Quantitative muscle ultrasound: a potential tool for assessment of disease activity in juvenile dermatomyositis.

Autor: Bhansing, KJ¹ (AUTHOR) k.bhansing@reuma.umcn.nl, Hoppenreijs, EP² (AUTHOR), Janssen, AJ³ (AUTHOR), van Royen-Kerkhof, A⁴ (AUTHOR), Nijhuis-Van der Sanden, MW⁵ (AUTHOR), van Riel, PLCM¹ (AUTHOR), Pillen, S⁶ (AUTHOR)

Publikováno v: Scandinavian Journal of Rheumatology. Aug2014, Vol. 43 Issue 4, p339-341. 3p. 1 Chart, 1 Graph.

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Autor: Arts P; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Simons A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., AlZahrani MS; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Yilmaz E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Medical Biology, Faculty of Medicine, Akdeniz University, Antalya, Turkey., AlIdrissi E; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., van Aerde KJ; Department of Pediatric immunology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Alenezi N; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., AlGhamdi HA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., AlJubab HA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Al-Hussaini AA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., AlManjomi F; Department of Pediatric Hematology and Oncology, Comprehensive Cancer center, King Fahad Medical City, Riyadh, Saudi Arabia., Alsaad AB; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alsaleem B; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Andijani AA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Asery A; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Ballourah W; Department of Pediatric Hematology and Oncology, Comprehensive Cancer center, King Fahad Medical City, Riyadh, Saudi Arabia., Bleeker-Rovers CP; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Deuren M; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van der Flier M; Department of Pediatric immunology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pediatric Infectious Diseases and Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Habazi MK; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Hehir-Kwa JY; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Henriet SS; Department of Pediatric immunology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoppenreijs EP; Department of Pediatric Rheumatology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Hortillosa S; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Kerkhofs CH; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Keski-Filppula R; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu, Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland., Lelieveld SH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Lone K; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., MacKenzie MA; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands., Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Moilanen J; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu, Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland., Nelen M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Ten Oever J; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Potjewijd J; Department of Clinical Immunology, Maastricht University Medical Center, Maastricht, The Netherlands., van Paassen P; Department of Clinical Immunology, Maastricht University Medical Center, Maastricht, The Netherlands., Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Simon A; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Stokowy T; Department of Clinical Science, Department of Informatics, Computational Biology Unit, University of Bergen, 5020, Bergen, Norway., van de Vorst M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Wagner A; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., van Well GTJ; Department of Pediatrics, School for Nutrition and Translational Research in Metabolism (NUTRIM), Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Zafeiropoulou D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Veltman JA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK., van Zelst-Stams WAG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Faqeih EA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., van de Veerdonk FL; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Netea MG; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. alexander.hoischen@radboudumc.nl.; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. alexander.hoischen@radboudumc.nl.; Department of Human Genetics and Department of Internal Medicine, Radboud University Medical Center, P.O. Box 9101, 6500, HB, Nijmegen, The Netherlands. alexander.hoischen@radboudumc.nl.

Publikováno v: Genome medicine [Genome Med] 2019 Jun 17; Vol. 11 (1), pp. 38. Date of Electronic Publication: 2019 Jun 17.

Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Autor: Peters B; Department of Paediatrics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands. Brmpeters@gmail.com., Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands., Fuijkschot J; Department of Paediatrics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands., Reimer A; Department Paediatric Cardiology, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands., van der Flier M; Department of Paediatrics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands., Lugtenberg D; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands., Hoppenreijs EP; Department of Paediatrics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands.; Paediatric Rheumatology, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands.; Sint Maartenskliniek, Hengstdal 3, Ubbergen, 6574 NA, The Netherlands.

Publikováno v: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2016 May 25; Vol. 14 (1), pp. 32. Date of Electronic Publication: 2016 May 25.

CD226 (DNAM-1) is associated with susceptibility to juvenile idiopathic arthritis.

Autor: Reinards TH; Department of Pediatrics/Pediatric Rheumatology, Leiden University Medical Center, Leiden, The Netherlands., Albers HM; Department of Pediatrics/Pediatric Rheumatology, Leiden University Medical Center, Leiden, The Netherlands., Brinkman DM; Department of Pediatrics/Pediatric Rheumatology, Rijnland Hospital, Leiderdorp, The Netherlands., Kamphuis SS; Department of Pediatrics/Pediatric Rheumatology, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands., van Rossum MA; Department of Pediatrics/Pediatric Rheumatology, Academic Medical Centre/Emma Children's Hospital and Reade (Jan van Breemen location), Amsterdam, The Netherlands., Girschick HJ; Vivantes Children's Hospital, Berlin-Friedrichshain, Germany., Wouters C; University Hospital Gasthuisberg, Leuven, Belgium., Hoppenreijs EP; Department of Pediatrics/Pediatric Rheumatology, St Maartenskliniek and Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands., Saurenmann RK; Zürich University Children's Hospital, Zürich, Switzerland., Hinks A; Arthritis Research UK Epidemiology Unit, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK., Ellis JA; Department of Pediatrics, The University of Melbourne, Melbourne, Australia Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia., Bakker E; Centre for Human and Clinical Genetics/Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, The Netherlands., Verduijn W; Department of Immunohematology and Bloodtransfusion, Leiden University Medical Center, Leiden, The Netherlands., Slagboom P; Department of Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands., Huizinga TW; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands., Toes RE; Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands., Houwing-Duistermaat JJ; Department of Medical Statistics, Leiden University Medical Center, Leiden, The Netherlands., ten Cate R; Department of Pediatrics/Pediatric Rheumatology, Leiden University Medical Center, Leiden, The Netherlands., Schilham MW; Department of Pediatrics/Laboratory for Immunology, Leiden University Medical Center, Leiden, The Netherlands.

Publikováno v: Annals of the rheumatic diseases [Ann Rheum Dis] 2015 Dec; Vol. 74 (12), pp. 2193-8. Date of Electronic Publication: 2014 Jul 23.

Methotrexate in pediatric plaque-type psoriasis: Long-term daily clinical practice results from the Child-CAPTURE registry.

Autor: van Geel MJ; a Department of Dermatology ., Oostveen AM; a Department of Dermatology ., Hoppenreijs EP; b Department of Pediatric Rheumatology , and., Hendriks JC; c Department of Health Evidence , Radboud university medical center , Nijmegen , the Netherlands., van de Kerkhof PC; a Department of Dermatology ., de Jong EM; a Department of Dermatology ., Seyger MM; a Department of Dermatology .

Publikováno v: The Journal of dermatological treatment [J Dermatolog Treat] 2015 Oct; Vol. 26 (5), pp. 406-12. Date of Electronic Publication: 2015 Jan 20.