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2014, Colloquium series on genomic and molecular medicine, ISBN 9781615046447, Volume 5
Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This... 
genetics | Neurofibromatosis 1
Web Resource
Nature, ISSN 0028-0836, 2014, Volume 514, Issue 7521, pp. 247 - 251
The polycomb repressive complex 2 (PRC2) exerts oncogenic effects in many tumour types(1). However, loss-of-function mutations in PRC2 components occur in a... 
SUPPRESSOR | GENE | MULTIDISCIPLINARY SCIENCES | MICE | NF1 MICRODELETION PATIENTS | MUTATIONS | BET BROMODOMAIN INHIBITION | CANCER | TUMORS | NEUROFIBROMATOSIS TYPE-1 | EZH2 | Chromatin - metabolism | Transcription, Genetic - drug effects | Polycomb Repressive Complex 2 - genetics | Humans | Transcription Factors - deficiency | ras Proteins - metabolism | Neurofibromin 1 - deficiency | Glioma - genetics | Neoplasms - genetics | Melanoma - genetics | Tumor Suppressor Proteins - deficiency | Glioma - pathology | Nerve Sheath Neoplasms - pathology | Nuclear Proteins - deficiency | Tumor Suppressor Proteins - genetics | Epigenesis, Genetic - drug effects | Cell Death - drug effects | Gene Expression Regulation, Neoplastic - drug effects | Nuclear Proteins - genetics | Chromatin - drug effects | Nerve Sheath Neoplasms - drug therapy | Disease Models, Animal | Triazoles - therapeutic use | Nerve Sheath Neoplasms - genetics | Tumor Suppressor Proteins - metabolism | Mitogen-Activated Protein Kinase Kinases - antagonists & inhibitors | ras Proteins - antagonists & inhibitors | Nuclear Proteins - metabolism | Transcription Factors - antagonists & inhibitors | Melanoma - pathology | Transcription Factors - genetics | Azepines - therapeutic use | Neoplasms - drug therapy | Azepines - pharmacology | Transcription Factors - metabolism | Triazoles - pharmacology | Animals | Polycomb Repressive Complex 2 - deficiency | Melanoma - drug therapy | Nuclear Proteins - antagonists & inhibitors | Mice | Neoplasms - pathology | Polycomb Repressive Complex 2 - metabolism | Chromatin - genetics | Neurofibromin 1 - genetics | Glioma - drug therapy | Epigenetic inheritance | Ras genes | Genetic transcription | Research | Gliomas | Studies | Mutation | Genes | Tumors | Defects | Index Medicus
Journal Article
Expert Opinion on Medical Diagnostics, ISSN 1753-0059, 07/2010, Volume 4, Issue 4, pp. 307 - 322
Importance of the field: Neurofibromatosis type 1 (NF1) is a familial tumour predisposition syndrome with no current treatment regime. Neurofibromin, the NF1... 
malignant peripheral nerve sheath tumours | SPRED1 | modifying genes | mutation analysis | RASopathy | NF1 | neurofibromas | molecular diagnosis | Modifying genes | Molecular diagnosis | Mutation analysis | Neurofibromas | Malignant peripheral nerve sheath tumours
Journal Article
02/2014, Colloquium Series on Genomic and Molecular Medicine, ISBN 1615046445, 81
Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This... 
