换一批
换一批Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
作者：
Scott R,Plotkin [1]
;
Ludwine,Messiaen [2]
;
Eric,Legius [3]
;
Patrice,Pancza [4]
;
Robert A,Avery [5]
;
Jaishri O,Blakeley [6]
;
Dusica,Babovic-Vuksanovic [7]
;
Rosalie,Ferner [8]
;
Michael J,Fisher [9]
;
Jan M,Friedman [10]
;
Marco,Giovannini [11]
;
David H,Gutmann [12]
;
Clemens Oliver,Hanemann [13]
;
Michel,Kalamarides [14]
;
Hildegard,Kehrer-Sawatzki [15]
;
Bruce R,Korf [2]
;
Victor-Felix,Mautner [16]
;
Mia,MacCollin [17]
;
Laura,Papi [18]
;
Katherine A,Rauen [19]
;
Vincent,Riccardi [20]
;
Elizabeth,Schorry [21]
;
Miriam J,Smith [22]
;
Anat,Stemmer-Rachamimov [23]
;
David A,Stevenson [24]
;
Nicole J,Ullrich [25]
;
David,Viskochil [26]
;
Katharina,Wimmer [27]
;
Kaleb,Yohay [28]
;
International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC) [29]
;
Susan M,Huson [30]
;
Pierre,Wolkenstein [22]
;
D Gareth,Evans
作者单位：
Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, MA. Electronic address: splotkin@mgh.harvard.edu.
[1]
Department of Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL.
[2]
Department of Human Genetics, Member of ERN GENTURIS, KU Leuven and University Hospital, Leuven, Belgium.
[3]
Children's Tumor Foundation, New York, NY.
[4]
Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA.
[5]
Comprehensive Neurofibromatosis Center, Johns Hopkins Medicine, The Johns Hopkins Hospital, Baltimore, MD.
[6]
Department of Clinical Genomics, Mayo Clinic College of Medicine and Science, Rochester, MN.
[7]
Neurology, Guy's and St. Thomas' Hospital and NHS Trust, London, United Kingdom.
[8]
Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA.
[9]
Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada.
[10]
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.
[11]
Department of Neurology, Washington University School of Medicine in St. Louis, St. Louis, MO.
[12]
Institute of Translational and Stratified Medicine, Peninsula Medical School, University of Plymouth, Plymouth, United Kingdom.
[13]
Department of Neurosurgery, Hospital Pitie-Salpetriere, Sorbonne Université, Paris, France.
[14]
Institute of Human Genetics, University of Ulm, Ulm, Germany.
[15]
Department of Neurology, University Hospital of Hamburg-Eppendorf, Hamburg, Germany.
[16]
Pediatric Neurology, Bend, OR.
[17]
The Department of Experimental and Clinical, Medical Genetics Unit, Biomedical Sciences "Mario Serio," University of Florence, Florence, Italy.
[18]
Department of Pediatrics, University of California Davis, Sacramento, CA.
[19]
The Neurofibromatosis Institute, La Crescenta, CA.
[20]
Medical Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
[21]
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.
[22]
Department of Pathology, Massachusetts General Hospital, Boston, MA.
[23]
Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA.
[24]
Department of Neurology, Boston Children's Hospital, Boston, MA.
[25]
Medical Genetics, University of Utah, Salt Lake City, UT.
[26]
Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
[27]
Departments of Neurology and Pediatrics, NYU Langone Health, New York, NY.
[28]
Clinical Genetics, (Formerly) Manchester Center for Genomic Medicine, Manchester University Hospitals, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
[29]
Service de Dermatologie, Assistance Publique-Hôpital Paris (AP-HP), Hôpital Henri-Mondor, UPEC, Créteil, France.
[30]
主题词
多数赞同(Consensus);人类(Humans);神经鞘瘤(Neurilemmoma);神经纤维瘤病(Neurofibromatoses);神经纤维瘤病1型(Neurofibromatosis 1);神经纤维瘤病2型(Neurofibromatosis 2);皮肤肿瘤(Skin Neoplasms)
DOI
10.1016/j.gim.2022.05.007
PMID
35674741
发布时间
2022-10-29
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Genetics in medicine
Genetics in medicine
1967-1977页
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