP, Bork-Jensen J, Pedersen O, Barroso I, Hansen T, Cox H, Reilly M, Rossor A, Brown RJ, Taylor SI, McHale D, Armstrong M, Oral EA, Saudek V, O'Rahilly S, Maher ER, Richelsen B, Savage DB, Semple RK.

Elife. 2017 Apr 19;6. pii: e23813. doi: 10.7554/eLife.23813.

15.

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.

Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P.

Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13.

16.

PLA2G6-Associated Neurodegeneration.

Gregory A, Kurian MA, Maher ER, Hogarth P, Hayflick SJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Jun 19 [updated 2017 Mar 23].

17.

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.

NGS in PPGL (NGSnPPGL) Study Group, Toledo RA, Burnichon N, Cascon A, Benn DE, Bayley JP, Welander J, Tops CM, Firth H, Dwight T, Ercolino T, Mannelli M, Opocher G, Clifton-Bligh R, Gimm O, Maher ER, Robledo M, Gimenez-Roqueplo AP, Dahia PL.

Nat Rev Endocrinol. 2017 Apr;13(4):233-247. doi: 10.1038/nrendo.2016.185. Epub 2016 Nov 18. Review.

18.

Corrigendum: Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.

Sciacovelli M, Gonçalves E, Johnson TI, Zecchini VR, da Costa AS, Gaude E, Drubbel AV, Theobald SJ, Abbo SR, Tran MG, Rajeeve V, Cardaci S, Foster S, Yun H, Cutillas P, Warren A, Gnanapragasam V, Gottlieb E, Franze K, Huntly B, Maher ER, Maxwell PH, Saez-Rodriguez J, Frezza C.

Nature. 2016 Dec 1;540(7631):150. doi: 10.1038/nature20144. Epub 2016 Oct 19. No abstract available.

PMID:
27760119
19.

Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.

Sciacovelli M, Gonçalves E, Johnson TI, Zecchini VR, da Costa AS, Gaude E, Drubbel AV, Theobald SJ, Abbo SR, Tran MG, Rajeeve V, Cardaci S, Foster S, Yun H, Cutillas P, Warren A, Gnanapragasam V, Gottlieb E, Franze K, Huntly B, Maher ER, Maxwell PH, Saez-Rodriguez J, Frezza C.

Nature. 2016 Aug 31;537(7621):544-547. doi: 10.1038/nature19353. Erratum in: Nature. 2016 Dec 1;540(7631):150.

20.

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, Almaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee VK, Anderson CA, Schoenmakers N.

J Clin Endocrinol Metab. 2016 Dec;101(12):4521-4531. Epub 2016 Aug 15.

21.

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, Elliott PR, McHale D, Maher ER, McKenzie ANJ, Komander D.

Cell. 2016 Aug 25;166(5):1215-1230.e20. doi: 10.1016/j.cell.2016.07.019. Epub 2016 Aug 11.

22.

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.

Maas SM, Vansenne F, Kadouch DJ, Ibrahim A, Bliek J, Hopman S, Mannens MM, Merks JH, Maher ER, Hennekam RC.

Am J Med Genet A. 2016 Sep;170(9):2248-60. doi: 10.1002/ajmg.a.37801. Epub 2016 Jul 15.

PMID:
27419809
23.

Recent Advances in Imprinting Disorders.

Soellner L, Begemann M, Mackay DJ, Grønskov K, Tümer Z, Maher ER, Temple IK, Monk D, Riccio A, Linglart A, Netchine I, Eggermann T.

Clin Genet. 2017 Jan;91(1):3-13. doi: 10.1111/cge.12827. Epub 2016 Aug 4. Review.

PMID:
27363536
24.

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans.

Sanchez-Delgado M, Riccio A, Eggermann T, Maher ER, Lapunzina P, Mackay D, Monk D.

Trends Genet. 2016 Jul;32(7):444-455. doi: 10.1016/j.tig.2016.05.001. Epub 2016 May 24. Review.

PMID:
27235113
25.

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW.

Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601.

26.

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T.

Eur J Hum Genet. 2016 Oct;24(10):1377-87. doi: 10.1038/ejhg.2016.45. Epub 2016 May 11.

27.

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

Nielsen SM, Rhodes L, Blanco I, Chung WK, Eng C, Maher ER, Richard S, Giles RH.

J Clin Oncol. 2016 Jun 20;34(18):2172-81. doi: 10.1200/JCO.2015.65.6140. Epub 2016 Apr 25. Review.

PMID:
27114602
28.

Diagnosis and Management of Hereditary Renal Cell Cancer.

Menko FH, Maher ER.

Recent Results Cancer Res. 2016;205:85-104. doi: 10.1007/978-3-319-29998-3_6.

PMID:
27075350
29.

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Eggermann T, de Nanclares GP, Maher ER, Temple IK, Tümer Z, Monk D, Mackay DJ, Grønskov K, Riccio A, Linglart A, Netchine I.

Clin Epigenetics. 2016 Mar 7;8:27. doi: 10.1186/s13148-016-0194-5. eCollection 2016.

30.

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Smith J, Read ML, Hoffman J, Brown R, Bradshaw B, Campbell C, Cole T, Navas JD, Eatock F, Gundara JS, Lian E, Mcmullan D, Morgan NV, Mulligan L, Morrison PJ, Robledo M, Simpson MA, Smith VE, Stewart S, Trembath RC, Sidhu S, Togneri FS, Wake NC, Wallis Y, Watkinson JC, Maher ER, McCabe CJ, Woodward ER.

Hum Mol Genet. 2016 May 1;25(9):1836-45. doi: 10.1093/hmg/ddw057. Epub 2016 Mar 3.

PMID:
26945007
31.

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S.

