The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

Autor: Pierpont EI; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Bennett AM; Department of Pharmacology, Yale School of Medicine, New Haven, Connecticut, USA., Schoyer L; RASopathies Network, Los Angeles, California, USA., Stronach B; RASopathies Network, Los Angeles, California, USA., Anschutz A; RASopathies Network, Los Angeles, California, USA., Borrie SC; KU Leuven, Laboratory for the Research of Neurodegenerative Diseases, Leuven, Belgium., Briggs B; School of Medicine, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA., Burkitt-Wright E; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust and University of Manchester, Manchester, UK., Castel P; Department of Biochemistry & Molecular Pharmacology, NYU Grossman School of Medicine, New York, New York, USA., Cirstea IC; Institute of Comparative Molecular Endocrinology, Ulm University, Ulm, Germany.; Institute of Applied Physiology, Ulm University, Ulm, Germany., Draaisma F; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Ellis M; RASopathies Network, Los Angeles, California, USA., Fear VS; Translational Genetics, Precision Health, Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia., Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland, USA., Flex E; Department of Oncology and Molecular Medicine, Instituo Superiore di Sanità, Rome, Italy., Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA., Green T; Division of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California, USA., Gripp KW; Division of Medical Genetics, Department of Pediatrics, Nemours Children's Hospital, Orlando, Florida, USA., Khoshkhoo S; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kieran MW; Research and Development, Day One Biopharmaceuticals, Brisbane, California, USA., Kleemann K; Clinic for Cardiothoracic and Vascular Surgery, University Medical Center Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Göttingen, Göttingen, Germany., Klein-Tasman BP; Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin, USA., Kontaridis MI; Department of Biomedical Research and Translational Medicine, Masonic Medical Research Institute, Utica, New York, USA.; Division of Cardiology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, USA., Kruszka P; GeneDx, Gaithersburg, Maryland, USA., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A.Gemelli, IRCCS, Rome, Italy., Liu CZ; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA., Merchant N; Division of Endocrinology, Children's National Hospital, Washington, DC, USA., Magoulas PL; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA., Moertel C; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Prada CE; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Rauen KA; Department of Pediatrics, Division of Genomic Medicine, University of California, Davis, Davis, California, USA., Roelofs R; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands., Rossignol R; Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Sevilla C; Parent Advocate, CFC Syndrome, Lombard, Illinois, USA., Sevilla G; Self Advocate, CFC Syndrome, Lombard, Illinois, USA., Sheedy R; Parent Advocate, Costello Syndrome, Centerton, Arkansas, USA., Stieglitz E; Department of Pediatrics, Benioff Children's Hospital, University of California, Oakland, California, USA., Sun D; Cancer Biology & Genetics Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Tiemens D; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., White F; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Wingbermühle E; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands., Wolf C; Department of Pediatric Cardiology and Congenital Heart Disease, German Heart Center Munich, Technical University Munich, Munich, Germany., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Andelfinger G; Department of Anatomy and Cell Biology, McGill School of Biomedical Sciences, Montreal, Quebec, Canada.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63477. Date of Electronic Publication: 2023 Nov 15.

The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.

Autor: Tiemens, Dagmar K.^1,2 (AUTHOR), Kleimeier, Lotte¹ (AUTHOR), Leenders, Erika³ (AUTHOR), Wingbermühle, Ellen^3,4,5 (AUTHOR), Roelofs, Renee L.^4,5 (AUTHOR), Sibbles, Barbara⁶ (AUTHOR), Oostwegel, Floor S.M.⁷ (AUTHOR), Vroonland, Eva⁸ (AUTHOR), van Leeuwen, Conny² (AUTHOR), Niessen, Hanneke² (AUTHOR), Sonnega, Paul² (AUTHOR), Duursma, Anniek² (AUTHOR), Willemsen, Michel A. A. P.^1,9 (AUTHOR), Draaisma, Jos M. T.¹ (AUTHOR) Jos.draaisma@radboudumc.nl, Pittens, Carina A.C.M.⁷ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 7/21/2023, Vol. 18 Issue 1, p1-13. 13p.

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Clinical overview on RASopathies.

Autor: Zenker, Martin

Publikováno v: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Dec2022, Vol. 190 Issue 4, p414-424, 11p

Treating the “Illness” of Cherubism and Craniofacial Fibrous Dysplasia: Addressing the Stigma of Craniofacial Difference.

Autor: Konradi, Amanda

Publikováno v: Journal of Law, Medicine & Ethics; Winter2017, Vol. 45 Issue 4, p582-595, 14p