作者：Ulrich Beuers (1)
M. Eric Gershwin (2)

1. Department of Gastroenterology and Hepatology ; Tytgat Institute for Liver and Intestinal Research ; Academic Medical Center ; University of Amsterdam ; P.O. Box 22600 ; 1100 DD ; Amsterdam ; The Netherlands
2. Division of Rheumatology ; Allergy and Clinical Immunology ; University of California at Davis School of Medicine ; Davis ; CA ; 95616 ; USA

关键词：Primary biliary cirrhosis ; Environmental factors ; Biologics ; Genetics ; Autoimmune hepatitis ; Progressive sclerosing cholangitis

刊名：Clinical Reviews in Allergy & Immunology

出版年：2015

作者：Mark Nellist (1)
Rutger WW Brouwer (2)
Christel EM Kockx (2)
Monique van Veghel-Plandsoen (1)
Caroline Withagen-Hermans (1)
Lida Prins-Bakker (1)
Marianne Hoogeveen-Westerveld (1)
Alan Mrsic (1)
Mike MP van den Berg (1) (3)
Anna E Koopmans (1) (3)
Marie-Claire de Wit (4)
Floor E Jansen (5)
Anneke JA Maat-Kievit (1)
Ans van den Ouweland (1)
Dicky Halley (1)
Annelies de Klein (1)
Wilfred FJ van IJcken (2)

1. Department of Clinical Genetics ; Ee-2426 ; Erasmus Medical Center ; Wytemaweg 80 ; 3015 ; Rotterdam ; CN ; The Netherlands
2. Center for Biomics ; Erasmus Medical Center ; Wytemaweg 80 ; 3015 ; Rotterdam ; CN ; The Netherlands
3. Department of Ophthalmology ; Erasmus Medical Center ; Wytemaweg 80 ; 3015 ; Rotterdam ; CN ; The Netherlands
4. Department of Neurology ; Sophia Children鈥檚 Hospital ; Erasmus Medical Center ; Wytemaweg 80 ; 3015 ; Rotterdam ; CN ; The Netherlands
5. Department of Pediatric Neurology ; Brain Center Rudolf Magnus ; University Medical Center Utrecht ; 3508 ; Utrecht ; EA ; The Netherlands

关键词：Tuberous sclerosis complex ; TSC1 ; TSC2 ; HaloPlex ; Next Generation Sequencing

刊名：BMC Medical Genetics

出版年：2015

作者：Menno H. Schut (1)
Barry A. Pepers (1)
Rinse Klooster (4)
Silv猫re M. van der Maarel (1)
Mohamed el Khatabi (3)
Theo Verrips (3)
Johan T. den Dunnen (1) (2)
Gert-Jan B. van Ommen (1)
Willeke M. C. van Roon-Mom (1)

1. Department of Human Genetics ; Center for Human and Clinical Genetics ; Leiden University Medical Center ; Albinusdreef 2 ; 2333 ZA ; Leiden ; The Netherlands
4. Merus BV ; Padualaan 8 ; 3584 CH ; Utrecht ; The Netherlands
3. QVQ BV ; Padualaan 8 ; 3584 CH ; Utrecht ; The Netherlands
2. Leiden Genome Technology Center ; Center for Human and Clinical Genetics ; Leiden University Medical Center ; Albinusdreef 2 ; 2333 ZA ; Leiden ; The Netherlands

关键词：VHH ; Huntington disease ; PolyQ ; N ; terminal huntingtin ; Huntingtin

刊名：Neurological Sciences

出版年：2015

作者：Steve Michel (1)
Markus A Keller (2)
Mirjam MC Wamelink (4)
Markus Ralser (2) (3)

1. Max Planck Institute for Molecular Genetics ; Ihnestr 73 ; Berlin ; 14195 ; Germany
2. Department of Biochemistry and Cambridge Systems Biology Center ; University of Cambridge ; 80 ; Tennis ; Court Road ; Cambridge ; CB2 1GA ; UK
4. Metabolic Unit ; Department of Clinical Chemistry ; VU University Medical Centre Amsterdam ; Amsterdam ; The Netherlands
3. MRC National Institute for Medical Research ; The Ridgeway ; Mill Hill ; London ; UK

