Hyperinsulinisme par mutation activatrice de la glucokinase diagnostiqué à l’âge adulte : description de 9 cas

Autor: Humbert, L., Mention, K., Jannin, A., Dobbelaere, D., Guemann, A.S., Dessein, A.F., Lemaitre, M., Fajardy, I., Vantyghem, M.C., Douillard, C.

Publikováno v: In Annales d'Endocrinologie October 2023 84(5):516-517

Whole genome sequencing for USH2A -associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Autor: Reurink J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Weisschuh N; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Garanto A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Pediatrics, Amalia's Children Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Dockery A; The School of Genetics & Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, the Netherlands., Fajardy I; Centre de Biologie Pathologie Génétique, CHU de Lille, Lille, France., Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Wissinger B; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Farrar GJ; The School of Genetics & Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland., Ben-Yosef T; The Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Pfiffner FK; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland., Berger W; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.; Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland.; Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland., Weener ME; CRO Oftalmic, Moscow, Russia., Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Sharon D; Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Salameh M; Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Offenheim A; Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Heon E; Departments of Ophthalmology and Vision Sciences, The Hospital for Sick Children, The University of Toronto, Toronto, ON, Canada., Girotto G; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy.; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy., Gasparini P; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy.; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy., Morgan A; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy., Bergen AA; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands.; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands., Ten Brink JB; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands., Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands., Tranebjærg L; Department of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, 2600 Glostrup, Denmark.; Institute of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark., Rendtorff ND; Department of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, 2600 Glostrup, Denmark., Vermeer S; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Smits JJ; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center of Utrecht, Utrecht, the Netherlands., Pennings RJE; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., Aben M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Oostrik J; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Corominas Galbany J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kroes HY; Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center of Utrecht, Utrecht, the Netherlands., Phan M; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Rijnstate Hospital, Arnhem, the Netherlands., van Zelst-Stams WAG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Thiadens AAHJ; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands., Verheij JBGM; Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., van Schooneveld MJ; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands., de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Li CHZ; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Hoyng CB; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Kremer H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., van Wijk E; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

Publikováno v: HGG advances [HGG Adv] 2023 Jan 18; Vol. 4 (2), pp. 100181. Date of Electronic Publication: 2023 Jan 18 (Print Publication: 2023).

Polymorphisms of the Receptor of Advanced Glycation Endproducts (RAGE) and the development of nephropathy in type 1 diabetic patients

Autor: Prevost, G, Fajardy, I, Besmond, C, Balkau, B, Tichet, J, Fontaine, P, Danze, PM, Marre, M

Publikováno v: In Diabetes and Metabolism 2005 31(1):35-39

Kinetics of diabetes-associated autoantibodies after sequential intraportal islet allograft associated with kidney transplantation in type 1 diabetes

Autor: Vantyghem, MC, Fajardy, I, Pigny, P, Noel, C, Kerr-Conte, J, Gmyr, V, Vandewalle, B, Proye, C, Pattou, F

Publikováno v: In Diabetes and Metabolism 2003 29(6):595-601

Monogenic Defects of Beta Cell Function: From Clinical Suspicion to Genetic Diagnosis and Management of Rare Types of Diabetes.

Autor: Serbis, Anastasios^1,2,3 (AUTHOR) agalli@auth.gr, Kantza, Evanthia¹ (AUTHOR) eksiomou@uoi.gr, Siomou, Ekaterini¹ (AUTHOR), Galli-Tsinopoulou, Assimina³ (AUTHOR), Kanaka-Gantenbein, Christina⁴ (AUTHOR) chriskan@med.uoa.gr, Tigas, Stelios² (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10501. 18p.