Osteogenesis imperfecta: shifting paradigms in pathophysiology and care in children.

Autor: Stasek S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Zaucke F; Department of Trauma Surgery and Orthopedics, Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, University Hospital Frankfurt, Goethe University, Frankfurt/Main, Germany., Hoyer-Kuhn H; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Etich J; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Reincke S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Arndt I; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Rehberg M; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Semler O; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Dec 16. Date of Electronic Publication: 2024 Dec 16.

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.

Autor: Keller RB; Department of Pathology, University of Washington, Seattle, Washington, USA., Tran TT; Department of Pathology, University of Washington, Seattle, Washington, USA., Pyott SM; Department of Pathology, University of Washington, Seattle, Washington, USA., Pepin MG; Department of Pathology, University of Washington, Seattle, Washington, USA., Savarirayan R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Nickerson DA; Center for Mendelian Genomics, University of Washington, Seattle, Washington, USA., Bamshad MJ; Center for Mendelian Genomics, University of Washington, Seattle, Washington, USA., Byers PH; Department of Pathology, University of Washington, Seattle, Washington, USA.; Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Apr; Vol. 20 (4), pp. 411-419. Date of Electronic Publication: 2017 Aug 17.

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.

Autor: Vandervore L; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.; Center for Medical Genetics, UZ Brussel, Brussels, Belgium., Stouffs K; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.; Center for Medical Genetics, UZ Brussel, Brussels, Belgium., Tanyalçin I; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.; Center for Medical Genetics, UZ Brussel, Brussels, Belgium., Vanderhasselt T; Department of Radiology, UZ Brussel, Brussels, Belgium., Roelens F; Department of Pediatric Neurology, AZ Delta, Roeselare, Belgium., Holder-Espinasse M; Department of Clinical Genetics, Guy's Hospital, London, UK., Jørgensen A; Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Pepin MG; Department of Pathology, University of Washington, Seattle, Washington, USA., Petit F; Service de Génétique Clinique, Hôpital J. de Flandre, Lille, France., Khau Van Kien P; Unité de Génétique Médicale, Nîmes University Hospital,CHU Carémeau, Nîmes, France., Bahi-Buisson N; Institut Imagine, Université Paris Descartes - Sorbonne Paris Cités, Paris, France., Lissens W; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.; Center for Medical Genetics, UZ Brussel, Brussels, Belgium., Gheldof A; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.; Center for Medical Genetics, UZ Brussel, Brussels, Belgium., Byers PH; Department of Pathology, University of Washington, Seattle, Washington, USA.; Department of Medicine (Medical Genetics), University of Washington, Seattle, USA., Jansen AC; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.; Department of Pediatrics, Pediatric Neurology Unit, UZ Brussel, Brussels, Belgium.

Publikováno v: Journal of medical genetics [J Med Genet] 2017 Jun; Vol. 54 (6), pp. 432-440. Date of Electronic Publication: 2017 Mar 03.

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What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.

Autor: Pepin MG, Byers PH

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2015 Dec; Vol. 169 (4), pp. 307-13. Date of Electronic Publication: 2015 Nov 14.