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Number of items: 87.

Lovatt, Charlotte, Williams, Megan, Gibbs, Alex, Mukhtar, Abdullahi, Morgan, Huw J., Lanfredini, Simone

, Olivero, Carlotta

, Spurlock, Gill, Davies, Sally, Philpott, Charlotte, Tovell, Hannah, Turnpenny, Peter, Baban, Dilair, Knight, Sam, Brems, Hilde, Sampson, Julian R.

, Legius, Eric, Upadhyaya, Meena and Patel, Girish K. 2024. Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules. Skin Health and Disease 4 (5) , e394. 10.1002/ski2.394

Pacot, Laurence, Girish, Milind, Knight, Samantha, Spurlock, Gill, Varghese, Vinod, Ye, Manuela, Thomas, Nick, Pasmant, Eric and Upadhyaya, Meena 2024. Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review. BMC Medical Genomics 17 (1) , 73. 10.1186/s12920-024-01843-5

Sundby, R. Taylor, Rhodes, Steven D., Komlodi-Pasztor, Edina, Sarnoff, Herb, Grasso, Vito, Upadhyaya, Meena, Kim, AeRang, Evans, D. Gareth, Blakeley, Jaishri O., Hanemann, C. Oliver and Bettegowda, Chetan 2024. Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials. Clinical Trials 21 (1) , pp. 40-50. 10.1177/17407745231203330

Lemmers, Richard J. L. F., Vliet, Patrick J., Granado, David San Leon, Stoep, Nienke, Buermans, Henk, Schendel, Robin, Schimmel, Joost, Visser, Marianne, Coster, Rudy, Jeanpierre, Marc, Laforet, Pascal, Upadhyaya, Meena, Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Voermans, Nicol C., Rogers, Mark and van der Maarel, Silvère M. 2022. High resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect. Human Molecular Genetics 31 (5) , pp. 748-760. 10.1093/hmg/ddab250

Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A., Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Gutmann, David H., Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A., Tadini, Gianluca, Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Gomes, Alicia, Jordan, Justin T., Mautner, Victor, Merker, Vanessa L., Smith, Miriam J., Stevenson, David, Anten, Monique, Aylsworth, Arthur, Baralle, Diana, Barbarot, Sebastien, Barker, Fred, Ben-Shachar, Shay, Bergner, Amanda, Bessis, Didier, Blanco, Ignacio, Cassiman, Catherine, Ciavarelli, Patricia, Clementi, Maurizio, Frébourg, Thierry, Giovannini, Marco, Halliday, Dorothy, Hammond, Chris, Hanemann, C. O., Hanson, Helen, Heiberg, Arvid, Joly, Pascal, Kalamarides, Michel, Karajannis, Matthias, Kroshinsky, Daniela, Larralde, Margarita, Lázaro, Conxi, Le, Lu, Link, Michael, Listernick, Robert, MacCollin, Mia, Mallucci, Conor, Moertel, Christopher, Mueller, Amy, Ngeow, Joanne, Oostenbrink, Rianne, Packer, Roger, Papi, Laura, Parry, Allyson, Peltonen, Juha, Pichard, Dominique, Poppe, Bruce, Rezende, Nilton, Rodrigues, Luiz Oswaldo, Rosser, Tena, Ruggieri, Martino, Serra, Eduard, Steinke-Lange, Verena, Stivaros, Stavros Michael, Taylor, Amy, Toelen, Jaan, Tonsgard, James, Trevisson, Eva, Upadhyaya, Meena, Varan, Ali, Wilson, Meredith, Wu, Hao, Zadeh, Gelareh, Huson, Susan M., Evans, D. Gareth and Plotkin, Scott R. 2021. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in Medicine 23 (8) , pp. 1506-1513. 10.1038/s41436-021-01170-5

Summerer, Anna, Mautner, Victor-Felix, Upadhyaya, Meena, Claes, Kathleen B. M., Högel, Josef, Cooper, David N.