关键词：Chronological lifespan ; Pentose phosphate pathway ; Transaldolase ; NQM1 ; VHR1 ; Oxidative stress

刊名：BMC Genetics

出版年：2015

作者：Sevilay Temel (1)
Sabine F. van Voorst (1)
Lieke C. de Jong-Potjer (1)
Adja J. M. Waelput (1)
Martina C. Cornel (2)
Sabina Rombout de Weerd (3)
Semiha Denkta艧 (1)
Eric A. P. Steegers (1)

1. Department of Obstetrics and Gynaecology ; Division of Obstetrics and Prenatal Medicine ; Erasmus University Medical Centre ; SK 4130 ; P.O. Box 2040 ; 3000 CA ; Rotterdam ; The Netherlands
2. Department of Clinical Genetics ; Section of Community Genetics ; EMGO Institute for Health and Care Research ; VU University Medical Centre ; P.O. Box 7057 ; 1007 MB ; Amsterdam ; The Netherlands
3. Department of Obstetrics and Gynaecology ; Albert Schweitzer Hospital ; P.O. Box 444 ; 3300 AK ; Dordrecht ; The Netherlands

刊名：Journal of Community Genetics

出版年：2015

作者：Aimee L Fenwick (1)
Jacqueline AC Goos (2)
Julia Rankin (3)
Helen Lord (4)
Tracy Lester (4)
A Jeannette M Hoogeboom (5)
Ans MW van den Ouweland (5)
Steven A Wall (6)
Irene MJ Mathijssen (2)
Andrew OM Wilkie (1) (6)

1. Weatherall Institute of Molecular Medicine ; John Radcliffe Hospital ; University of Oxford ; Headington ; Oxford ; OX3 9DS ; UK
2. Department of Plastic and Reconstructive Surgery and Hand Surgery ; Erasmus MC ; University Medical Center ; Rotterdam ; The Netherlands
3. Clinical Genetics Department ; Royal Devon and Exeter NHS Foundation Trust ; Exeter ; UK
4. Genetics Laboratories ; Oxford University Hospitals NHS Trust ; Churchill Hospital ; Oxford ; UK
5. Department of Clinical Genetics ; Erasmus MC ; University Medical Center ; Rotterdam ; The Netherlands
6. Craniofacial Unit ; Oxford University Hospitals NHS Trust ; John Radcliffe Hospital ; Oxford ; UK

关键词：Craniosynostosis ; Crouzon syndrome ; Expressivity ; FGFR2 ; Penetrance ; Splicing ; Synonymous substitution

刊名：BMC Medical Genetics

出版年：2014

作者：Eva Morava (1) (2)
Sunnie Wong (1)
Dirk Lefeber (3)

1. Hayward Genetics Center ; Tulane University School of Medicine ; 1430 Tulane Ave ; New Orleans ; LA ; 70112 ; USA
2. Department of Pediatrics ; Tulane University School of Medicine ; New Orleans ; LA ; USA
3. Department of Neurology ; Radboudumc ; Nijmegen ; The Netherlands

刊名：Journal of Inherited Metabolic Disease

出版年：2015

作者：Rachel Thompson M.Chem. (1)
Louise Johnston Ph.D. (1)
Domenica Taruscio PhD ; M.D. (2)
Lucia Monaco Ph.D. (3)
Christophe B茅roud PharmD ; Ph.D. (4)
Ivo G. Gut Ph.D. (5)
Mats G. Hansson Ph.D. (6)
Peter-Bram A. 鈥檛 Hoen Ph.D. (7)
George P. Patrinos PhD (8)
Hugh Dawkins Ph.D. (9)
Monica Ensini Ph.D. (1)
Kurt Zatloukal M.D. (10)
David Koubi Ph.D. (11)
Emma Heslop M.Sc. (1)
Justin E. Paschall M.A. (12)
Manuel Posada Ph.D. (13)
Peter N. Robinson M.D. ; Ph.D. (14)
Kate Bushby M.D. ; F.R.C.P. (1)
Hanns Lochm眉ller Ph.D. ; M.D. (1)

