作者：Kathrin Ebner (1)
Markus Feldkoetter (2)
Gema Ariceta (3)
Carsten Bergmann (4) (5)
Reinhard Buettner (6)
Anke Doyon (7)
Ali Duzova (8)
Heike Goebel (6)
Dieter Haffner (9)
Barbara Hero (1)
Bernd Hoppe (2)
Thomas Illig (10) (11)
Augustina Jankauskiene (12)
Norman Klopp (10)
Jens K枚nig (13)
Mieczyslaw Litwin (14)
Djalila Mekahli (15)
Bruno Ranchin (16)
Anja Sander (17)
Sara Testa (18)
Lutz Thorsten Weber (1)
Dorota Wicher (14)
Ayse Yuzbasioglu (19)
Klaus Zerres (20)
J枚rg D枚tsch (1)
Franz Schaefer (7)
Max Christoph Liebau (1) (21) (22)
ESCAPE Study Group
GPN Study Group

1. Department of Pediatrics ; University Hospital of Cologne ; Kerpener Str. 62 ; 50937 ; Cologne ; Germany
2. Department of Pediatrics ; University Hospital Bonn ; Adenauerallee 119 ; 53113 ; Bonn ; Germany
3. Department of Pediatric Nephrology ; University Hospital Vall d鈥橦ebron ; Pg/Vall d鈥?Hebron 119-129 ; 08034 ; Barcelona ; Spain
4. Bioscientia Center for Human Genetics ; Konrad-Adenauer-Stra脽e 17 ; 55218 ; Ingelheim ; Germany
5. Renal Division ; Department of Medicine ; University Freiburg Medical Center ; Hugstetter Stra脽e 55 ; 79106 ; Freiburg ; Germany
6. Institute of Pathology ; University Hospital of Cologne ; Kerpener Str. 62 ; 50937 ; Cologne ; Germany
7. Division of Pediatric Nephrology ; University Children鈥檚 Hospital Heidelberg ; Im Neuenheimer Feld 430 ; 69120 ; Heidelberg ; Germany
8. Department of Pediatrics ; Division of Pediatric Nephrology ; Hacettepe University Faculty of Medicine ; Sihhiye ; 06100 ; Ankara ; Turkey
9. Department of Pediatric Kidney ; Liver and Metabolic Diseases ; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
10. Hannover Unified Biobank ; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
11. Institute for Human Genetics ; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
12. Vilnius University Hospital ; Center for Pediatrics ; Santariskiu ; 08406 ; Vilnius ; Lithuania
13. Department of General Pediatrics ; University Hospital M眉nster ; Waldeyerstr. 22 ; 48149 ; Muenster ; Germany
14. The Children鈥檚 Memorial Health Institute ; Al. Dzieci Polskich 20 ; 04-730 ; Warsaw ; Poland
15. Department of Pediatric Nephrology ; University Hospitals Leuven ; Herestrtaat 49 ; 3000 ; Leuven ; Belgium
16. Service de N茅phrologie P茅diatrique ; Hospices Civils de Lyon ; Universit茅 de Lyon ; H么pital Femme M猫re Enfant ; 69677 ; Bron ; France
17. Institute of Medical Biometry and Informatics ; University of Heidelberg ; Im Neuenheimer Feld 305 ; 69120 ; Heidelberg ; Germany
18. Pediatric Nephrology Unit ; Fondazione IRCCS Ca Granda Ospedale Maggiore Polic ; Via della Commenda 9 ; 20122 ; Milano ; Italy
19. Department of Medical Biology ; Center for Biobanking and Genomics ; Hacettepe University ; Ankara ; Turkey
20. Institute of Human Genetics ; RWTH University Hospital Aachen ; Pauwelsstrasse 30 ; 52074 ; Aachen ; Germany
21. Center for Molecular Medicine ; University Hospital of Cologne ; Robert-Koch-Str. 21 ; 50931 ; Cologne ; Germany
22. Nephrology Research Laboratory ; Department II of Internal Medicine ; University Hospital of Cologne ; CECAD Building ; Joseph-Stelzmann-Str. 26 ; 50931 ; Cologne ; Germany