, Messiaen, Ludwine and Kehrer-Sawatzki, Hildegard 2018. Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences. Human Genetics 137 (6-7) , pp. 511-520. 10.1007/s00439-018-1904-1

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, Destrée, 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., Hernández-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 and Messiaen, Ludwine M. 2018. Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844-848. American Journal of Human Genetics 102 (1) , pp. 69-87. 10.1016/j.ajhg.2017.12.001

Philpott, Charlotte, Tovell, Hannah, Frayling, Ian Martin, Cooper, David Neil

and Upadhyaya, Meena 2017. The NF1 somatic mutational landscape in sporadic human cancers. Human Genomics 11 (1) , 13. 10.1186/s40246-017-0109-3

Robinson, Rhiannon, Grimstead, Julia, Sedani, Ashni, Baird, Duncan

and Upadhyaya, Meena 2017. Telomere erosion in NF1 tumorigenesis. Oncotarget 8 (25) , pp. 40132-40139. 10.18632/oncotarget.16981

Sohier, Pierre, Luscan, Armelle, Lloyd, Angharad, Ashelford, Kevin E.

, Laurendeau, Ingrid, Briand-Suleau, Audrey, Vidaud, Dominique, Ortonne, Nicolas, Pasmant, Eric and Upadhyaya, Meena 2017. Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors. Genes, Chromosomes and Cancer 56 (5) , pp. 421-426. 10.1002/gcc.22446

Upadhyaya, Meena, Winston, Jincy, Radcliffe, E., Mort, Matthew, Dodd, Kayleigh, Tee, Andrew

, McDyer, F., Moore, S., Cooper, David Neil

and Thomas, L. 2015. Correlation of copy number changes and gene expression in neurofibromatosis1-associated malignant peripheral nerve sheath tumours [Abstract]. Pediatric Blood and Cancer 62 (S4) , S152-S152. 10.1002/pbc.25715

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 Neil

, Upadhyaya, Meena and Chuzhanova, Nadia 2015. Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD. Human Genomics 9 , 25. 10.1186/s40246-015-0047-x

Rad, Ellie, Dodd, Kayleigh M., Thomas, Laura E.

, Upadhyaya, Meena and Tee, Andrew

2015. STAT3 and HIF1 signaling drives oncogenic cellular phenotypes in malignant peripheral nerve sheath tumors. Molecular Cancer Research 13 (7) , p. 1149. 10.1158/1541-7786.MCR-14-0182

Thomas, Laura E.

, Winston, Jincy, Rad, Ellie, Mort, Matthew, Dodd, Kayleigh M., Tee, Andrew

, McDyer, Fionnuala, Moore, Stephen, Cooper, David Neil

and Upadhyaya, Meena 2015. Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours. Human Genomics 9 (1) , 3. 10.1186/s40246-015-0025-3

Lemmers, R. J. L. F., Goeman, J. J., van der Vliet, P. J., van Nieuwenhuizen, M. P., Balog, J., Vos-Versteeg, M., Camano, P., Ramos Arroyo, M. A., Jerico, I., Rogers, Mark, Miller, D. G., Upadhyaya, Meena, Verschuuren, J. J. G. M., Lopez de Munain Arregui, A., van Engelen, B. G. M., Padberg, G. W., Sacconi, S., Tawil, R., Tapscott, S. J., Bakker, B. and van der Maarel, S. M. 2015. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. Human Molecular Genetics 24 (3) , pp. 659-669. 10.1093/hmg/ddu486

Winston, Jincy, Duerden, Laura, Mort, Matthew, Frayling, Ian, Rogers, Mark and Upadhyaya, Meena 2015. Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy. European Journal of Human Genetics 23 (1) , pp. 67-71. 10.1038/ejhg.2014.58

Rauen, Katherine A., Huson, Susan M., Burkitt-Wright, Emma, Evans, D. Gareth, Farschtschi, Said, Ferner, Rosalie E., Gutmann, David H., Hanemann, C. Oliver, Kerr, Bronwyn, Legius, Eric, Parada, Luis F., Patton, Michael, Peltonen, Juha, Ratner, Nancy, Riccardi, Vincent M., van der Vaart, Thijs, Vikkula, Miikka, Viskochil, David H., Zenker, Martin and Upadhyaya, Meena 2014. Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues. American Journal of Medical Genetics Part A 167 (1) , pp. 1-10. 10.1002/ajmg.a.36793