1. Institute of Genetic Medicine ; MRC Centre for Neuromuscular Diseases ; Newcastle University ; London ; UK
2. Istituto Superiore di Sanit脿 ; Rome ; Italy
3. Fondazione Telethon ; Milan ; Italy
4. Aix Marseille Universit茅 ; INSERM ; GMGF UMR_S 910 ; 13385 ; Marseille ; France
5. Centre Nacional d鈥橝n脿lisi Gen貌mica ; Barcelona ; Spain
6. Uppsala University ; Uppsala ; Sweden
7. Leiden University Medical Centre ; Leiden ; Netherlands
8. University of Patras ; Patras ; Greece
9. Office of Population Health Genomics ; Department of Health Western Australia ; Perth ; Australia
10. Medical University of Graz ; Graz ; Austria
11. Finovatis ; Lyon ; France
12. European Molecular Biology Laboratory ; European Bioinformatics Institute (EMBL-EBI) ; Hinxton ; UK
13. Instituto de Salud Carlos III ; Instituto de Investigaci贸n de Enfermedades Raras ; CIBERER ; Madrid ; Spain
14. Institute for Medical Genetics and Human Genetics ; Charit茅-Universit盲tsmedizin ; Berlin ; Germany

关键词：genetics ; medical informatics ; databases ; clinical trials ; Electronic health records

刊名：Journal of General Internal Medicine

出版年：2014

作者：Barbara W van Paassen (7)
Anneke J van der Kooi (8)
Karin Y van Spaendonck-Zwarts (7)
Camiel Verhamme (8)
Frank Baas (9)
Marianne de Visser (8)

7. Department of Clinical Genetics ; Academic Medical Center ; Meibergdreef 9 ; 1105 AZ ; Amsterdam ; the Netherlands
8. Department of Neurology ; Academic Medical Center ; Meibergdreef 9 ; 1105 AZ ; Amsterdam ; the Netherlands
9. Department of Genome Analysis ; Academic Medical Center ; Meibergdreef 9 ; 1105 AZ ; Amsterdam ; the Netherlands

关键词：Peripheral myelin protein 22 (PMP22) ; Charcot ; Marie ; Tooth disease type 1A (CMT1A) ; Hereditary Motor and Sensory Neuropathy type Ia (HMSN Ia) ; Hereditary Neuropathy with liability to Pressure Palsies (HNPP) ; Demyelinating ; Clinical description ; Genetic counselling

刊名：Orphanet Journal of Rare Diseases

出版年：2014

作者：Jean-Pierre Bayley (1)
Rogier A Oldenburg (6)
Jennifer Nuk (8)
Attje S Hoekstra (1)
Conny A van der Meer (6)
Esther Korpershoek (7)
Barbara McGillivray (8)
Eleonora PM Corssmit (5)
Winand NM Dinjens (7)
Ronald R de Krijger (7)
Peter Devilee (1) (3)
Jeroen C Jansen (4)
Frederik J Hes (2)

1. Department of Human Genetics ; Leiden University Medical Center ; PZ S-04 ; P.O. Box 9600 ; 2300 ; RC ; Leiden ; the Netherlands
6. Department of Clinical Genetics ; Erasmus Medical Center Rotterdam ; Rotterdam ; the Netherlands
8. Hereditary Cancer Program ; BC Cancer Agency ; Vancouver ; Canada
7. Department of Pathology ; Josephine Nefkens Institute ; Erasmus Medical Center Rotterdam ; Rotterdam ; the Netherlands
5. Department of Endocrinology ; Leiden University Medical Center ; Leiden ; the Netherlands
3. Department of Pathology ; Leiden University Medical Center ; Leiden ; the Netherlands
4. Department of Otorhinolaryngology ; Leiden University Medical Center ; Leiden ; the Netherlands
2. Department of Clinical Genetics ; Leiden University Medical Center ; Leiden ; the Netherlands

关键词：Paraganglioma ; Pheochromocytoma ; SDHD ; Imprinting ; Parent ; of ; origin

刊名：BMC Medical Genetics

出版年：2014