Eamonn R Maher

Eamonn R Maher

UNVERIFIED PROFILE

Are you Eamonn R Maher?   Register this Author

Register author
Eamonn R Maher

Eamonn R Maher

Publications by authors named "Eamonn R Maher"

Are you Eamonn R Maher?   Register this Author

99Publications

3506Reads

10Profile Views

MethylCal: Bayesian calibration of methylation levels.

Nucleic Acids Res 2019 Aug;47(14):e81

Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gkz325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698668PMC
August 2019

Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers.

Clin Endocrinol (Oxf) 2019 Apr 29;90(4):499-505. Epub 2019 Jan 29.

Department of Diabetes and Endocrinology, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cen.13926DOI Listing
April 2019

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.

Nat Rev Genet 2019 04;20(4):235-248

Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', Caserta; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' CNR, Napoli, Italy.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41576-018-0092-0
Publisher Site
http://dx.doi.org/10.1038/s41576-018-0092-0DOI Listing
April 2019

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

Authors:
Eamonn R Maher

World J Urol 2018 Dec 21;36(12):1891-1898. Epub 2018 Apr 21.

Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Cancer Centre, Cambridge, CB2 0QQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00345-018-2288-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280834PMC
December 2018

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

J Med Genet 2018 Jul 26;55(7):442-448. Epub 2018 Feb 26.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2017-105223DOI Listing
July 2018

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

J Med Genet 2018 02 16;55(2):89-96. Epub 2017 Sep 16.

Manchester Centre for Genomic Medicine, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

View Article

Download full-text PDF

Source
http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2017-104892
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2017-104892DOI Listing
February 2018

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

Endocr Relat Cancer 2017 08;24(8):L69-L71

Department of Medical GeneticsUniversity of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, UK.

View Article

Download full-text PDF

Source
https://erc.bioscientifica.com/view/journals/erc/24/8/ERC-17
Publisher Site
http://dx.doi.org/10.1530/ERC-17-0206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5527372PMC
August 2017

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

Nat Rev Endocrinol 2017 04 18;13(4):233-247. Epub 2016 Nov 18.

Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), 7703 Floyd Curl Drive, MC7880, San Antonio, Texas 78229, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrendo.2016.185DOI Listing
April 2017

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

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

University of Cambridge Metabolic Research Laboratories (A.K.N., E.S., G.L., V.K.K.C., N.S.), Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom; Department of Human Genetics (E.G.S., C.A.A.), The Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom; Research Centre for Regenerative and Restorative Medicine (H.C.), Department of Medical Genetics Istanbul Medipol University, Kavacık, Istanbul, Turkey; Pediatric Endocrine Unit (S.A., I.U.), Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman; Paediatric Endocrinology Department (A.D.), Mafraq Hospital, AbuDhabi, United Arab Emirates; Pediatric Department Prince Mohamed Bin Abdulaziz Hospital (A.M.H.), Madinah, Kingdom of Saudi Arabia; Department of Paediatrics (M.A.), Madina Maternity & Children's Hospital Madina Munawara, Saudi Arabia; 8. Department of Endocrinology (C.P.), Great Ormond St Hospital for Children, London, United Kingdom; Department of Paediatrics (N.N.), Luton and Dunstable University Hospital, Luton, United Kingdom; Division of Paediatric Endocrinology (Z.A.), Dr Sami Ulus Woman Health and Children Research Hospital Ankara, Turkey; Department of Paediatric Endocrinology (H.S.), Uludağ University, School of Medicine Bursa, Turkey; Department of Paediatric Endocrinology (E.B.), Dokuz Eylül University, Faculty of Medicine Izmir, Turkey; Developmental Endocrinology Research Group (M.D.), Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, University College London Institute of Child Health, London, United Kingdom; Department of Paediatrics (S.S.), Leicester Royal infirmary, Leicester United Kingdom; Centre for Paediatrics and Child Health (P.G.M.), Institute of Human Development University of Manchester, and Royal Manchester Children's Hospital, Manchester, United Kingdom; Paediatric Endocrinology Division (A.B.), College of Medicine, King Saud University and King Saud University Medical City, Riyadh, Saudi Arabia; Department of Paediatrics (R.W., A.T.), University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; W Midlands Regional Genetics Laboratory (R.I.), Birmingham Women's Hospital NHS Foundation Trust, Birmingham, United Kingdom; Department of Paediatric Endocrinology (R.P.), Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom; Department of Paediatrics (K.T.), Diana Princess of Wales Hospital, Grimsby, United Kingdom; Department of Paediatric Endocrinology (J.H.D.), University Hospital Southampton, Southampton, United Kingdom; Department of Paediatrics (V.P.), Peterborough and Stamford Hospitals NHS Foundation Trust, Peterborough, United Kingdom; Department of Clinical Genetics (S.-M.P.), Cambridge University Hospitals NHS Foundation Trust, Cambridge United Kingdom; London N W Healthcare NHS Trust (A.F.M.), Harrow, Middlesex, United Kingdom; Division of Population Medicine (J.W.G.), School of Medicine, Cardiff University, Heath Park Cardiff, UK; Department of Paediatric Endocrinology (A.A.), St George's University Hospitals NHS Foundation Trust, London, United Kingdom; Centre for Endocrinology (E.P.-G.), William Harvey Research Institute, Queen Mary University London and Children's Hospital, Barts Health NHS Trust, London, United Kingdom; Department of Medical Genetics (H.M., K.B., E.R.M.), University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2016-1879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155683PMC
December 2016