De Raedt, Thomas, Beert, Eline, Pasmant, Eric, Luscan, Armelle, Brems, Hilde, Ortonne, Nicolas, Helin, Kristian, Hornick, Jason L., Mautner, Victor, Kehrer-Sawatzki, Hildegard, Clapp, Wade, Bradner, James, Vidaud, Michel, Upadhyaya, Meena, Legius, Eric and Cichowski, Karen 2014. PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. Nature 514 (7521) , pp. 247-251. 10.1038/nature13561

Burkitt Wright, E, Sach, E, Sharif, S, Quarrell, O, Carroll, T, Whitehouse, R, Upadhyaya, Meena, Huson, S and Evans, D 2013. Can the diagnosis of NF1 be excluded clinically? a lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. Journal of Medical Genetics 50 (9) , pp. 606-613. 10.1136/jmedgenet-2013-101648

Hamby, Stephen E., Reviriego, Pablo, Cooper, David Neil

, Upadhyaya, Meena and Chuzhanova, Nadia 2013. Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1. Human Genomics 7 , 18. 10.1186/1479-7364-7-18

Ben-Shachar, S., Constantini, S., Hallevi, H., Sach, E., Upadhyaya, Meena, Evans, G. and Huson, S. 2013. Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. European Journal of Human Genetics 21 (5) , pp. 535-539. 10.1038/ejhg.2012.221

Upadhyaya, Meena and Cooper, David Neil

, eds. 2013. Neurofibromatosis Type 1: molecular and cellular biology. Heidelberg: Springer Verlag. 10.1007/978-3-642-32864-0

Thomas, Laura

, Richards, Mark

, Mort, Matthew Edwin, Dunlop, Elaine A.

, Cooper, David Neil

and Upadhyaya, Meena 2012. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. Human Mutation 33 (12) , pp. 1687-1696. 10.1002/humu.22162

Sedani, Ashni, Cooper, David Neil

and Upadhyaya, Meena 2012. An emerging role for microRNAs in NF1 tumorigenesis. Human Genomics 6 , 23. 10.1186/1479-7364-6-23

Upadhyaya, Meena and Cooper, David Neil

2012. Somatic copy number alterations: Gene and protein expression correlates in NF1-associated malignant peripheral nerve sheath tumors. Upadhyaya, Meena and Cooper, David Neil

, eds. Neurofibromatosis Type 1: Molecular and Cellular Biology, Springer, pp. 405-428. (10.1007/978-3-642-32864-0_27)

Cooper, David Neil

and Upadhyaya, Meena 2012. The germline mutational spectrum in neurofibromatosis type 1 and genotype-phenotype correlations. Upadhyaya, Meena and Cooper, David Neil

, eds. Neurofibromatosis Type 1: Molecular and Cellular Biology, Springer, pp. 115-134. (10.1007/978-3-642-32864-0_10)

Thomas, Laura

, Mautner, Victor-Felix, Cooper, David Neil

and Upadhyaya, Meena 2012. Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1. Human Genomics 6 , 18. 10.1186/1479-7364-6-18

Upadhyaya, Meena, Spurlock, Gillian, Thomas, Laura

, Thomas, Nicholas Stuart Tudor, Richards, Mark

, Mautner, Viktor-Felix, Cooper, David Neil

, Guha, Abhijit and Yan, Jim 2012. Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis. Human Mutation 33 (4) , pp. 763-776. 10.1002/humu.22044

Richards, Mark, Coppée, Frédérique, Thomas, Nicholas Stuart Tudor, Belayew, Alexandra and Upadhyaya, Meena 2012. Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? Human Genetics 131 (3) , pp. 325-340. 10.1007/s00439-011-1100-z

Thomas, Laura

, Spurlock, Gillian, Eudall, Claire, Thomas, Nicholas Stuart Tudor, Mort, Matthew Edwin, Hamby, Stephen E., Chuzhanova, Nadia, Brems, Hilde, Legius, Eric, Cooper, David Neil

and Upadhyaya, Meena 2012. Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. European Journal of Human Genetics 20 (4) , pp. 411-419. 10.1038/ejhg.2011.207