关键词：ARPKD ; Ciliopathy ; PKHD1 ; Polycystic kidney disease ; Congenital hepatic fibrosis

刊名：BMC Nephrology

出版年：2015

作者：Y.-C. Guo (1) (2)
X.-W. Lin (3)
W.-T. Zhang (3)
C.-X. Yan (1)
F. Pan (4)
T.-L. Yan (1)
J.-P. Li (1)
T. Chen (1)
A. Schmeling (5)
H. Zhou (2) (4)

1. College of Medicine and Forensics ; Xi鈥檃n Jiaotong University Health Science Center ; Shaanxi ; P.R.China
2. College of Stomatology ; Xi鈥檃n Jiaotong University ; 98 Xiwu Road ; Xi鈥檃n ; 710004 ; Shaanxi ; P.R. China
3. Department of Implantodontics ; Stomatological Hospital of Xi鈥檃n Jiaotong University ; Shaanxi ; P.R. China
4. Department of Orthodontics ; Stomatological Hospital of Xi鈥檃n Jiaotong University ; Shaanxi ; P.R. China
5. Institute of Legal Medicine ; University Hospital M眉nster ; M眉nster ; Germany

关键词：Dental age estimation ; Third molar mineralization ; Northern Chinese population ; Ethnicity ; Demirjian鈥檚 method ; Zahn盲rztliche Alterssch盲tzung ; Mineralisation der dritten Molaren ; Nordchinesische Population ; Ethnische Zugeh枚rigkeit ; Demirjian ; Methode

刊名：Rechtsmedizin

出版年：2015

作者：Julia Vodopiutz (1)
Maria T. Schmook (2)
Vassiliki Konstantopoulou (1)
Barbara Plecko (3)
Susanne Greber-Platzer (1)
Marc Creus (4)
Rainer Seidl (1)
Andreas R. Janecke (5) (6)

1. Department of Pediatrics and Adolescent Medicine ; Medical University of Vienna ; W盲hringer G眉rtel 18-20 ; 1090 ; Wien ; Austria
2. Department of Biomedical Imaging and Image-guided Therapy ; Division of Neuroradiology and Musculoskeletal Radiology ; Medical University of Vienna ; Wien ; Austria
3. Division of Neuropediatrics ; University Children鈥檚 Hospital Z眉rich ; Zurich ; Switzerland
4. Department of Chemistry ; University of Basel ; Basel ; Switzerland
5. Department of Pediatrics I ; Innsbruck Medical University ; Innsbruck ; Austria
6. Division of Human Genetics ; Innsbruck Medical University ; Innsbruck ; Austria

关键词：Dystonia ; Infantile neurodegeneration ; Exome sequencing ; Basal ganglia degeneration ; Mediator complex

刊名：European Journal of Pediatrics

出版年：2015

作者：Michaela Thoenes (1)
Ulrike Zimmermann (2)
Inga Ebermann (1)
Martin Ptok (3)
Morag A Lewis (4)
Holger Thiele (5)
Susanne Morlot (6)
Markus M Hess (7)
Andreas Gal (8)
Tobias Eisenberger (9)
Carsten Bergmann (10) (9)
Gudrun N眉rnberg (5)
Peter N眉rnberg (11) (5)
Karen P Steel (4)
Marlies Knipper (2)
Hanno J枚rn Bolz (1) (9)

1. Institute of Human Genetics ; University Hospital of Cologne ; Cologne ; Germany
2. Molecular Physiology of Hearing ; Hearing Research Centre T眉bingen (THRC) ; Department of Otolaryngology ; University of T眉bingen ; T眉bingen ; Germany
3. Department of Phoniatrics and Pediatric Audiology ; Hannover Medical School ; Hannover ; Germany
4. Wolfson Centre for Age-Related Diseases ; King鈥檚 College London ; London ; UK
5. Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC) ; University of Cologne ; Cologne ; Germany
6. Institute for Human Genetics ; Hannover Medical School ; Hannover ; Germany
7. Department of Voice ; Speech and Hearing Disorders ; University Medical Center Hamburg-Eppendorf ; Hamburg ; Germany
8. Department of Human Genetics ; University Medical Center Hamburg-Eppendorf ; Hamburg ; Germany
9. Center for Human Genetics ; Bioscientia ; Ingelheim ; Germany
10. Renal Division ; Department of Medicine ; University Medical Center Freiburg ; Freiburg ; Germany
11. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) ; University of Cologne ; Cologne ; Germany