J Clin Immunol. 2016 Apr;36(3):336-7. doi: 10.1007/s10875-016-0248-7. No abstract available.

32.

Health and population effects of rare gene knockouts in adult humans with related parents.

Narasimhan VM, Hunt KA, Mason D, Baker CL, Karczewski KJ, Barnes MR, Barnett AH, Bates C, Bellary S, Bockett NA, Giorda K, Griffiths CJ, Hemingway H, Jia Z, Kelly MA, Khawaja HA, Lek M, McCarthy S, McEachan R, O'Donnell-Luria A, Paigen K, Parisinos CA, Sheridan E, Southgate L, Tee L, Thomas M, Xue Y, Schnall-Levin M, Petkov PM, Tyler-Smith C, Maher ER, Trembath RC, MacArthur DG, Wright J, Durbin R, van Heel DA.

Science. 2016 Apr 22;352(6284):474-7. doi: 10.1126/science.aac8624. Epub 2016 Mar 3.

33.

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S.

J Clin Immunol. 2016 Feb;36(2):117-22. doi: 10.1007/s10875-016-0232-2. Epub 2016 Jan 22. Erratum in: J Clin Immunol. 2016 Apr;36(3):336-7.

34.

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

Whitworth J, Skytte AB, Sunde L, Lim DH, Arends MJ, Happerfield L, Frayling IM, van Minkelen R, Woodward ER, Tischkowitz MD, Maher ER.

JAMA Oncol. 2016 Mar;2(3):373-9. doi: 10.1001/jamaoncol.2015.4771. Review.

PMID:
26659639
35.

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Eggermann T, Perez de Nanclares G, Maher ER, Temple IK, Tümer Z, Monk D, Mackay DJ, Grønskov K, Riccio A, Linglart A, Netchine I.

Clin Epigenetics. 2015 Nov 14;7:123. doi: 10.1186/s13148-015-0143-8. eCollection 2015. Review. Erratum in: Clin Epigenetics. 2016;8:27.

36.

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P.

Eur J Hum Genet. 2016 Jun;24(6):784-93. doi: 10.1038/ejhg.2015.224. Epub 2015 Oct 28. Review.

37.

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.

Docherty LE, Rezwan FI, Poole RL, Turner CL, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJ.

Nat Commun. 2015 Sep 1;6:8086. doi: 10.1038/ncomms9086.

38.

Hypoxia, Hypoxia-inducible Transcription Factors, and Renal Cancer.

Schödel J, Grampp S, Maher ER, Moch H, Ratcliffe PJ, Russo P, Mole DR.

Eur Urol. 2016 Apr;69(4):646-657. doi: 10.1016/j.eururo.2015.08.007. Epub 2015 Aug 19. Review.

39.

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study.

Movahedi M, Bishop DT, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans DG, Maher ER, Bertario L, Bisgaard ML, Dunlop MG, Ho JW, Hodgson SV, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar RS, Side L, Scott RJ, Thomas HJ, Vasen HF, Burn J, Mathers JC.

J Clin Oncol. 2015 Nov 1;33(31):3591-7. doi: 10.1200/JCO.2014.58.9952. Epub 2015 Aug 17.

PMID:
26282643
40.

15 YEARS OF PARAGANGLIOMA: Genetics and mechanism of pheochromocytoma-paraganglioma syndromes characterized by germline SDHB and SDHD mutations.

Baysal BE, Maher ER.

Endocr Relat Cancer. 2015 Aug;22(4):T71-82. doi: 10.1530/ERC-15-0226. Epub 2015 Jun 25. Review.

41.

Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.

Luchetti A, Walsh D, Rodger F, Clark G, Martin T, Irving R, Sanna M, Yao M, Robledo M, Neumann HP, Woodward ER, Latif F, Abbs S, Martin H, Maher ER.

Int J Endocrinol. 2015;2015:138573. doi: 10.1155/2015/138573. Epub 2015 Mar 25.

42.

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.

Jafri M, Wake NC, Ascher DB, Pires DE, Gentle D, Morris MR, Rattenberry E, Simpson MA, Trembath RC, Weber A, Woodward ER, Donaldson A, Blundell TL, Latif F, Maher ER.

Cancer Discov. 2015 Jul;5(7):723-9. doi: 10.1158/2159-8290.CD-14-1096. Epub 2015 Apr 14.

43.

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

Bausch B, Wellner U, Peyre M, Boedeker CC, Hes FJ, Anglani M, de Campos JM, Kanno H, Maher ER, Krauss T, Sansó G, Barontini M, Letizia C, Hader C, Schiavi F, Zanoletti E, Suárez C, Offergeld C, Malinoc A, Zschiedrich S, Glasker S, Bobin S, Sterkers O, Ba Huy PT, Giraud S, Links T, Eng C, Opocher G, Richard S, Neumann HP; International Endolymphatic Sac Tumor (ELST) Consortium.

Head Neck. 2016 Apr;38 Suppl 1:E673-9. doi: 10.1002/hed.24067. Epub 2015 Jul 14.

PMID:
25867206
44.

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care.

Eggermann T, Netchine I, Temple IK, Tümer Z, Monk D, Mackay D, Grønskov K, Riccio A, Linglart A, Maher ER.

Clin Epigenetics. 2015 Mar 14;7:23. doi: 10.1186/s13148-015-0050-z. eCollection 2015. Review.

45.

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;10(3):213-20. doi: 10.1080/15592294.2015.1006497.

46.

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
47.

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.

48.

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

McKie AB, Alsaedi 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;2:148. doi: 10.1186/s40478-014-0148-0.

49.

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. 2015;40(3):146-50. doi: 10.3109/07435800.2014.967354. Epub 2014 Oct 20.

PMID:
25328990
50.

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

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