Zickler, Antje M., Hampp, Stephanie, Messiaen, Ludwine, Bengesser, Kathrin, Mussotter, Tanja, Roehl, Angelika C., Wimmer, Katharina, Mautner, Victor-Felix, Kluwe, Lan, Upadhyaya, Meena, Pasmant, Eric, Chuzhanova, Nadia, Kestler, Hans A., Högel, Josef, Legius, Eric, Claes, Kathleen, Cooper, David Neil

and Kehrer-Sawatzki, Hildegard 2012. Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. Human Mutation 33 (2) , pp. 372-383. 10.1002/humu.21644

Ribeiro, Maria José, Violante, Inês Ribeiro, Bernardino, Inês, Ramos, Fabiana, Saraiva, Jorge, Reviriego Santos, Pablo, Upadhyaya, Meena, Silva, Eduardo Duarte and Castelo-Branco, Miguel 2011. Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1. Investigative Ophthalmology and Visual Science 53 (1) , pp. 287-293. 10.1167/iovs.11-8225

Laycock-Van spyk, Sebastian, Thomas, Nicholas Stuart Tudor, Cooper, David Neil

and Upadhyaya, Meena 2011. Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. Human Genomics 5 (6) , pp. 623-690.

Huson, Susan M., Acosta, Maria T., Belzberg, Allan J., Bernards, Andre, Chernoff, Jonathan, Cichowski, Karen, Gareth Evans, D., Ferner, Rosalie E., Giovannini, Marco, Korf, Bruce R., Listernick, Robert, North, Kathryn N., Packer, Roger J., Parada, Luis F., Peltonen, Juha, Ramesh, Vijaya, Reilly, Karlyne M., Risner, John W., Schorry, Elizabeth K., Upadhyaya, Meena, Viskochil, David H., Zhu, Yuan, Hunter-Schaedle, Kim and Giancotti, Filippo G. 2011. Back to the future: proceedings from the 2010 NF Conference. American Journal of Medical Genetics Part A 155 (2) , pp. 307-321. 10.1002/ajmg.a.33804

Kalamarides, Michel, Acosta, Maria T., Babovic-Vuksanovic, Dusica, Carpen, Olli, Cichowski, Karen, Gareth Evans, D., Giancotti, Filippo, Oliver Hanemann, C., Ingram, David, Lloyd, Alison C., Mayes, Debra A., Messiaen, Ludwine, Morrison, Helen, North, Kathryn, Packer, Roger, Pan, Duojia, Stemmer-Rachamimov, Anat, Upadhyaya, Meena, Viskochil, David, Wallace, Margret R., Hunter-Schaedle, Kim and Ratner, Nancy 2011. Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting. Acta Neuropathologica 123 (3) , pp. 369-380. 10.1007/s00401-011-0905-0

Laycock-Van spyk, Sebastian, Jim, H. P., Thomas, Laura

, Spurlock, Gillian, Fares, L., Palmer-Smith, S., Kini, U., Saggar, A., Patton, M., Mautner, V., Pilz, Daniela T. and Upadhyaya, Meena 2011. Identification of five novel SPRED1 germline mutations in Legius syndrome [Letter]. Clinical Genetics 80 (1) , pp. 93-96. 10.1111/j.1399-0004.2010.01618.x

Sharif, Saba, Upadhyaya, Meena, Ferner, Rosalie, Majounie, Elisa

, Shenton, Andrew, Baser, Michael, Thakker, Nalin and Evans, D. Gareth 2011. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. Journal of Medical Genetics 48 (4) , pp. 256-260. 10.1136/jmg.2010.081760

Spurlock, Gillian, Knight, Samantha, Thomas, Nicholas Stuart Tudor, Kiehl, Tim-Rasmus, Guha, Abhijit Ranjan and Upadhyaya, Meena 2010. Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings. Journal of Cancer Research and Clinical Oncology 136 (12) , pp. 1869-1880. 10.1007/s00432-010-0846-3

Thomas, Laura

, Kluwe, Lan, Chuzhanova, Nadia, Mautner, Victor and Upadhyaya, Meena 2010. Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden. Neurogenetics 11 (4) , pp. 391-400. 10.1007/s10048-010-0240-y

