作者：Donatella Milani (1)
Francesca Maria Paola Manzoni (1)
Lidia Pezzani (1)
Paola Ajmone (2)
Cristina Gervasini (3)
Francesca Menni (1)
Susanna Esposito (1)

1. Pediatric Highly Intensive Care Unit ; Department of Pathophysiology and Transplantation ; Universit脿 degli Studi di Milano ; Fondazione IRCCS Ca鈥?Granda Ospedale Maggiore Policlinico ; Via Commenda 9 ; 20122 ; Milano ; Italy
2. UO Neuropsichiatria dell鈥橧nfanzia e dell鈥橝dolescenza ; Fondazione IRCCS Ca鈥?Granda Ospedale Maggiore Policlinico ; Milano ; Italy
3. Department of Health Science ; Medical Genetics ; Universit脿 degli Studi di Milano ; Milano ; Italy

关键词：CREBBP ; Intellectual disability ; Plurimalformative syndrome ; Rubinstein syndrome ; Rubinstein ; Taybi syndrome

刊名：Italian Journal of Pediatrics

出版年：2015

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：Meriem Ouni (1)
Yasemin Gunes (1)
Marie-Pierre Belot (1)
Anne-Laure Castell (2)
Delphine Fradin (1)
Pierre Bougn猫res (1) (2)

1. Institut National de la Sant茅 et de la Recherche M茅dicale U986 ; Bic锚tre Hospital ; Paris Sud University ; 80 rue du G茅n茅ral Leclerc Le Kremlin-Bic锚tre ; Paris ; 94276 ; France
2. Department of Pediatric Endocrinology and Diabetes ; I3E Pole ; Bic锚tre Hospital ; Paris Sud University ; rue du G茅n茅ral Leclerc Le Kremlin-Bic锚tre ; Paris ; 94276 ; France

关键词：QTLepi ; Growth ; Short stature ; Height ; IGF1 ; Epigenetics ; DNA methylation ; t ; DMR

刊名：Clinical Epigenetics

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：Deborah A Hall (1)
Rachael C Birch (2)
Mathieu Anheim (3) (4) (5)
Aia E J酶nch (6)
Elizabeth Pintado (7)
Joan A O鈥橩eefe (8)
Julian N Trollor (13) (2)
Glenn T Stebbins (1)
Randi J Hagerman (9)
Stanley Fahn (10)
Elizabeth Berry-Kravis (1) (11)
Maureen A Leehey (12)

1. Department of Neurological Sciences ; Rush University ; Chicago ; IL ; USA
2. Department of Developmental Disability Neuropsychiatry ; School of Psychiatry ; University of New South Wales ; Sydney ; Australia
3. D茅partement de Neurologie ; H么pitaux Universitaires de Strasbourg ; H么pital de Hautepierre ; Strasbourg ; Cedex ; 67098 ; France
4. Institut de G茅n茅tique et de Biologie Mol茅culaire et Cellulaire (IGBMC) ; INSERM-U964/CNRS-UMR7104/Universit茅 de Strasbourg ; Illkirch ; 67404 ; France
5. F茅d茅ration de M茅decine Translationnelle de Strasbourg (FMTS) ; Universit茅 de Strasbourg ; Strasbourg ; France
6. Department of clinical Genetics ; Kennedy Center ; Rigshospitalet ; Copenhagen University Hospital ; Copenhagen ; Denmark
7. Department of Medical Biochemistry and Molecular Biology ; University of Seville ; Sevilla ; Spain
8. Department of Anatomy & Cell Biology ; Rush University ; Chicago ; IL ; USA
13. Centre for Healthy Brain Ageing ; University of New South Wales ; Sydney ; Australia
9. Department of Pediatrics & M.I.N.D. Institute ; University of California at Davis Medical Center ; Sacramento ; CA ; USA
10. Department of Neurology ; Columbia University ; New York ; NY ; USA
11. Departments of Pediatrics and Biochemistry ; Rush University ; Chicago ; IL ; USA
12. Department of Neurology ; University of Colorado at Denver ; Denver ; CO ; USA

刊名：Journal of Neurodevelopmental Disorders

出版年：2015

作者：Vincent R. Bonagura (1) (2) (3)
Jean-Laurent Casanova (4) (5) (6) (7) (8)
David W. Rosenthal (1) (2) (3)