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

Am J Med Genet A 2016 09 15;170(9):2248-60. Epub 2016 Jul 15.

Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37801DOI Listing
September 2016

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

Cell 2016 Aug 11;166(5):1215-1230.e20. Epub 2016 Aug 11.

Medical Research Council Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge Biomedical Campus, Cambridge CB2 0QH, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cell.2016.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002269PMC
August 2016

Diagnosis and Management of Hereditary Renal Cell Cancer.

Recent Results Cancer Res 2016 ;205:85-104

Department of Medical Genetics, University of Cambridge, Cambridge, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-3-319-29998-3_6DOI Listing
July 2016

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

Trends Genet 2016 07 24;32(7):444-455. Epub 2016 May 24.

Imprinting and Cancer group, Cancer Epigenetic and Biology Program, Institut d'Investigació Biomedica de Bellvitge, Hospital Duran i Reynals, Barcelona, Spain. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tig.2016.05.001DOI Listing
July 2016

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

J Clin Oncol 2016 06 25;34(18):2172-81. Epub 2016 Apr 25.

Sarah M. Nielsen and Lindsay Rhodes, The University of Chicago, Chicago, IL; Ignacio Blanco, Hospital Universitari Germans Trias i Pujol, UAB - Universitat Autònoma de Barcelona, Barcelona, Spain; Wendy K. Chung, Columbia University, New York, NY; Charis Eng, Cleveland Clinic; Charis Eng, Case Western Reserve University School of Medicine, Cleveland, OH; Eamonn R. Maher, University of Cambridge and Cambridge NIHR Biomedical Research Centre, Cambridge, United Kingdom; Stéphane Richard, Réseau National pour Cancers Rares de l'Adulte PREDIR, INCa/AP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre; Stéphane Richard, INSERM U1186, Gustave Roussy Cancer Campus, Villejuif, France; Rachel H. Giles, University Medical Center Utrecht, Regenerative Medicine Center Utrecht, Utrecht; and Rachel H. Giles, Dutch VHL Patient Organization, Gouda, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1200/JCO.2015.65.6140DOI Listing
June 2016

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

Hum Mol Genet 2016 05 3;25(9):1836-45. Epub 2016 Mar 3.

Centre for Rare Diseases and Personalised Medicine, West Midlands Regional Genetics Service, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddw057DOI Listing
May 2016

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

Endocr Res 2015 20;40(3):146-50. Epub 2014 Oct 20.

Department of Medical Genetics, Bahcesehir University School of Medicine , Istanbul , Turkey .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/07435800.2014.967354DOI Listing
April 2016

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

Eur Urol 2016 Apr 19;69(4):646-657. Epub 2015 Aug 19.

Henry Wellcome Building for Molecular Physiology, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eururo.2015.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5012644PMC
April 2016

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

JAMA Oncol 2016 Mar;2(3):373-9

Department of Medical Genetics, University of Cambridge and Cambridge NIHR Biomedical Research Centre, Cambridge, England.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaoncol.2015.4771DOI Listing
March 2016

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

Clin Epigenetics 2016 7;8:27. Epub 2016 Mar 7.

