作者：Martin Mraz (1)
Olha Hurba (2)
Josef Bartl (2)
Zdenek Dolezel (3)
Anthony Marinaki (4)
Lynette Fairbanks (4)
Blanka Stiburkova (2) (5)

1. Department of Nephrology ; Birmingham Children鈥檚 Hospital NHS Foundation Trust ; Birmingham ; UK
2. First Faculty of Medicine ; Institute of Inherited Metabolic Disorders ; Charles University in Prague and General University Hospital ; Prague ; Czech Republic
3. Department of Paediatrics ; University Hospital Brno ; Medical Faculty of Masaryk University ; Brno ; Czech Republic
4. Purine Research Laboratory ; GSTS Pathology ; Guy鈥檚 and St Thomas鈥?Hospital NHS Foundation Trust ; London ; UK
5. Institute of Rheumatology ; Na Slupi 4 ; 128 50 ; Prague 2 ; Czech Republic

关键词：Hereditary xanthinuria ; Allopurinol loading test ; Intestinal biopsy ; Liver biopsy ; Urinary metabolomics ; Molecular genetics

刊名：Urological Research

出版年：2015

作者：Debra Bick (1)
Sarah Beake (1)
Lucy Chappell (2)
Khaled M Ismail (3)
David R McCance (4)
James SA Green (5) (6)
Cath Taylor (1)

1. King鈥檚 College London ; Florence Nightingale Faculty of Nursing and Midwifery ; James Clerk Maxwell Building ; 57 Waterloo Road ; London ; SE1 8WA ; UK
2. Women鈥檚 Health Academic Centre ; Guys and St Thomas鈥?NHS Foundation Trust ; 10th floor North Wing ; St Thomas鈥?Hospital ; Westminster Bridge Road ; London ; SE1 7EH ; UK
3. Birmingham Centre for Women鈥檚 and Children鈥檚 Health ; School of Clinical & Experimental Medicine ; College of Medical & Dental Sciences ; University of Birmingham ; Birmingham ; B15 2TT ; UK
4. Regional Centre for Endocrinology and Diabetes ; Royal Victoria Hospital ; Grosvenor Road ; Belfast ; BT12 6BA ; UK
5. Whipps Cross Hospital ; Barts NHS Trust ; London ; UK
6. Department of Health and Social Care ; London South Bank University ; London ; UK

关键词：Multidisciplinary team ; Pregnancy ; Diabetes ; Cardiac disease ; Maternity ; Antenatal ; Postnatal ; Complex pregnancies

刊名：BMC Pregnancy and Childbirth

出版年：2014

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：Joanna D Smith (1)
Jessica Baillie (2)
Trevor Baglin (3)
Gareth O Griffiths (1)
Angela Casbard (1)
David Cohen (4)
David A Fitzmaurice (5)
Kerenza Hood (6)
Peter Rose (7)
Alexander T Cohen (8)
Miriam Johnson (9)
Anthony Maraveyas (9)
John Bell (1)
Harold Toone (1)
Annmarie Nelson (2)
Simon I Noble (2)

1. Wales Cancer Trials Unit ; Cardiff University School of Medicine ; Heath Park ; Cardiff ; Wales ; CF14 4YS ; UK
2. Marie Curie Palliative Care Research Centre ; Cardiff University School of Medicine ; Heath Park ; Cardiff ; Wales ; CF14 4YS ; UK
3. Department of Hematology ; Addenbrooke鈥檚 Hospital ; Cambridge University Hospitals NHS ; Foundation Trust ; Hills Road ; Cambridge ; CB2 0QQ ; UK
4. Faculty of Health ; Sport and Science ; University of South Wales ; Pontypridd ; CF37 1DL ; UK
5. Primary Care Clinical Sciences ; School of Health and Population Sciences ; College of Medical and Dental Sciences ; University of Birmingham ; Edgbaston ; Birmingham ; B15 2TT ; UK
6. South East Wales Trials Unit ; Cardiff University School of Medicine ; Heath Park ; Cardiff ; Wales ; CF14 4YS ; UK
7. Department of Hematology ; Warwick Hospital ; Lakin Road ; Warwick ; CV34 5BW ; UK
8. Department of Surgery and Vascular Medicine ; King鈥檚 College Hospital ; Denmark Hill ; London ; SE5 9RS ; UK
9. Hull York Medical School ; The University of Hull ; Castle Road ; Hull ; HU16 5JQ ; UK

关键词：Venous thromboembolism ; Pulmonary embolus ; Deep vein thrombosis ; Cancer associated thrombosis ; Low molecular weight heparin ; Randomized controlled trial ; Mixed methods ; Palliative care ; Qualitative research ; Framework analysis

刊名：Trials

出版年：2014

作者：Peter C Rouse (1) (2) (4)
Jet JCS Veldhuijzen Van Zanten (2) (4)
George S Metsios (3) (4)
Nikos Ntoumanis (5)
Chen-an Yu (2)
Yiannis Koutedakis (3) (4)
Sally AM Fenton (2)
Joanna Coast (6)
Hema Mistry (7)
George D Kitas (4)
Joan L Duda (2)

1. Department of Health ; University of Bath ; Bath ; BA2 7AY ; UK
2. School of Sport ; Exercise and Rehabilitation Sciences ; University of Birmingham ; Edgbaston ; Birmingham ; B15 2TT ; UK
4. Department of Rheumatology ; The Dudley Group NHS Foundation Trust ; Russell鈥檚 hall Hospital ; Dudley ; DY1 2HQ ; UK
3. Institute of Sport ; Faculty of Health ; Education and WellBeing ; University of Wolverhampton ; Wolverhampton ; WV1 1LY ; UK
5. School of Psychology and Speech Pathology ; Curtin University ; Perth ; 6845 ; Western Australia
6. School of Health and Population Sciences ; University of Birmingham ; Birmingham ; B15 2TT ; UK
7. Warwick Medical School ; University of Warwick ; Coventry ; CV4 7AL ; UK

关键词：Rheumatoid arthritis ; Physical activity ; Behaviour change ; Self ; determination theory ; Autonomy support ; Autonomous motivation

刊名：BMC Musculoskeletal Disorders

出版年：2014