Spurlock, Gillian, Jim, Hoi-Ping and Upadhyaya, Meena 2010. Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families. Muscle & Nerve 42 (5) , pp. 820-821. 10.1002/mus.21766

Pasmant, Eric, Vidaud, Dominique, Harrison, Marcus and Upadhyaya, Meena 2010. Different sized somatic NF1 locus rearrangements in neurofibromatosis 1-associated malignant peripheral nerve sheath tumors. Journal of Neuro-Oncology 102 (3) , pp. 341-346. 10.1007/s11060-010-0328-0

Pasmant, Eric, Sabbagh, Audrey, Spurlock, Gillian, Laurendeau, Ingrid, Grillo, Elisa, Hamel, Marie-José, Martin, Ludovic, Barbarot, Sébastien, Leheup, Bruno, Rodriguez, Diana, Lacombe, Didier, Dollfus, Hélène, Pasquier, Laurent, Isidor, Bertrand, Ferkal, Salah, Soulier, Jean, Sanson, Marc, Dieux-Coeslier, Anne, Bièche, Ivan, Parfait, Béatrice, Vidaud, Michel, Wolkenstein, Pierre, Upadhyaya, Meena and Vidaud, Dominique 2010. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Human Mutation 31 (6) , E1506-E1518. 10.1002/humu.21271

Jim, H. P. and Upadhyaya, Meena 2010. Gene symbol: SPRED1. Disease: Legius syndrome [Abstract]. Human Genetics 127 (1) , p. 111. 10.1007/s00439-009-0757-z

Spurlock, Gillian, Bennett, Emma Louise, Chuzhanova, Nadia, Thomas, Nicholas Stuart Tudor, Jim, Hoi-Ping, Side, L., Davies, S., Haan, E., Kerr, Briedgeen, Huson, S. M. and Upadhyaya, Meena 2009. SPRED1 mutations (Legius syndrome): Another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. Journal of Medical Genetics 46 (7) , pp. 431-437. 10.1136/jmg.2008.065474

Upadhyaya, Meena, Spurlock, Gillian, Kluwe, Lan, Chuzhanova, Nadia, Bennett, Emma, Thomas, Nicholas Stuart Tudor, Guha, Abhijit and Mautner, Victor 2009. The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. Neurogenetics 10 (3) , pp. 251-263. 10.1007/s10048-009-0178-0

Brems, Hilde, Park, Caroline, Maertens, Ophelia, Pemov, Alexander, Messiaen, Ludwine, Upadhyaya, Meena, Claes, Kathleen, Beert, Eline, Peeters, Kristel, Mautner, Victor, Sloan, Jennifer L., Yao, Lawrence, Lee, Chyi-Chia Richard, Sciot, Raf, De Smet, Luc, Legius, Eric and Stewart, Douglas R. 2009. Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association. Cancer Research 69 (18) , pp. 7393-7402. 10.1158/0008-5472.CAN-09-1752

Raponi, Michela, Buratti, Emanuele, Dassie, Elisa, Upadhyaya, Meena and Baralle, Diana 2009. Low U1 snRNP dependence at the NF1 exon 29 donor splice site. Febs Journal 276 (7) , pp. 2060-2073. 10.1111/j.1742-4658.2009.06941.x

Miller, Shyra J., Jessen, Walter J., Mehta, Tapan, Hardiman, Atira, Sites, Emily, Kaiser, Sergio, Jegga, Anil G., Li, Hua, Upadhyaya, Meena, Giovannini, Marco, Muir, David, Wallace, Margaret R., Lopez, Eva, Serra, Eduard, Nielsen, G. Petur, Lazaro, Conxi, Stemmer-Rachamimov, Anat, Page, Grier, Aronow, Bruce J. and Ratner, Nancy 2009. Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene. EMBO Molecular Medicine 1 (4) , pp. 236-248. 10.1002/emmm.200900027

Mantripragada, Kiran Kumar

, de Ståhl, Teresita Díaz, Patridge, Chris, Menzel, Uwe, Andersson, Robin, Chuzhanova, Nadia, Kluwe, Lan, Guha, Abhijit Ranjan, Mautner, Victor, Dumanski, Jan P. and Upadhyaya, Meena 2009. Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array. Genes, Chromosomes and Cancer 48 (10) , pp. 897-907. 10.1002/gcc.20695