1. Laboratory for Host Defense ; Jeffrey Modell Diagnostic Center ; Feinstein Institute for Medical Research ; Manhasset ; NY ; USA
2. Departments of Pediatrics and Internal Medicine ; Hofstra NS-LIJ School of Medicine ; Great Neck ; New York ; USA
3. Alexandra and Steven Cohen Children鈥檚 Medical Center of New York ; North Shore-LIJ Medical Center ; Great Neck ; New York ; USA
4. St. Giles Laboratory of Human Genetics of Infectious Diseases ; Rockefeller Branch ; The Rockefeller University ; New York ; NY ; USA
5. Howard Hughes Medical Institute ; New York ; USA
6. Laboratory of Human Genetics of Infectious Diseases ; Necker Branch ; Necker Hospital for Sick Children ; Paris ; France
7. Paris Descartes University ; Imagine Institute ; Paris ; France
8. Pediatric Hematology-Immunology Unit ; Necker Hospital for Sick Children ; Paris ; France

刊名：Journal of Clinical Immunology

出版年：2015

作者：Adriane F Evangelista (1)
Cristhianna VA Collares (1) (2)
Danilo J Xavier (1)
Claudia Macedo (1)
Fernanda S Manoel-Caetano (1)
Diane M Rassi (1)
Maria C Foss-Freitas (2)
Milton C Foss (2)
Elza T Sakamoto-Hojo (1) (3)
Catherine Nguyen (4)
Denis Puthier (4)
Geraldo A Passos (1) (5)
Eduardo A Donadi (1) (2)

1. Molecular Immunogenetics Group ; Department of Genetics ; Faculty of Medicine of Ribeir茫o Preto ; University of S茫o Paulo (USP) ; 14049-900 ; Ribeir茫o Preto ; SP ; Brazil
2. Division Clinical Immunology ; Faculty of Medicine of Ribeir茫o Preto ; (USP) ; 14049-900 ; Ribeir茫o Preto ; SP ; Brazil
3. Department of Biology ; Faculty of Philosophy ; Sciences and Letters ; (USP) ; 14040-900 ; Ribeir茫o Preto ; SP ; Brazil
4. INSERM U1090 ; TAGC ; Aix-Marseille Universit茅 IFR137 ; 13100 ; Marseille ; France
5. Disciplines of Genetics and Molecular Biology ; Department of Morphology ; Physiology and Basic Pathology ; School of Dentistry of Ribeir茫o Preto ; USP ; 14040-904 ; Ribeir茫o Preto ; SP ; Brazil

关键词：Type 1 diabetes ; Type 2 diabetes ; Gestational diabetes ; Module map ; Immune cell signatures ; Transcriptome analysis

刊名：BMC Medical Genomics

出版年：2014

作者：Deborah A Hall (1)
Rachael C Birch (2)
Mathieu Anheim (3) (4) (5)
Aia E J酶nch (6)
Elizabeth Pintado (7)
Joanne O鈥橩eefe (8)
Julian N Trollor (13) (2)
Glenn T Stebbins (1)
Randi J Hagerman (9)
Stanley Fahn (10)
Elizabeth Berry-Kravis (1) (11)
Maureen A Leehey (12)

1. Department of Neurological Sciences ; Rush University ; Chicago ; IL ; USA
2. Department of Developmental Disability Neuropsychiatry ; School of Psychiatry ; University of New South Wales ; Sydney ; Australia
3. D茅partement de Neurologie ; H么pitaux Universitaires de Strasbourg ; H么pital de Hautepierre ; 67098 ; Strasbourg ; Cedex ; France
4. Institut de G茅n茅tique et de Biologie Mol茅culaire et Cellulaire (IGBMC) ; INSERM-U964/CNRS-UMR7104/Universit茅 de Strasbourg ; 67404 ; Illkirch ; France
5. F茅d茅ration de M茅decine Translationnelle de Strasbourg (FMTS) ; Universit茅 de Strasbourg ; Strasbourg ; France
6. Department of clinical Genetics ; Kennedy Center ; Rigshospitalet ; Copenhagen University Hospital ; Copenhagen ; Denmark
7. Department of Medical Biochemistry and Molecular Biology ; University of Seville ; Sevilla ; Spain
8. Department of Anatomy & Cell Biology ; Rush University ; Chicago ; IL ; USA
13. Centre for Healthy Brain Ageing ; University of New South Wales ; Sydney ; Australia
9. Department of Pediatrics & M.I.N.D. Institute ; University of California at Davis Medical Center ; Sacramento ; CA ; USA
10. Department of Neurology ; Columbia University ; New York ; NY ; USA
11. Departments of Pediatrics and Biochemistry ; Rush University ; Chicago ; IL ; USA
12. Department of Neurology ; University of Colorado at Denver ; Denver ; CO ; USA

