换一批
换一批Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
作者：
Magdalena Koczkowska [1]
;
Yunjia Chen [2]
;
Tom Callens [3]
;
Alicia Gomes [4]
;
Angela Sharp [5]
;
Sherrell Johnson [6]
;
Meng-Chang Hsiao [7]
;
Zhenbin Chen [8]
;
Meena Balasubramanian [9]
;
Christopher P. Barnett [10]
;
Troy A. Becker [11]
;
Shay Ben-Shachar [12]
;
Debora R. Bertola [13]
;
Jaishri O. Blakeley [14]
;
Emma M.M. Burkitt-Wright [15]
;
Alison Callaway [16]
;
Melissa Crenshaw [17]
;
Karin S. Cunha [18]
;
Mitch Cunningham [19]
;
Maria D. D’Agostino [20]
;
Karin Dahan [21]
;
Alessandro De Luca [22]
;
Anne Destrée [23]
;
Radhika Dhamija [24]
;
Marica Eoli [25]
;
D. Gareth R. Evans [26]
;
Patricia Galvin-Parton [27]
;
Jaya K. George-Abraham [28]
;
Karen W. Gripp [29]
;
Jose Guevara-Campos [30]
;
Neil A. Hanchard [31]
;
Concepcion Hernández-Chico [32]
;
LaDonna Immken [33]
;
Sandra Janssens [34]
;
Kristi J. Jones [35]
;
Beth A. Keena [36]
;
Aaina Kochhar [37]
;
Jan Liebelt [38]
;
Arelis Martir-Negron [39]
;
Maurice J. Mahoney [40]
;
Isabelle Maystadt [41]
;
Carey McDougall [42]
;
Meriel McEntagart [43]
;
Nancy Mendelsohn [44]
;
David T. Miller [45]
;
Geert Mortier [46]
;
Jenny Morton [47]
;
John Pappas [48]
;
Scott R. Plotkin ;
Dinel Pond ;
Kenneth Rosenbaum ;
Karol Rubin ;
Laura Russell ;
Lane S. Rutledge ;
Veronica Saletti ;
Rhonda Schonberg ;
Allison Schreiber ;
Meredith Seidel ;
Elizabeth Siqveland ;
David W. Stockton ;
Eva Trevisson ;
Nicole J. Ullrich ;
Meena Upadhyaya ;
Rick van Minkelen ;
Helene Verhelst ;
Margaret R. Wallace ;
Yoon-Sim Yap ;
Elaine Zackai ;
Jonathan Zonana ;
Vickie Zurcher ;
Kathleen Claes ;
Yolanda Martin ;
Bruce R. Korf ;
Eric Legius ;
Ludwine M. Messiaen
作者单位：
Department of Genetics, Stony Brook Children’s, Stony Brook, NY 11794, USA
[1]
Clinical Genetics Unit, Department of Women’s and Children’s Health, University of Padova, Padova
[2]
Department of Genetics, Hospital Universitario Ramón y Cayal, Institute of Health Research (IRYCIS
[3]
Division of Human Genetics, Children’s Hospital of Philadelphia, University of Pennsylvania School
[4]
Department of Pediatrics, Clinical Genetic Services, NYU School of Medicine, New York, NY 10016, USA
[5]
Division of Cancer and Genetics, Cardiff University, Cardiff CF14 4XN, UK
[6]
Women’s and Children’s Hospital/SA Pathology, North Adelaide, SA 5006, Australia
[7]
Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury SP2 8BJ, UK
[8]
Multidisciplinary Neurofibromatosis Program, Boston Children’s Hospital, Boston, MA 02115, USA
[9]
Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA
[10]
Molecular Genetics Unit, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo 71013
[11]
Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham B15 2TG, UK
[12]
Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE 19803, USA
[13]
Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, MA 02114, USA
[14]
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GE, the Netherlands
[15]
Dell Children’s Medical Center of Central Texas, Austin, TX 78723, USA
[16]
Department of Clinical Genetics, the Children’s Hospital at Westmead, Westmead, NSW 2145, Australia
[17]
Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp 2650
[18]
St George’s University Hospitals NHS Foundation Trust, London SW17 0QT, UK
[19]
Department of Medical Genetics, McGill University Health Centre, Montréal, QC H4A 3J1, Canada
[20]
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA
[21]
University of Minnesota Health, Minneapolis, MN 55404, USA
[22]
Developmental Neurology Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Milan 20133
[23]
The Genetic Institute, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv
[24]
Department of Clinical Genomics and Neurology, Mayo Clinic, Phoenix, AZ 85259, USA
[25]
Department of Human Genetics, KU Leuven - University of Leuven, Leuven 3000, Belgium
[26]
Pediatrics Service, Felipe Guevara Rojas Hospital, University of Oriente, El Tigre-Anzoátegui
[27]
Department of Genetics, Valley Children’s Healthcare, Madera, CA 93636, USA
[28]
Department of Neurology, Boston Children’s Hospital, Boston, MA 02115, USA
[29]
Genomic Medicine, Division of Evolution and Genomic Sciences, Manchester Academic Health Sciences
[30]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
[31]
Department of Molecular Genetics & Microbiology, University of Florida College of Medicine
[32]
Division of Genetics and Metabolism, Children’s National Health System, Washington, DC 20010, USA
[33]
Department of Pathology, School of Medicine, Universidade Federal Fluminense, Niterói 24220-900
[34]
Division of Medical Oncology, National Cancer Centre Singapore, Singapore 169610, Singapore
[35]
Genomics Medicine Program, Children’s Hospital Minnesota, Minneapolis, MN 55404, USA
[36]
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
[37]
Division of Genetic, Genomic and Metabolic Disorders, Children’s Hospital of Michigan, Detroit
[38]
Division of Clinical Genetics, Center for Genomic Medicine, Miami Cancer Institute, Miami, FL 33176
[39]
Center for Medical Genetics, Ghent University Hospital, Ghent 9000, Belgium
[40]
Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR
[41]
Department of Pediatrics, University of S?o Paulo, S?o Paulo 05403-000, Brazil
[42]
Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield S10 2TH
[43]
Unit of Molecular Neuro-Oncology, IRCCS Foundation, Carlo Besta Neurological Institute, Milan 20133
[44]
Medical Genetics, John Hopkins All Children’s Hospital, St. Petersburg, FL 33701, USA
[45]
Department of Paediatrics, Division of Paediatric Neurology, Ghent University Hospital, Ghent 9000
[46]
Center for Human Genetics, Institute of Pathology and Genetics (IPG), Gosselies 6041, Belgium
[47]
Department of Genetics, Yale University, New Haven, CT 06520, USA
[48]
发布时间
2019-07-27
- 浏览1
The American Journal of Human Genetics
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