Endocrinology and diabetology for children and reference center for rare disorders of calcium and phosphorus metabolism, Bicêtre Paris Sud, APHP, Le Kremlin-Bicêtre, France ; INSERM U986, INSERM, Le Kremlin-Bicêtre, France ; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012 France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13148-016-0194-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782320PMC
March 2016

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

J Clin Oncol 2015 Nov 17;33(31):3591-7. Epub 2015 Aug 17.

Mohammad Movahedi, Beheshti University of Medical Sciences, Tehran, Iran; Mohammad Movahedi and D. Timothy Bishop, University of Leeds, Leeds; Diana Eccles, University of Southampton, Southampton; D. Gareth Evans, St Mary's Hospital, Manchester; Eamonn R. Maher, University of Birmingham, Birmingham; Malcolm G. Dunlop, Western General Hospital, Edinburgh; Shirley V. Hodgson, St George's Hospital; Lucy Side, University College London; Huw J.W. Thomas, St Mark's Hospital, Imperial College, London; Patrick J. Morrison, Queens University Belfast, Belfast City Hospital Health and Social Care Trust, Belfast; Victoria Murday, Yorkhill Hospital, Glasgow; John Burn and John C. Mathers, Newcastle University, Newcastle upon Tyne, United Kingdom; Finlay Macrae, Royal Melbourne Hospital, Melbourne, Victoria; Rodney J. Scott, John Hunter Hospital, New Lambton, New South Wales, Australia; Jukka-Pekka Mecklin, Jyväskylä Central Hospital, Jyväskylä, Finland; Gabriela Moeslein, HELIOS St Josefs Hospital, Bochum-Linden, Germany; Sylviane Olschwang, Institut Paoli Calmettes, Marseille, France; Lucio Bertario, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milan, Italy; Marie-Luise Bisgaard, University of Copenhagen, Hvidovre, Denmark; Judy W.C. Ho, Queen Mary Hospital, Hong Kong, Special Administrative Region, People's Republic of China; Annika Lindblom, Karolinska Institutet, Stockholm, Sweden; Jan Lubinski, International Hereditary Cancer Centre, Szczecin, Poland; Raj S. Ramesar, University of Cape Town, South Africa; and Hans F. Vasen, Netherlands Foundation of the Detection of Hereditary Tumours and Leiden University, Leiden, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1200/JCO.2014.58.9952DOI Listing
November 2015

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

Clin Epigenetics 2015 14;7:123. Epub 2015 Nov 14.

Endocrinology and diabetology for children and reference center for rare disorders of calcium and phosphorus metabolism, Bicêtre Paris Sud, APHP, Le Kremlin-Bicêtre, France ; INSERM U986, INSERM, Le Kremlin-Bicêtre, France ; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012 France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13148-015-0143-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650860PMC
November 2015

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

Endocr Relat Cancer 2015 Aug 25;22(4):T71-82. Epub 2015 Jun 25.

Department of PathologyRoswell Park Cancer Institute, Buffalo, New York 14263, USADepartment of Medical GeneticsCambridge NIHR Biomedical Research Centre, University of Cambridge, Cambridge CB2 0QQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/ERC-15-0226DOI Listing
August 2015

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

Cancer Discov 2015 Jul 14;5(7):723-9. Epub 2015 Apr 14.

Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom. Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1158/2159-8290.CD-14-1096DOI Listing
July 2015

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

Eur J Hum Genet 2015 May 24;23(5):581-7. Epub 2014 Sep 24.

1] Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK [2] Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402633PMC
May 2015

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

Int J Endocrinol 2015 25;2015:138573. Epub 2015 Mar 25.

Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK ; Cambridge NIHR Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK ; Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham B15 2TT, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2015/138573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390106PMC
April 2015

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

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

School of Clinical and Experimental Medicine, College of Medicine and Dentistry, Birmingham, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000358387DOI Listing
March 2015

