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：Berta Almoguera (1)
Sijie He (2) (3)
Marta Corton (4) (5)
Patricia Fernandez-San Jose (4) (5)
Fiona Blanco-Kelly (4) (5)
Maria Isabel L贸pez-Molina (5) (6)
Blanca Garc铆a-Sandoval (5) (6)
Javier del Val (7)
Yiran Guo (1)
Lifeng Tian (1)
Xuanzhu Liu (3)
Liping Guan (3)
Rosa J Torres (8)
Juan G Puig (9)
Hakon Hakonarson (1)
Xun Xu (10) (3)
Brendan Keating (1)
Carmen Ayuso (4) (5)

1. Center for Applied Genomics ; The Children鈥檚 Hospital of Philadelphia ; Philadelphia ; PA ; 19104 ; USA
2. College of Life Sciences ; University of Chinese Academy of Sciences ; Beijing ; 100049 ; China
3. BGI-Shenzhen ; Shenzhen ; 518083 ; China
4. Department of Genetics and Genomics ; IIS-Fundaci贸n Jim茅nez D铆az University Hospital (IISFJD ; UAM) ; 28040 ; Madrid ; Spain
5. Center for Biomedical Network Research on Rare Diseases (CIBERER) ; ISCIII ; Madrid ; Spain
6. Department of Ophthalmology ; Fundaci贸n Jim茅nez D铆az ; 28040 ; Madrid ; Spain
7. Department of Neurology ; Fundaci贸n Jim茅nez D铆az ; 28040 ; Madrid ; Spain
8. Department of Biochemistry ; La Paz University Hospital IdiPaz ; Madrid ; 28046 ; Spain
9. Department of Internal Medicine ; Metabolic-Vascular Unit ; La Paz University Hospital IdiPaz ; Madrid ; 28046 ; Spain
10. The Guangdong Enterprise Key Laboratory of Human Disease Genomics ; Shenzhen ; China

关键词：PRPS1 ; Retinitis pigmentosa ; Non ; random X ; chromosome inactivation ; Phosphoribosyl pyrophosphate synthetase deficiency ; Neuropathy

刊名：Orphanet Journal of Rare Diseases

出版年：2014

作者：Carolyn M Yrigollen (4)
Loreto Martorell (5)
Blythe Durbin-Johnson (6)
Montserrat Naudo (5)
Jordi Genoves (5)
Alessandra Murgia (7)
Roberta Polli (7)
Lili Zhou (8)
Deborah Barbouth (9)
Abigail Rupchock (9)
Brenda Finucane (10)
Gary J Latham (11)
Andrew Hadd (11)
Elizabeth Berry-Kravis (8)
Flora Tassone (12) (4)

4. Department of Biochemistry and Molecular Medicine ; University of California ; Davis ; School of Medicine ; 2700 Stockton Blvd. ; Suite 2102 ; Sacramento ; CA ; 95817 ; USA
5. Molecular Genetics Section ; Hospital Sant Joan de D茅u ; Barcelona ; Spain
6. Department of Public Health Sciences ; University of California ; Davis ; Davis ; CA ; USA
7. Laboratory of Molecular Genetics of Neurodevelopment ; Department of Women鈥檚 and Children鈥檚 Health ; University of Padova ; Padova ; Italy
8. Department of Pediatrics ; Neurological Sciences ; and Biochemistry ; Rush University Medical Center ; Chicago ; IL ; USA
9. Dr. John T. Macdonald Foundation ; Department of Human Genetics ; Miller School of Medicine ; University of Miami ; Miami ; FL ; USA
10. Geisinger Autism and Developmental Medicine Institute ; Lewisburg ; PA ; USA
11. Asuragen ; Inc. ; Austin ; TX ; USA
12. MIND Institute ; University of California ; Davis ; School of Medicine ; Davis ; CA ; USA

关键词：AGG interruptions ; premutation ; FMR1 ; gray/intermediate allele ; full mutation ; risk of expansion

刊名：Journal of Neurodevelopmental Disorders

出版年：2014

作者：Susan M Motch Perrine (1)
Theodore M Cole III (2)
Neus Mart铆nez-Abad铆as (1) (5)
Kristina Aldridge (3)
Ethylin Wang Jabs (4)
Joan T Richtsmeier (1) (6)

1. Department of Anthropology ; Pennsylvania State University ; University Park ; PA ; 16802 ; USA
2. Department of Basic Medical Science ; University of Missouri-Kansas City School of Medicine ; Kansas City ; MO ; 64110 ; USA
5. CRG ; Center for Genomic Regulation ; Dr. Aiguader ; 88 ; 08003 ; Barcelona ; Spain
3. Department of Pathology & Anatomical Sciences ; University of Missouri School of Medicine ; Columbia ; MO ; 65212 ; USA
4. Department of Genetics and Genomic Sciences ; Icahn School of Medicine at Mount Sinai ; New York ; NY ; 10029 ; USA
6. Center for Functional Anatomy and Evolution ; Johns Hopkins University School of Medicine ; Baltimore ; MD ; 21228 ; USA

关键词：Fibroblast growth factor receptor signaling ; Cranial development ; Skull growth ; Suture ; Craniosynostosis ; Apert syndrome

刊名：BMC Developmental Biology

出版年：2014

作者：Anna Delprato (1)
Ana M. Aransay (2)
Heike Kollmus (3)
Klaus Schughart (3) (4) (5)
Juan M. Falcon-Perez (2) (6)

刊名：Mammalian Genome

出版年：2013

作者： Diewertje Sluik ; Brian Buijsse…

刊名：Nederlands Tijdschrift voor Diabetologie

出版年：2012