Computers | Natural Language Processing | Neurofibromatosis
eBook
Journal of Medical Genetics, ISSN 0022-2593, 02/2007, Volume 44, Issue 2, pp. 81 - 88
Journal Article
Human Mutation, ISSN 1059-7794, 2010, Volume 31, Issue 6, pp. E1506 - E1518
Journal Article
1998, Human molecular genetics series, ISBN 9781859961919, xv, 230
Book
by Koczkowska, Magdalena and Chen, Zhenbin and Chen, Yunjia and Callens, Tom and Gomes, Alicia and Sharp, Angela and Johnson, Sherrell and Hsiao, Meng-Chang and Balasubramanian, Meena and Barnett, Christopher P and Becker, Troy A and Ben-Shachar, Shay and Bertola, Debora R and Blakeley, Jaishri O and Burkitt-Wright, Emma M.M and Callaway, Alison and Crenshaw, Melissa and Cunha, Karin S and Cunningham, Mitch and D’Agostino, Maria D and Dahan, Karin and De Luca, Alessandro and Destrée, Anne and Dhamija, Radhika and Eoli, Marica and Evans, D. Gareth R and Galvin-Parton, Patricia and George-Abraham, Jaya K and Gripp, Karen W and Guevara-Campos, Jose and Hanchard, Neil A and Hernández-Chico, Concepcion and Immken, LaDonna and Janssens, Sandra and Jones, Kristi J and Keena, Beth A and Kochhar, Aaina and Liebelt, Jan and Martir-Negron, Arelis and Mahoney, Maurice J and Maystadt, Isabelle and McDougall, Carey and McEntagart, Meriel and Mendelsohn, Nancy and Miller, David T and Mortier, Geert and Morton, Jenny and Pappas, John and Plotkin, Scott R and Pond, Dinel and Rosenbaum, Kenneth and Rubin, Karol and Russell, Laura and Rutledge, Lane S and Saletti, Veronica and Schonberg, Rhonda and Schreiber, Allison and Seidel, Meredith and Siqveland, Elizabeth and Stockton, David W and Trevisson, Eva and Ullrich, Nicole J and Upadhyaya, Meena and van Minkelen, Rick and Verhelst, Helene and Wallace, Margaret R and Yap, Yoon-Sim and Zackai, Elaine and Zonana, Jonathan and Zurcher, Vickie and Claes, Kathleen and Martin, Yolanda and Korf, Bruce R and Legius, Eric and Messiaen, Ludwine M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 69 - 87
Journal Article
by Rojnueangnit, Kitiwan and Xie, Jing and Gomes, Alicia and Sharp, Angela and Callens, Tom and Chen, Yunjia and Liu, Ying and Cochran, Meagan and Abbott, Mary‐Alice and Atkin, Joan and Babovic‐Vuksanovic, Dusica and Barnett, Christopher P and Crenshaw, Melissa and Bartholomew, Dennis W and Basel, Lina and Bellus, Gary and Ben‐Shachar, Shay and Bialer, Martin G and Bick, David and Blumberg, Bruce and Cortes, Fanny and David, Karen L and Destree, Anne and Duat‐Rodriguez, Anna and Earl, Dawn and Escobar, Luis and Eswara, Marthanda and Ezquieta, Begona and Frayling, Ian M and Frydman, Moshe and Gardner, Kathy and Gripp, Karen W and Hernández‐Chico, Concepcion and Heyrman, Kurt and Ibrahim, Jennifer and Janssens, Sandra and Keena, Beth A and Llano‐Rivas, Isabel and Leppig, Kathy and McDonald, Marie and Misra, Vinod K and Mulbury, Jennifer and Narayanan, Vinodh and Orenstein, Naama and Galvin‐Parton, Patricia and Pedro, Helio and Pivnick, Eniko K and Powell, Cynthia M and Randolph, Linda and Raskin, Salmo and Rosell, Jordi and Rubin, Karol and Seashore, Margretta and Schaaf, Christian P and Scheuerle, Angela and Schultz, Meredith and Schorry, Elizabeth and Schnur, Rhonda and Siqveland, Elizabeth and Tkachuk, Amanda and Tonsgard, James and Upadhyaya, Meena and Verma, Ishwar C and Wallace, Stephanie and Williams, Charles and Zackai, Elaine and Zonana, Jonathan and Lazaro, Conxi and Claes, Kathleen and Korf, Bruce and Martin, Yolanda and Legius, Eric and Messiaen, Ludwine
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article