关键词：OSBPL2 ; DFNA67 ; Autosomal dominant hearing loss

刊名：Orphanet Journal of Rare Diseases

出版年：2015

作者：Alexander Kutz (1)
Matthias Briel (2)
Mirjam Christ-Crain (3)
Daiana Stolz (4)
Lila Bouadma (5)
Michel Wolff (5)
Kristina B Kristoffersen (6)
Long Wei (7)
Olaf Burkhardt (8)
Tobias Welte (8)
Stefan Schroeder (9)
Vandack Nobre (10)
Michael Tamm (4)
Neera Bhatnagar (11)
Heiner C Bucher (2)
Charles-Edouard Luyt (12)
Jean Chastre (12)
Florence Tubach (13)
Beat Mueller (1)
Philipp Schuetz (1)

1. University Department of Medicine ; Kantonsspital Aarau ; Tellstrasse ; 5001 ; Aarau ; Switzerland
2. Basel Institute for Clinical Epidemiology and Biostatistics ; University Hospital Basel ; Hebelstrasse 10 ; Basel ; 4031 ; Switzerland
3. Division of Endocrinology ; Diabetology and Clinical Nutrition ; University Hospital Basel ; Hebelstrasse 10 ; Basel ; 4031 ; Switzerland
4. Clinic of Pneumology and Pulmonary Cell Research ; University Hospital Basel ; Hebelstrasse 10 ; Basel ; 4031 ; Switzerland
5. Service de R茅animation M茅dicale ; Universit茅 Paris 7鈥揇enis Diderot ; H么pital Bichat鈥揅laude-Bernard ; Assistance Publique鈥揌么pitaux de Paris (AP鈥揌P) ; Henri Huchard Paris Cedex 18 ; Paris ; 75877 ; France
6. Department of Infectious Diseases ; Aarhus University Hospital ; Skejby ; Palle Juul-Jensens Boulevard 99 ; 8200 ; Aarhus N ; Denmark
7. Department of Internal and Geriatric Medicine ; Shanghai Jiao Tong University Affiliated Sixth People鈥檚 Hospital ; Huan Hu Xi San Road ; Pudong New Area ; Shanghai ; 201306 ; China
8. Department of Pulmonary Medicine ; Hannover Medical School ; Carl-Neuberg-Str. 1 ; Hannover ; 30659 ; Germany
9. Department of Anesthesiology and Intensive Care Medicine ; D眉ren Hospital ; Roonstra脽e 30 ; D眉ren ; 52351 ; Germany
10. Intensive Care ; Universidade Federal de Minas Gerais ; 6627 - Pampulha ; Belo Horizonte - MG ; 31270-901 ; Brazil
11. Department of Clinical Epidemiology and Biostatistics ; McMaster University ; 1280 Main Street West ; Hamilton ; Ontario ; L8S4L8 ; Canada
12. Service de R茅animation M茅dicale ; Universit茅 Paris 6鈥揚ierre et Marie Curie ; H么pital Piti茅鈥揝alp锚tri猫re ; AP-HP ; 47-83 boulevard de l鈥橦么pital ; Paris ; 75651 ; France
13. AP-HP ; H么pitaux Universitaires Paris Nord Val de Seine ; D茅partement d鈥橢pid茅miologie Biostatistique et Recherche Clinique ; Universit茅 Paris Diderot ; Sorbonne Paris Cit茅 ; UMR 738 ; INSERM ; UMR 738 ; INSERM ; CIE801 ; 5 Rue Thomas Mann ; Paris ; Cedex 13 ; 75013 ; France

刊名：Critical Care

出版年：2015

作者：Sabine Loos (1)
Katrin Arnold (2)
Mike Slade (3)
Harriet Jordan (3)
Valeria Del Vecchio (4)
Gaia Sampogna (4)
脕gnes S眉veges (5)
Marietta Nagy (5)
Malene Krogsgaard Bording (6)
Helle 脴stermark S酶rensen (6)
Wulf R枚ssler (7)
Wolfram Kawohl (8)
Bernd Puschner (2)
The CEDAR study group