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

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

Department of Endocrinology (J.D., U.S., M.D., P.G., W.M.D., M.K.), Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, United Kingdom; Semmelweis University, School of PhD studies, Doctoral School of Clinical Medicine, Budapest, Hungary (J.D.), Endocrinology Directorate (F.S.), Norfolk and Norwich University Hospital, Norwich NR4 7UZ, United Kingdom; Department of Medical and Molecular Genetics (E.R., E.R.M.), University of Birmingham, Birmingham B15 2TT, United Kingdom; Department of Molecular Genetics (K.S., M.O., S.E.), Royal Devon and Exeter National Health Service Foundation Trust, Exeter EX2 5DW, United Kingdom; University of Exeter Medical School (S.E.), Exeter EX4 4PY, United Kingdom; Oxford Medical Genetics Laboratories (T.C.), Oxford University Hospitals National Health Service Trust, The Churchill Hospital, Oxford OX3 7LJ, United Kingdom; Section on Endocrinology and Genetics (P.X., C.A.S.) and Section on Molecular Dysmorphology (C.W.), Eunice Kennedy Shriver Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; Electron Microscopy Unit (L.M.), Department Histopathology, Charing Cross Hospital, Imperial College Healthcare National Health Service Trust, London W6 8RF, United Kingdom; Department of Clinical Genetics (A.K.), Great Ormond Street Hospital, London WC1N 1LE, United Kingdom; Departments of Oncology (N.F.) and Endocrinology (S.E.B.), University College London Hospitals, London WC1E 6BT, United Kingdom; Department of Diabetes and Endocrinology (D.M.), The Ipswich Hospital National Health Service Trust, Ipswich IP4 5PD, United Kingdom; Henry Wellcome Laboratories for Integrative Neuroscience and Endocrinology (S.L.), University of Bristol, Bristol BS1 3NY, United Kingdom; Department of Endocrinology (A.Ag., C.J.T.), Beaumont Hospital, Dublin 9, Ireland; Institute of Molecular and Experimental Medicine (A.R.), Cardiff University, Cardiff CF10 3US, United Kingd

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2014-3399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333031PMC
March 2015

VHL, the story of a tumour suppressor gene.

Nat Rev Cancer 2015 Jan;15(1):55-64

1] Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK. [2] Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Box 238, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrc3844DOI Listing
January 2015

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

Acta Neuropathol Commun 2014 Dec 5;2:148. Epub 2014 Dec 5.

Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40478-014-0148-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271450PMC
December 2014

CDKN1C mutations: two sides of the same coin.

Trends Mol Med 2014 Nov 25;20(11):614-22. Epub 2014 Sep 25.

Institute of Human Genetics, University Hospital, Technical University Aachen, Aachen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.molmed.2014.09.001DOI Listing
November 2014

Germline FH mutations presenting with pheochromocytoma.

J Clin Endocrinol Metab 2014 Oct 8;99(10):E2046-50. Epub 2014 Jul 8.

Department of Medical Genetics (G.R.C., E.R.M.), University of Cambridge and National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, United Kingdom; Medical Research Council (MRC) Cancer Unit (M.S., E.G., C.F.), University of Cambridge, Hutchison/MRC Research Centre, Cambridge CB2 0XZ, United Kingdom; Centre for Rare Diseases and Personalized Medicine (D.M.W., G.K., E.R.W.), University of Birmingham, Edgbaston, Birmingham B15 2TT, United Kingdom; West Midlands Regional Genetics Service (G.K., E.R.W.), Birmingham Women's Hospital, Birmingham B15 2TG, United Kingdom; Division of Genetics and Molecular Medicine (M.A.S., R.C.T.), King's College London School of Medicine, Guy's Hospital, London WC2R 2LS, United Kingdom; Department of Clinical Genetics (J.N.B.), University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, United Kingdom; Department of Clinical Genetics (E.K.), Royal Hospital for Sick Children (Yorkhill), Glasgow G3 8SJ, United Kingdom; and Department of Medical Genetics (P.J.M.), Queen's University Belfast, Belfast Health and Social Care Trust, Belfast BT9 7AB, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2014-1659DOI Listing
October 2014

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

J Clin Res Pediatr Endocrinol 2014 Sep;6(3):169-73

Bahçeşehir University Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey. E-ma-il:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4274/Jcrpe.1404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293646PMC
September 2014

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

Endocr Relat Cancer 2014 Aug 23;21(4):567-77. Epub 2014 May 23.

