作者：Abdulla Ibrahim (1) (2)
Gail Kirby (3)
Carol Hardy (4)
Renuka P Dias (3)
Louise Tee (3)
Derek Lim (3) (4)
Jonathan Berg (2)
Fiona MacDonald (4)
Peter Nightingale (5)
Eamonn R Maher (1) (3)

1. Department of Medical Genetics ; University of Cambridge and NIHR Cambridge Biomedical Research Centre ; Cambridge ; CB2 0QQ ; UK
2. Department of Clinical Genetics ; University of Dundee ; Ninewells Hospital and Medical School ; Dundee ; DD1 9SY ; UK
3. 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
4. West Midlands Regional Genetics Service ; Birmingham Women鈥檚 Hospital ; Birmingham ; B15 2TG ; UK
5. Wellcome Trust Clinical Research Facility ; University Hospitals Birmingham NHS Foundation Trust ; Queen Elizabeth Hospital ; Birmingham ; B15 2TH ; UK

关键词：Beckwith ; Wiedemann syndrome ; Imprinting ; 11p15 ; Diagnostic criteria ; Scoring system

刊名：Clinical Epigenetics

出版年：2014

作者：Arthur B McKie (1)
Atif Alsaedi (2)
Julie Vogt (3)
Kyra E Stuurman (4)
Marjan M Weiss (4)
Hassan Shakeel (1)
Louise Tee (2)
Neil V Morgan (2)
Peter G J Nikkels (8)
Gijs van Haaften (6)
Soo-Mi Park (5)
Jasper J van der Smagt (6)
Marianna Bugiani (7)
Eamonn R Maher (1) (2) (5) (9)

1. Department of Medical Genetics ; University of Cambridge and NIHR Cambridge Biomedical Research Centre ; Cambridge Biomedical Campus ; Cambridge ; CB2 0QQ ; UK
2. Centre for Rare Diseases and Personalised Medicine ; University of Birmingham ; Edgbaston ; Birmingham ; B15 2TT ; UK
3. West Midlands Regional Genetics Service ; Birmingham Women鈥檚 Hospital ; Birmingham ; B15 2TG ; UK
4. Department of Clinical Genetics ; VU University Medical Center ; Amsterdam ; The Netherlands
8. Department of Pathology ; University Medical Center Utrecht ; Utrecht ; The Netherlands
6. Department of Medical Genetics ; University Medical Center Utrecht ; University of Utrecht ; Utrecht ; The Netherlands
5. Department of Clinical Genetics ; Addenbrooke鈥檚 Treatment Centre ; Cambridge University Hospitals NHS Foundation Trust ; Hills Road ; Cambridge ; CB2 0QQ ; UK
7. Department of Pathology ; VU University Medical Center ; Amsterdam ; the Netherlands
9. Department of Medical Genetics ; School of Clinical Medicine ; University of Cambridge ; Addenbrooke鈥檚 Treatment Centre ; Cambridge Biomedical Campus ; Box 238 ; Cambridge ; CB2 0QQ ; United Kingdom

关键词：Multiple pterygium syndrome ; Foetal akinesia ; RYR1 mutations ; Myopathy

刊名：Acta Neuropathologica Communications

出版年：2014

作者：Victoria K Hill (36)
Thoraia Shinawi (36)
Christopher J Ricketts (36)
Dietmar Krex (37)
Gabriele Schackert (37)
Julien Bauer (38)
Wenbin Wei (39)
Garth Cruickshank (40)
Eamonn R Maher (36)
Farida Latif (36)

36. 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
37. Department of Neurosurgery ; University Hospital Carl Gustav Carus Dresden ; Technical University of Dresden ; Dresden ; Germany
38. Department of Pathology ; University of Cambridge ; Tennis Court Road ; Cambridge ; CB2 1QP ; UK
39. School of Cancer Sciences ; University of Birmingham ; Birmingham ; UK
40. Department of Neurosurgery ; University of Birmingham and Queen Elizabeth Hospital Birmingham ; Birmingham ; UK

关键词：Primary and secondary glioblastoma (pGBM ; sGBM) ; HumanMethylation450 ; Methylation ; IDH1 ; CIMP

刊名：BMC Cancer

出版年：2014

作者：Robert A Stockley (1)
Marc Miravitlles (2)
Claus Vogelmeier (3)

关键词：Alpha ; 1 antitrypsin deficiency ; COPD ; Risk factors ; Augmentation therapy

刊名：Orphanet Journal of Rare Diseases

出版年：2013