Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

Autor: Plotkin SR; Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, MA. Electronic address: splotkin@mgh.harvard.edu., Messiaen L; Department of Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL., Legius E; Department of Human Genetics, Member of ERN GENTURIS, KU Leuven and University Hospital, Leuven, Belgium., Pancza P; Children's Tumor Foundation, New York, NY., Avery RA; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA., Blakeley JO; Comprehensive Neurofibromatosis Center, Johns Hopkins Medicine, The Johns Hopkins Hospital, Baltimore, MD., Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic College of Medicine and Science, Rochester, MN., Ferner R; Neurology, Guy's and St. Thomas' Hospital and NHS Trust, London, United Kingdom., Fisher MJ; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA., Friedman JM; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada., Giovannini M; Department of Head and Neck Surgery, David Geffen School of Medicine at UCLA and Jonsson Comprehensive Cancer Center (JCCC), University of California, Los Angeles, CA., Gutmann DH; Department of Neurology, Washington University School of Medicine in St. Louis, St. Louis, MO., Hanemann CO; Institute of Translational and Stratified Medicine, Peninsula Medical School, University of Plymouth, Plymouth, United Kingdom., Kalamarides M; Department of Neurosurgery, Hospital Pitie-Salpetriere, Sorbonne Université, Paris, France., Kehrer-Sawatzki H; Institute of Human Genetics, University of Ulm, Ulm, Germany., Korf BR; Department of Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL., Mautner VF; Department of Neurology, University Hospital of Hamburg-Eppendorf, Hamburg, Germany., MacCollin M; Pediatric Neurology, Bend, OR., Papi L; The Department of Experimental and Clinical, Medical Genetics Unit, Biomedical Sciences 'Mario Serio,' University of Florence, Florence, Italy., Rauen KA; Department of Pediatrics, University of California Davis, Sacramento, CA., Riccardi V; The Neurofibromatosis Institute, La Crescenta, CA., Schorry E; Medical Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Smith MJ; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Member of ERN GENTURIS, Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK., Stemmer-Rachamimov A; Department of Pathology, Massachusetts General Hospital, Boston, MA., Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA., Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, MA., Viskochil D; Medical Genetics, University of Utah, Salt Lake City, UT., Wimmer K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Yohay K; Departments of Neurology and Pediatrics, NYU Langone Health, New York, NY., Huson SM; Clinical Genetics, (Formerly) Manchester Center for Genomic Medicine, Manchester University Hospitals, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Wolkenstein P; Service de Dermatologie, Assistance Publique-Hôpital Paris (AP-HP), Hôpital Henri-Mondor, UPEC, Créteil, France., Evans DG; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Member of ERN GENTURIS, Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1967-1977. Date of Electronic Publication: 2022 Jun 09.

Expression, DNA methylation pattern and transcription factor EPB41L3 in gastric cancer: a study of 262 cases.

Autor: Cai, Mengdi^1,2 (AUTHOR), Guo, Haonan¹ (AUTHOR), Wang, Dong¹ (AUTHOR), Zhao, Tie¹ (AUTHOR), Liang, Xiao² (AUTHOR), Li, Jiaqi² (AUTHOR), Cui, XiaoBo² (AUTHOR), Fu, Songbin² (AUTHOR), Yu, Jingcui^1,2 (AUTHOR) yujingcui@ems.hrbmu.edu.cn

Publikováno v: Cell Communication & Signaling. 10/1/2024, Vol. 22 Issue 1, p1-14. 14p.

Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas.

Autor: Kluwe, L., Mautner, V., Heinrich, B., Dezube, R., Jacoby, L. B., Friedrich, R. E., MacCollin, M.

Publikováno v: Journal of Medical Genetics; Feb2003, Vol. 40 Issue 2, p109-114, 6p, 3 Charts, 2 Graphs

Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.

Autor: Wilson, Ella¹ (AUTHOR) ella.wilson@monashivfgroup.com, Leventer, Richard^1,2,3,4 (AUTHOR), Cunningham, Chloe^1,2,4,5 (AUTHOR), de Silva, Michelle G.^1,2,5 (AUTHOR), Hodgson, Jan¹ (AUTHOR), Uebergang, Eloise^2,3 (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 9/5/2024, Vol. 19 Issue 1, p1-10. 10p.

Current Understanding of the Role of Adenosine Receptors in Cancer.

Autor: Venugopala, Katharigatta Narayanaswamy^1,2 (AUTHOR) kvenugopala@kfu.edu.sa, Buccioni, Michela³ (AUTHOR) michela.buccioni@unicam.it

Publikováno v: Molecules. Aug2024, Vol. 29 Issue 15, p3501. 31p.