Upadhyaya, Meena, Spurlock, Gillian, Monem, Bisma Qamar, Thomas, Nicholas Stuart Tudor, Friedrich, Reinhard E., Kluwe, Lan and Mautner, Victor 2008. Germline and somatic NF1 gene mutations in plexiform neurofibromas. Human Mutation 29 (8) , E112-E122. 10.1002/humu.20793

de Ståhl, Teresita Díaz, Sandgren, Johanna, Piotrowski, Arkadiusz, Nord, Helena, Andersson, Robin, Menzel, Uwe, Bogdan, Adam, Thuresson, Ann-Charlotte, Poplawski, Andrzej, von Tell, Desiree, Hansson, Caisa M., Elshafie, Amir I., ElGhazali, Gehad, Imreh, Stephan, Nordenskjöld, Magnus, Upadhyaya, Meena, Komorowski, Jan, Bruder, Carl E.G. and Dumanski, Jan P. 2008. Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array. Human Mutation 29 (3) , pp. 398-408. 10.1002/humu.20659

Mantripragada, Kiran Kumar

, Spurlock, Gillian, Kluwe, Lan, Chuzhanova, Nadia, Ferner, Rosalie E., Frayling, Ian Martin, Dumanski, Jan P., Guha, Abhijit Ranjan, Mautner, Victor and Upadhyaya, Meena 2008. High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clinical Cancer Research 14 (4) , pp. 1015-1024. 10.1158/1078-0432.CCR-07-1305

Upadhyaya, Meena, Kluwe, Lan, Spurlock, Gillian, Monem, Bisma Qamar, Majounie, Elisa

, Mantripragada, Kiran Kumar

, Ruggieri, Martino, Chuzhanova, Nadia, Evans, D. G., Ferner, R., Thomas, Nicholas Stuart Tudor, Guha, A. and Mautner, Victor 2008. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Human Mutation 29 (1) , pp. 74-82. 10.1002/humu.20601

Stewart, H., Bowker, C., Edees, S., Smalley, S., Crocker, M., Mechan, D., Forrester, Natalie, Spurlock, Gillian and Upadhyaya, Meena 2008. Congenital disseminated neurofibromatosis type 1: a clinical and molecular case report. American Journal of Medical Genetics Part A 146A (11) , pp. 1444-1452. 10.1002/ajmg.a.32305

Kebudi, Rejin, Tuncer, Samuray, Upadhyaya, Meena, Peksayar, Gonul, Spurlock, Gillian and Yazici, Hulya 2008. A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma. Pediatric Blood & Cancer 50 (3) , pp. 713-715. 10.1002/pbc.21234

Mantripragada, Kiran Kumar

, Caley, Matthew, Stephens, Philip

, Jones, Christopher John, Kluwe, Lan, Guha, Abhijit Ranjan, Mautner, Victor and Upadhyaya, Meena 2008. Telomerase activity is a biomarker for high grade malignant peripheral nerve sheath tumors in neurofibromatosis type I individuals. Genes Chromosomes and Cancer 47 (3) , pp. 238-246. 10.1002/gcc.20525

Shen, Ming Hong

, Mantripragada, Kiran Kumar

, Dumanski, J. P., Frayling, Ian Martin and Upadhyaya, Meena 2007. Detection of copy number changes at the NF1 locus with improved high-resolution array CGH. Clinical Genetics 72 (3) , pp. 238-244. 10.1111/j.1399-0004.2007.00858.x

Griffiths, Sian, Thompson, Peter, Frayling, Ian Martin and Upadhyaya, Meena 2007. Molecular diagnosis of neurofibromatosis type 1: 2 years experience. Familial Cancer 6 (1) , pp. 21-34. 10.1007/s10689-006-9001-3

Upadhyaya, Meena, Huson, Susan M., Davies, Mark, Thomas, Nicholas Stuart Tudor, Chuzhanova, Nadia, Giovannini, S., Evans, D. Gareth, Howard, E., Kerr, B., Griffiths, S., Consoli, Claudia, Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Liu, H., Wallace, P., Van Biervliet, J. P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C. and Messiaen, Ludwine 2007. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. American Journal of Human Genetics 80 (1) , pp. 140-151. 10.1086/510781

Upadhyaya, Meena, Spurlock, Gillian, Kluwe, Lan, Mantripragada, Kiran Kumar

, Majounie, Elisa

, Pandit, A., Evans, G., Guha, A., Dumanski, J., Ferner, R. and Mautner, V. 2006. Comparison of germline and somatic mutational spectra in NF1-associated peripheral nerve sheath tumours (MPNSTs). Journal of Medical Genetics 43 (S3) , S75-S75.