Institute of PathologyUniversity Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Krankenhausstraße 8-10, D-91054 Erlangen, GermanyProgram on Developmental Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USADivision Molecular Genome AnalysisDivision of Theoretical BioinformaticsGerman Cancer Research Center (DKFZ), Heidelberg, GermanyInstitut CochinINSERM U1016, CNRS UMR 8104, Université Paris Descartes, Sorbonne Paris Cité, Paris, FranceDepartment of EndocrinologyReferal Center for Rare Adrenal Diseases, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, FranceInstitute of PathologyUniversity Medical Center, Georg-August University, Göttingen, GermanyInstitute of PathologyUniversity Hospital, Albert-Ludwigs University Freiburg, Freiburg, GermanySchool of Clinical and Experimental MedicineCollege of Medical and Dental Sciences, Centre for Rare Diseases and Personalised Medicine, Birmingham Women's Hospital, University of Birmingham and West Midlands Regional Genetics Service, Birmingham, UKDepartment of Medical GeneticsUniversity of Cambridge, Cambridge CB2 0QQ, UKLaboratory Medicine and PathologyEmeritus Staff, Mayo Clinic, Rochester, Minnesota, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/ERC-14-0254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722532PMC
August 2014

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

Endocr Relat Cancer 2014 Aug 20;21(4):653-61. Epub 2014 Jun 20.

Department of PathologyJosephine Nefkens Institute, Erasmus MC, Rotterdam, The NetherlandsDepartment of Pediatric Oncology-HematologyErasmus MC-Sophia Children's Hospital, Rotterdam, The NetherlandsSector of EndocrinologyDepartment of Internal Medicine, Erasmus MC, Rotterdam, The NetherlandsCancer Biology and Metabolism GroupInstitute of Genetics and Molecular Medicine, Edinburgh Cancer Research UK Centre, University of Edinburgh, Edinburgh, UKDepartment of Medical GeneticsUniversity of Cambridge, Cambridge, UKDepartment of SurgeryErasmus MC, Rotterdam, The NetherlandsDivision of EndocrinologyDepartment of Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The NetherlandsDepartment of Medical OncologyErasmus MC, Rotterdam, The NetherlandsDepartment of PathologyReinier de Graaf Hospital, Delft, The Netherlands

View Article

Download full-text PDF

Source
http://erc.endocrinology-journals.org/content/early/2014/06/
Web Search
http://erc.endocrinology-journals.org/cgi/doi/10.1530/ERC-13
Publisher Site
http://dx.doi.org/10.1530/ERC-13-0429DOI Listing
August 2014

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

Authors:
Eamonn R Maher

Clin Med (Lond) 2014 Aug;14(4):440-4

Department of Medical Genetics, University of Cambridge, Addenbrooke's Treatment Centre, Cambridge; Department of Clinical Genetics, Cambridge University Hospitals, Cambridge

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7861/clinmedicine.14-4-440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4952843PMC
August 2014

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

Clin Epigenetics 2014 4;6(1):11. Epub 2014 Jun 4.

Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK ; Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK.

View Article

Download full-text PDF

Source
http://clinicalepigeneticsjournal.biomedcentral.com/articles
Publisher Site
http://dx.doi.org/10.1186/1868-7083-6-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064264PMC
July 2014

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

BMC Cancer 2014 Jul 10;14:506. Epub 2014 Jul 10.

Centre for Rare Diseases and Personalised Medicine and Department of Medical & Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2407-14-506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4227105PMC
July 2014

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

Hum Mol Genet 2014 Jun 29;23(12):3269-77. Epub 2014 Jan 29.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030780PMC
June 2014

Clinical utility gene card for: von Hippel-Lindau (VHL).

Eur J Hum Genet 2014 Apr 28;22(4). Epub 2013 Aug 28.

1] Birmingham Women's Hospital-West Midlands Regional Genetics Laboratory, Birmingham, UK [2] Department of Medical Genetics, University of Cambridge, Cambridge, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953906PMC
April 2014

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Eur J Hum Genet 2014 Mar 3;22(3). Epub 2013 Jul 3.

Department of Paediatrics and Genome Biology Program, Hospital for Sick Children and Institute of Medical Science, University of Toronto, Toronto, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925261PMC
March 2014

Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism.

Endocrine 2014 Mar 15;45(2):206-12. Epub 2013 Aug 15.

Department of Medical Genetics, Bahcesehir University School of Medicine, Istanbul, Turkey,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12020-013-0027-7DOI Listing
March 2014

UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene.

Hum Mutat 2013 Dec 7;34(12):1650-61. Epub 2013 Oct 7.

Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4028990PMC
December 2013

Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriers.

Cancer Epidemiol Biomarkers Prev 2013 Dec 27;22(12):2269-76. Epub 2013 Nov 27.

Authors' Affiliations: Department of Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, St. Mary's Hospital; Genesis Prevention Centre, University Hospital of South Manchester Southmoor Road; Centre for Health Informatics, Institute of Population Health, The University of Manchester, Manchester; and Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, and West Midlands Regional Genetics Service, Birmingham, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1158/1055-9965.EPI-13-0316-TDOI Listing
December 2013

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology.

Clin Epigenetics 2013 Dec 10;5(1):23. Epub 2013 Dec 10.

Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1868-7083-5-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3878854PMC
December 2013

VHL-dependent regulation of a β-dystroglycan glycoform and glycogene expression in renal cancer.

Int J Oncol 2013 Nov 21;43(5):1368-76. Epub 2013 Aug 21.

Cancer Research UK Centre, Leeds Institute of Cancer and Pathology, St. James's University Hospital, Leeds LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3892/ijo.2013.2066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3823392PMC
November 2013

Functional epigenetic approach identifies frequently methylated genes in Ewing sarcoma.

Epigenetics 2013 Nov 4;8(11):1198-204. Epub 2013 Sep 4.

Centre for Rare Diseases and Personalized Medicine; School of Clinical and Experimental Medicine; University of Birmingham; Birmingham, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4161/epi.26266DOI Listing
November 2013

Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing.

J Med Genet 2013 Sep 28;50(9):635-9. Epub 2013 Jun 28.

Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2013-101693DOI Listing
September 2013

RASSF2 methylation is a strong prognostic marker in younger age patients with Ewing sarcoma.

Epigenetics 2013 Sep 18;8(9):893-8. Epub 2013 Jul 18.

Centre for Rare Diseases and Personalized Medicine; School of Clinical and Experimental Medicine; University of Birmingham; Birmingham, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4161/epi.25617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883766PMC
September 2013

Methylation profiling and evaluation of demethylating therapy in renal cell carcinoma.

Clin Epigenetics 2013 Sep 13;5(1):16. Epub 2013 Sep 13.

Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1868-7083-5-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848591PMC
September 2013

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

J Clin Endocrinol Metab 2013 Jul 10;98(7):E1248-56. Epub 2013 May 10.

Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham B15 2TH, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2013-1319DOI Listing
July 2013

HIF2 and endocrine neoplasia: an evolving story.

Authors:
Eamonn R Maher

Endocr Relat Cancer 2013 Jun 30;20(3):C5-7. Epub 2013 May 30.

Department of Medical Genetics, University of Cambridge, Cambridge, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/ERC-13-0146DOI Listing
June 2013

Genes, assisted reproductive technology and trans-illumination.

Epigenomics 2013 Jun;5(3):331-40

Centre for Rare Diseases & Personalised Medicine, School of Clinical & Experimental Medicine, College of Medical & Dental Sciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2217/epi.13.28DOI Listing
June 2013

Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.

Am J Med Genet C Semin Med Genet 2013 May;163C(2):106-13

University of Wolverhampton, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31358DOI Listing
May 2013

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

Orphanet J Rare Dis 2013 May 16;8:74. Epub 2013 May 16.

Department of Medical and Molecular Genetics and Centre for Rare Diseases and Personalised Medicine, University of Birmingham School of Medicine, Birmingham, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659031PMC
May 2013

Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation.

J Pediatr Endocrinol Metab 2012 ;25(11-12):1153-6

Clinics of Pediatric Endocrinoloy, Dr. Sami Ulus Women Health, Children's Training and Research Hospital, Ankara 06080, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem-2012-0211DOI Listing
March 2013

DNA methylation profiling distinguishes histological subtypes of renal cell carcinoma.

Epigenetics 2013 Mar 21;8(3):252-67. Epub 2013 Feb 21.

Centre for Rare Diseases and Personalised Medicine, Department of Medical & Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Birmingham, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4161/epi.23817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669118PMC
March 2013

Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma.

Arq Bras Endocrinol Metabol 2012 Nov;56(8):507-12

Endocrine Division, Department of Internal Medicine, University Hospital at Universidade Federal do Parana, Curitiba, Brazil.

View Article

Download full-text PDF

Source
November 2012