1. Department of Child and Adolescent Psychiatry and Psychotherapy ; University Hospital Ulm ; Ulm ; Germany
2. Section Process Outcome Research ; Department of Psychiatry II ; Ulm University ; G眉nzburg ; Germany
3. Section for Recovery ; Institute of Psychiatry ; King鈥檚 College London ; London ; UK
4. Department of Psychiatry ; University of Naples SUN ; Naples ; Italy
5. Department of Psychiatry ; Medical and Health Science Center ; University of Debrecen ; Debrecen ; Hungary
6. Unit for Psychiatric Research ; Aalborg Psychiatric Hospital ; Aalborg University Hospital ; Aalborg ; Denmark
7. Department of General and Social Psychiatry ; University of Zurich ; Zurich ; Switzerland
8. Department of Psychiatry ; Psychotherapy and Psychosomatics ; Centre for Social Psychiatry ; Psychiatric Hospital ; University of Zurich ; Zurich ; Switzerland

刊名：Social Psychiatry and Psychiatric Epidemiology

出版年：2015

作者：Birgit Rathkolb (1) (2)
Martina Klempt (1)
Sibylle Sabrautzki (2) (6)
Dian Michel (2) (6)
Matthias Klaften (2) (6)
J眉rgen Laufs (3)
Reinhard Sedlmeier (3)
Wolfgang Hans (2) (6)
Helmut Fuchs (2) (6)
Martina U. Muckenthaler (4)
Marion Horsch (2) (6)
Dean R. Campagna (5)
Mark Fleming (5)
Martin Hrab茅 de Angelis (2) (6) (7)
Eckhard Wolf (1)
Bernhard Aigner (1)

1. Chair for Molecular Animal Breeding and Biotechnology ; Department of Veterinary Sciences ; and Laboratory for Functional Genome Analysis (LAFUGA) ; Gene Center ; LMU Munich ; Feodor-Lynen-Str. 25 ; 81377 ; Munich ; Germany
2. Institute of Experimental Genetics ; Helmholtz Zentrum M眉nchen ; German Research Center for Environmental Health ; Neuherberg ; TU Munich ; Freising-Weihenstephan ; Germany
6. Chair for Experimental Genetics ; TU Munich ; Freising-Weihenstephan ; Germany
3. Ingenium Pharmaceuticals ; Martinsried ; Germany
4. Department of Paediatric Oncology ; Hematology and Immunology ; University of Heidelberg ; Heidelberg ; Germany
5. Department of Pathology ; Boston Children鈥檚 Hospital ; Boston ; MA ; USA
7. German Center for Diabetes Research ; Neuherberg ; Germany

关键词：Iron ; Ferritin ; Transferrin ; Mouse ; ENU ; Mutagenesis ; Hyperferritinemia

刊名：Biometals

出版年：2015

作者：Sandra Hansmann (1)
Susanne M Benseler (1) (2)
Jasmin B Kuemmerle-Deschner (1)

1. Rheumatology ; General Pediatrics ; Oncology and Hematology University Children鈥檚 Hospital Tuebingen ; Hoppe-Seyler-Str. 1 ; 72076 ; T眉bingen ; Germany
2. Rheumatology ; Department of Pediatrics ; Alberta Children鈥檚 Hospital ; Calgary ; Alberta ; Canada

关键词：Juvenile idiopathic arthritis ; Electrogoniometry ; Joint function

刊名：Pediatric Rheumatology

出版年：2015

作者：Jean-Marie Saudubray (1) (2)
Matthias R. Baumgartner (3)
Ronald Wanders (4)

1. Bioclinic and Genetic Unit of Neurometabolic Diseases ; Salp锚tri猫re Hospital ; (APHP) ; 75013 ; Paris ; France
2. 22 Rue Juliette Lamber ; 75017 ; Paris ; France
3. Division of Metabolism ; University Children鈥檚 Hospital ; Steinwiesstrasse 75 ; CH-8032 ; Z眉rich ; Switzerland
4. Laboratory Genetic Metabolic Diseases Academic Medical Center ; University Hospital Amsterdam ; Meibergdreef 9 ; 1105 AZ ; Amsterdam ; The Netherlands