Mantripragada, Kiran Kumar

, Spurlock, Gillian, Kluwe, L., Pandita, A., Guha, A., Evans, G., Ferner, R. E., Mautner, V., Frayling, Ian Martin, Dumanski, J. P. and Upadhyaya, Meena 2006. Comprehensive DNA copy number profiling of malignant peripheral nerve sheath tumours (MPNSTs) using array based comparative genomic hybridisation (array-CGH) [Abstract]. Journal of Medical Genetics 43 (Supp.) , S19.

Shen, Ming Hong

, Mantripragada, Kiran Kumar

, Dumanski, J., Frayling, Ian and Upadhyaya, Meena 2006. DNA microarray for detection of copy number changes at the NF1 locus using array comparative genomic hybridisation (CGH) analysis [Abstract]. Journal of Medical Genetics 43 (Supp.) , S19.

Upadhyaya, Meena, Spurlock, Gillian, Majounie, Elisa

, Griffiths, Sian, Forrester, Natalie, Baser, Mike, Huson, Susan M., Evans, Gareth and Ferner, Rosalie 2006. The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs). Hum Mutat 27 (7) , p. 716. 10.1002/humu.9429

Upadhyaya, Meena and Cooper, David Neil

2006. Neurofibromatosis type 1 (NF1). Ganten, D. and Ruckpaul, K., eds. Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine, Berlin: Springer, pp. 1271-1275.

Griffiths, Sian, Frayling, Ian and Upadhyaya, Meena 2005. Molecular diagnosis of Neurofibromatosis Type 1 (NF1): An 18 months experience [Abstract]. Journal of Medical Genetics 42 (Supp.) , S97.

Consoli, Claudia, Moss, Celia, Green, S., Balderson, D., Cooper, David Neil

and Upadhyaya, Meena 2005. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. Journal of Investigative Dermatology 125 (3) , pp. 463-466. 10.1111/j.0022-202x.2005.23834.x

Horan, M. P., Osborn, M., Cooper, David Neil

and Upadhyaya, Meena 2004. Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene. American Journal of Medical Genetics 131 (3) , pp. 227-231. 10.1002/ajmg.a.30358

Upadhyaya, Meena, Han, S., Consoli, Claudia, Majounie, Elisa

, Horan, M., Thomas, Nicholas Stuart, Potts, C., Griffiths, S., Ruggieri, M., von Deimling, A. and Cooper, David Neil

2004. Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Human Mutation 23 (2) , pp. 134-146. 10.1002/humu.10305

Cooper, David Neil

and Upadhyaya, Meena 2004. Introduction and overview of FSHD. Upadhyaya, Meena and Cooper, David Neil, eds. Facioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology, Oxford: Taylor & Francis, pp. 1-16.

Upadhyaya, Meena and Cooper, David Neil

2004. Facioscapulohumeral muscular dystrophy. Fuchs, J. and Podda, M., eds. Encyclopedia of Medical Genomics and Proteomics, New York: Marcel Dekker, pp. 419-425. (10.3109/9780203997352.086)

Upadhyaya, Meena, Thompson, P., Han, S. and Cooper, David Neil

2004. Neurofibromatosis type 1 (NF1): a common familial cancer syndrome. Elles, R. and Mountford, R., eds. Molecular Diagnosis of Genetic Diseases, Methods in Molecular Medicine, vol. 92. Totowa, NJ: Humana Press, pp. 285-310. (10.1385/1-59259-432-8:285)

Cooper, David Neil

and Upadhyaya, Meena, eds. 2004. Fascioscapulohumeral muscular dystrophy: clinical medicine and molecular cell biology. Oxford: Taylor & Francis.