关键词：FMR1 ; FXTAS ; Premutation ; Fragile X ; Tremor ; Ataxia

刊名：Journal of Neurodevelopmental Disorders

出版年：2014

作者：David Guenat (1) (2)
Samuel Quentin (3)
Carmelo Rizzari (4)
Catarina Lundin (5)
Tiziana Coliva (4)
Patrick Edery (6)
Helen Fryssira (7)
Laurent Bermont (8)
Christophe Ferrand (2)
Jean Soulier (3)
Christophe Borg (2) (9)
Pierre-Simon Rohrlich (10) (2)

1. Laboratory of Cellular and Molecular Biology ; University Hospital of Besan莽on ; 1 Bd Fleming ; Batiment Diaclone ; Besan莽on ; France
2. UMR1098 Inserm/EFS-BFC/University of Franche-Comte ; LabEx LipSTIC ; Besan莽on ; France
3. Saint-Louis Hospital APHP and Hematology University Institute (IUH) ; University Paris-Diderot ; Paris ; France
4. Department of Pediatrics ; San Gerardo Hospital ; University of Milano-Bicocca ; Monza ; Italy
5. Department of Clinical Genetics ; University and Regional Laboratories Region Skane ; Lund University ; Lund ; Sweden
6. Department of Genetics ; Hospices Civils de Lyon ; Bron ; France
7. Department of Medical Genetics ; Medical School ; University of Athens ; Athens ; Greece
8. Biochemistry Laboratory ; University hospital of Besan莽on ; Besan莽on ; France
9. Department of Medical Oncology and CIC-BT506 ; University Hospital of Besan莽on ; Besan莽on ; France
10. Department of Pediatric Hemato-Oncology ; University Hospital of Nice ; Nice ; France

关键词：Williams ; Beuren syndrome ; Non ; Hodgkin Lymphoma ; 7q11.23 ; Cancer predisposition ; DNA repair

刊名：Journal of Hematology & Oncology

出版年：2014

作者：Thomas Fleischer (1) (2)
Arnoldo Frigessi (3)
Kevin C Johnson (4) (5)
Hege Edvardsen (1)
Nizar Touleimat (6)
Jovana Klajic (1) (2) (7)
Margit LH Riis (7) (8) (9)
Vilde D Haakensen (1) (2)
Fredrik W盲rnberg (10)
Bj酶rn Naume (11)
脜slaug Helland (1) (11)
Anne-Lise B酶rresen-Dale (1) (2)
J枚rg Tost (6)
Brock C Christensen (4) (5)
Vessela N Kristensen (1) (2) (7)

1. Department of Genetics ; Institute for Cancer Research ; OUS Radiumhospitalet ; Montebello ; 0310 ; Oslo ; Norway
2. The K.G. Jebsen Center for Breast Cancer Research ; Institute for Clinical Medicine ; Faculty of Medicine ; University of Oslo ; 0318 ; Oslo ; Norway
3. Oslo Centre for Biostatistics and Epidemiology ; Department of Biostatistics ; University of Oslo and Research Support Services ; Oslo University Hospital ; 0424 ; Oslo ; Norway
4. Department of Community and Family Medicine ; Section of Biostatistics and Epidemiology ; Geisel School of Medicine at Dartmouth ; Hanover ; NH ; 03755-1404 ; USA
5. Department of Pharmacology and Toxicology ; Geisel School of Medicine at Dartmouth ; Hanover ; NH ; 03755-1404 ; USA
6. Institut de G茅nomique ; Laboratory for Epigenetics and Environment ; Centre National de G茅notypage ; CEA ; 91000 ; Evry ; France
7. Department of Clinical Molecular Biology and Laboratory Science (EpiGen) ; Division of Medicine ; Akershus University hospital ; 1476 ; L酶renskog ; Norway
8. Department of Surgery ; Akershus University Hospital ; 1478 ; L酶renskog ; Norway
9. Department of Breast and Endocrine Surgery ; Oslo University Hospital ; Ullev氓l ; 0450 ; Oslo ; Norway
10. Department of Surgery ; Uppsala Academic Hospital ; Uppsala University ; Uppsala ; SE-75185 ; Sweden
11. Department of Oncology ; Oslo University Hospital Radiumhospitalet ; 0379 ; Oslo ; Norway

刊名：Genome Biology

出版年：2014