刊名：Journal of Inherited Metabolic Disease

出版年：2015

作者：Stephen Betschel (1)
Jacquie Badiou (2)
Karen Binkley (1)
Jacques H茅bert (3)
Amin Kanani (4)
Paul Keith (5)
Gina Lacuesta (6)
Bill Yang (7)
Emel Ayg枚ren-P眉rs眉n (8)
Jonathan Bernstein (9)
Konrad Bork (10)
Teresa Caballero (11)
Marco Cicardi (12)
Timothy Craig (13)
Henriette Farkas (14)
Hilary Longhurst (15)
Bruce Zuraw (16)
Henrik Boysen (17)
Rozita Borici-Mazi (18)
Tom Bowen (19)
Karen Dallas (20)
John Dean (21)
Kelly Lang-Robertson (1)
Beno卯t Laram茅e (22)
Eric Leith (23)
Sean Mace (1)
Christine McCusker (24)
Bill Moote (25)
Man-Chiu Poon (26)
Bruce Ritchie (27)
Donald Stark (4)
Gordon Sussman (1)
Susan Waserman (5)

1. University of Toronto ; Toronto ; Ontario ; Canada
2. HAE Canada ; Notre Dame des Lourdes ; Manitoba ; Canada
3. Department of Medicine ; Laval University ; Quebec City ; Quebec ; Canada
4. Department of Medicine ; University of British Columbia ; Vancouver ; British Columbia ; Canada
5. Department of Medicine ; McMaster University ; Hamilton ; Ontario ; Canada
6. Department of Medicine ; Dalhousie University ; Halifax ; Nova Scotia ; Canada
7. University of Ottawa Medical School ; Ottawa ; Ontario ; Canada
8. Goethe-Universit盲t Frankfurt am Main ; Frankfurt am Main ; Germany
9. Department of Internal Medicine ; University of Cincinnati ; Cincinnati ; Ohio ; USA
10. Department of Dermatology ; University Hospital of the Johannes Gutenberg-University of Mainz ; Mainz ; Germany
11. Hospital La Paz Health Research Institute ; Madrid ; Spain
12. Department of Internal Medicine ; UniversitadegliStudi di Milano ; Ospedale L. Sacco ; Milan ; Italy
13. Departments of Medicine and Pediatrics ; Penn State University ; Hershey ; Pennsylvania ; USA
14. 3rd Department of Internal Medicine ; Faculty of Medicine ; Semmelweis University ; Budapest ; Hungary
15. Department of Immunology ; Barts and the London NHS Trust ; London ; England ; UK
16. University of California ; San Diego ; San Diego ; California ; USA
17. HAE International ; Skanderborg ; Denmark
18. Department of Medicine ; Queen鈥檚 University ; Kingston ; Ontario ; Canada
19. Departments of Medicine and Paediatrics ; University of Calgary ; Calgary ; Alberta ; Canada
20. Saskatoon Health Region ; Saskatoon ; Saskatchewan ; Canada
21. BC Children鈥檚 Hospital ; Vancouver ; British Columbia ; Canada
22. Centre hospitalier de l鈥檜niversit茅 de Montr茅al ; Montr茅al ; Quebec ; Canada
23. Department of Medicine ; University of Toronto ; Oakville ; Ontario ; Canada
24. Department of Immunology ; McGill University Health Centre ; Montreal ; Quebec ; Canada
25. Department of Medicine ; Western University ; London ; Ontario ; Canada
26. Southern Alberta Rare Blood and Bleeding Disorders Comprehensive Care Program ; Calgary ; Alberta ; Canada
27. Departments of Medicine and Medical Oncology ; University of Alberta ; Edmonton ; Alberta ; Canada

关键词：Hereditary angioedema ; Guideline ; Recommendations ; Acute attacks ; Short ; term prophylaxis ; Long ; term prophylaxis ; Self ; administration ; Individualized therapy ; Quality of life ; Comprehensive care ; GRADE

刊名：Allergy, Asthma & Clinical Immunology

出版年：2014