Lemmers, R. J., Osborn, M., Haaf, T., Frants, R. R., Padberg, G. W., Cooper, David Neil

, Van der Maarel, S. M. and Upadhyaya, Meena 2003. D4F104S1 deletion in facioscapulohumeral muscular dystrophy (FSHD): phenotype, size and detection. Neurology 61 (2) , pp. 178-183.

Upadhyaya, Meena, Majounie, Elisa

, Thompson, P., Han, S., Consoli, Claudia, Krawczak, M., Cordeiro, I. and Cooper, David Neil

2003. Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. Human Genetics 112 (1) , pp. 12-17. 10.1007/s00439-002-0840-1

Upadhyaya, Meena, Osborn, M. and Cooper, David Neil

2003. Detection of NF1 mutations utilizing the protein truncation test (PTT). Potter, Nicholas T., ed. Neurogenetics, Vol. 217. Methods in Molecular Biology, Humana Press, pp. 315-328. (10.1385/1-59259-330-5:315)

Castle, B., Baser, M. E., Huson, S. M., Cooper, David Neil

and Upadhyaya, Meena 2003. Evaluation of genotype-phenotype correlations in neurofibromatosis type 1 [Letter]. Journal of Medical Genetics 40 (10) , 109e. 10.1136/jmg.40.10.e109

Upadhyaya, Meena and Cooper, David Neil

2002. Molecular diagnosis of facioscapulohumeral muscular dystrophy [review]. Expert Review of Molecular Diagnostics 2 (2) , pp. 160-171. 10.1586/14737159.2.2.160

Han, S. S., Cooper, David Neil

and Upadhyaya, Meena 2001. Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene. Human Genetics -Berlin- 109 (5) , pp. 487-497. 10.1007/s004390100594

Upadhyaya, Meena and Cooper, David Neil

2001. The molecular genetics of facioscapulohumeral muscular dystrophy. Emery, Alan E. H., ed. The Muscular Dystrophies, Oxford: Oxford University Press, pp. 137-172.

Horan, M. P., Cooper, David Neil

and Upadhyaya, Meena 2000. Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours. Human Genetics 107 (1) , pp. 33-39. 10.1007/s004390000322

Osborn, M., Cooper, David Neil

and Upadhyaya, Meena 2000. Molecular analysis of the 5'-flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants. Clinical Genetics 57 (3) , pp. 221-224. 10.1034/j.1399-0004.2000.570308.x

Upadhyaya, Meena, Ruggieri, M., Maynard, Julie Helen, Osborn, M., Hartog, C., Mudd, S., Penttinen, M., Cordeiro, I., Ponder, M., Ponder, B. A., Krawczak, M. and Cooper, David Neil

1998. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Human Genetics 102 (5) , pp. 591-597. 10.1007/s004390050746

Smith, Martin J., Creasy, Mike R., Clarke, Angus John

and Upadhyaya, Meena 1998. Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotype. Clinical Genetics 53 (4) , pp. 258-261. 10.1111/j.1399-0004.1998.tb02692.x

Upadhyaya, Meena and Cooper, David Neil

1998. The mutational spectrum in neurofibromatosis type 1 and its underlying mechanisms. Neurofibromatosis type 1: from genotype to phenotype, Human Molecular Genetics, Oxford: BIOS, pp. 65-88.

Upadhyaya, Meena and Cooper, David Neil

, eds. 1998. Neurofibromatosis Type 1: from genotype to phenotype. Oxford: BIOS Scientific.

Upadhyaya, Meena, Osborn, M. J., Maynard, Julie Helen, Kim, M. R., Tamanoi, F. and Cooper, David Neil

1997. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Human Genetics -Berlin- 99 (1) , pp. 88-92. 10.1007/s004390050317

Upadhyaya, Meena, Roberts, S. H., Farnham, J., MacMillan, J.C., Clarke, Angus John

, Heath, Jeremy P., Hodges, I. C. G. and Harper, Peter Stanley 1993. Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12. Human Genetics 91 (4) , pp. 392-394. 10.1007/BF00217365

This list was generated on Fri Feb 21 05:28:39 2025 GMT.