未登录 Management of neurofibromatosis type 1-associated plexiform neurofibromas 1型神经纤维瘤病相关丛状神经纤维瘤的管理 Fisher, Michael J.; Blakeley, Jaishri O.; Weiss, Brian D.; Dombi, Eva; Ahlawat, Shivani; Akshintala, Srivandana; Belzberg, Allan J.; Bornhorst, Miriam; Bredella, Miriam A.; Cai, Wenli; Ferner, Rosalie E.; Gross, Andrea M.; Harris, Gordon J.; Listernick, Robert; Ly, Ina; Martin, Staci; Mautner, Victor F.; Salamon, Johannes M.; Salerno, Kilian E.; Spinner, Robert J.; Staedtke, Verena; Ullrich, Nicole J.; Upadhyaya, Meena; Wolters, Pamela L.; Yohay, Kaleb; Widemann, Brigitte C. 分享 收藏
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study Forde, Claire; Burkitt-Wright, Emma; Turnpenny, Peter D.; Haan, Eric; Ealing, John; Mansour, Sahar; Holder, Muriel; Lahiri, Nayana; Dixit, Abhijit; Procter, Annie; Pacot, Laurence; Vidaud, Dominique; Capri, Yline; Gerard, Marion; Dollfus, Helene; Schaefer, Elise; Quelin, Chloe; Sigaudy, Sabine; Busa, Tiffany; Vera, Gabriella; Damaj, Lena; Messiaen, Ludwine; Stevenson, David A.; Davies, Peter; Palmer-Smith, Sheila; Callaway, Alison; Wolkenstein, Pierre; Pasmant, Eric; Upadhyaya, Meena 分享 收藏
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect Lemmers, Richard J. L. F.; van der Vliet, Patrick J.; Granado, David San Leon; van der Stoep, Nienke; Buermans, Henk; van Schendel, Robin; Schimmel, Joost; de Visser, Marianne; van Coster, Rudy; Jeanpierre, Marc; Laforet, Pascal; Upadhyaya, Meena; van Engelen, Baziel; Sacconi, Sabrina; Tawil, Rabi; Voermans, Nicol C.; Rogers, Mark; van der Maarel, Silvere M. 分享 收藏
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Cutaneous neurofibromas Current clinical and pathologic issues Ortonne, Nicolas; Wolkenstein, Pierre; Blakeley, Jaishri O.; Korf, Bruce; Plotkin, Scott R.; Riccardi, Vincent M.; Miller, Douglas C.; Huson, Susan; Peltonen, Juha; Rosenberg, Andrew; Carroll, Steven L.; Verma, Sharad K.; Mautner, Victor; Upadhyaya, Meena; Stemmer-Rachamimov, Anat 分享 收藏
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848 Koczkowska, Magdalena; Chen, Yunjia; Callens, Tom; Gomes, Alicia; Sharp, Angela; Johnson, Sherrell; Hsiao, Meng-Chang; Chen, Zhenbin; Balasubramanian, Meena; Barnett, Christopher P.; Becker, Troy A.; Ben-Shachar, Shay; Bertola, Debora R.; Blakeley, Jaishri O.; Burkitt-Wright, Emma M. M.; Callaway, Alison; Crenshaw, Melissa; Cunha, Karin S.; Cunningham, Mitch; D'Agostino, Maria D.; Dahan, Karin; De Luca, Alessandro; Destree, Anne; Dhamija, Radhika; Eoli, Marica; Evans, D. Gareth R.; Galvin-Parton, Patricia; George-Abraham, Jaya K.; Gripp, Karen W.; Guevara-Campos, Jose; Hanchard, Neil A.; Hernandez-Chico, Concepcion; Immken, LaDonna; Janssens, Sandra; Jones, Kristi J.; Keena, Beth A.; Kochhar, Aaina; Liebelt, Jan; Martir-Negron, Arelis; Mahoney, Maurice J.; Maystadt, Isabelle; McDougall, Carey; McEntagart, Meriel; Mendelsohn, Nancy; Miller, David T.; Mortier, Geert; Morton, Jenny; Pappas, John; Plotkin, Scott R.; Pond, Dinel; Rosenbaum, Kenneth; Rubin, Karol; Russell, Laura; Rutledge, Lane S.; Saletti, Veronica; Schonberg, Rhonda; Schreiber, Allison; Seidel, Meredith; Siqveland, Elizabeth; Stockton, David W.; Trevisson, Eva; Ullrich, Nicole J.; Upadhyaya, Meena; van Minkelen, Rick; Verhelst, Helene; Wallace, Margaret R.; Yap, Yoon-Sim; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen; Martin, Yolanda; Korf, Bruce R.; Legius, Eric; Messiaen, Ludwine M. 分享 收藏
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Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors Sohier, Pierre; Luscan, Armelle; Lloyd, Angharad; Ashelford, Kevin; Laurendeau, Ingrid; Briand-Suleau, Audrey; Vidaud, Dominique; Ortonne, Nicolas; Pasmant, Eric; Upadhyaya, Meena 分享 收藏
Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD 远程作用SMCHD1基因调控元件: FSHD患者潜在调控变异的计算机预测和鉴定 Mayes, Mary B.; Morgan, Taniesha; Winston, Jincy; Buxton, Daniel S.; Kamat, Mihir Anant; Smith, Debbie; Williams, Maggie; Martin, Rebecca L.; Kleinjan, Dirk A.; Cooper, David N.; Upadhyaya, Meena; Chuzhanova, Nadia 分享 收藏
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G.; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L.; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M.; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W.; Hernandez-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A.; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K.; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K.; Powell, Cynthia M.; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P.; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C.; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine 分享 收藏
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Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours Thomas, Laura E.; Winston, Jincy; Rad, Ellie; Mort, Matthew; Dodd, Kayleigh M.; Tee, Andrew R.; McDyer, Fionnuala; Moore, Stephen; Cooper, David N.; Upadhyaya, Meena 分享 收藏
PRC2 loss amplifies Ras-driven transcription and sensitizes cancers to bromodomain inhibitor-based combination therapies Raedt, Thomas D.; Beert, Eline; Pasmant, Eric; Luscan, Armelle; Brems, Hilde; Ortonne, Nicolas; Helin, Kristian; Mautner, Victor; Kehrer-Sawatski, Hildegard; Clapp, Wade; Bradner, James; Upadhyaya, Meena; Vidaud, Michel; Legius, Eric; Cichowski, Karen 分享 收藏
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2 Lemmers, Richard J. L. F.; Goeman, Jelle J.; van der Vliet, Patrick J.; van Nieuwenhuizen, Merlijn P.; Balog, Judit; Vos-Versteeg, Marianne; Camano, Pilar; Ramos Arroyo, Maria Antonia; Jerico, Ivonne; Rogers, Mark T.; Miller, Daniel G.; Upadhyaya, Meena; Verschuuren, Jan J. G. M.; de Munain Arregui, Adolfo Lopez; van Engelen, Baziel G. M.; Padberg, George W.; Sacconi, Sabrina; Tawil, Rabi; Tapscott, Stephen J.; Bakker, Bert; van der Maarel, Silvere M. 分享 收藏
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints Vogt, Julia; Bengesser, Kathrin; Claes, Kathleen B. M.; Wimmer, Katharina; Mautner, Victor-Felix; van Minkelen, Rick; Legius, Eric; Brems, Hilde; Upadhyaya, Meena; Hoegel, Josef; Lazaro, Conxi; Rosenbaum, Thorsten; Bammert, Simone; Messiaen, Ludwine; Cooper, David N.; Kehrer-Sawatzki, Hildegard 分享 收藏
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