Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review
Pacot, Laurence, Girish, Milind, Knight, Samantha, Spurlock, Gill, Varghese, Vinod, Ye, Manuela, Thomas, Nick, Pasmant, Eric, Upadhyaya, Meena
Published in BMC medical genomics (06.03.2024)
Published in BMC medical genomics (06.03.2024)
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Journal Article
Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings
Spurlock, Gill, Knight, Samantha J. L, Thomas, Nick, Kiehl, Tim-Rasmus, Guha, Abhijit, Upadhyaya, Meena
Published in Journal of cancer research and clinical oncology (01.12.2010)
Published in Journal of cancer research and clinical oncology (01.12.2010)
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Journal Article
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
Pasmant, Eric, Sabbagh, Audrey, Spurlock, Gill, 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, Vidaud, Dominique
Published in Human mutation (01.06.2010)
Published in Human mutation (01.06.2010)
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Journal Article
Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules
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, Patel, Girish K.
Published in Skin health and disease (24.06.2024)
Published in Skin health and disease (24.06.2024)
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Journal Article
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas
Upadhyaya, Meena, Spurlock, Gill, Kluwe, Lan, Chuzhanova, Nadia, Bennett, Emma, Thomas, Nick, Guha, Abhijit, Mautner, Victor
Published in Neurogenetics (01.07.2009)
Published in Neurogenetics (01.07.2009)
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Journal Article
Germline and somatic NF1 gene mutations in plexiform neurofibromas
Upadhyaya, Meena, Spurlock, Gill, Monem, Bisma, Thomas, Nick, Friedrich, Reinhard E, Kluwe, Lan, Mautner, Victor
Published in Human mutation (01.08.2008)
Published in Human mutation (01.08.2008)
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Journal Article
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
Upadhyaya, Meena, Spurlock, Gill, Thomas, Laura, Thomas, Nick S. T., Richards, Mark, Mautner, Viktor-Felix, Cooper, David N., Guha, Abhijit, Yan, Jim
Published in Human mutation (01.04.2012)
Published in Human mutation (01.04.2012)
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Journal Article
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
THOMAS, Laura, SPURLOCK, Gill, UPADHYAYA, Meena, EUDALL, Claire, THOMAS, Nick S, MORT, Matthew, HAMBY, Stephen E, CHUZHANOVA, Nadia, BREMS, Hilde, LEGIUS, Eric, COOPER, David N
Published in European journal of human genetics : EJHG (01.04.2012)
Published in European journal of human genetics : EJHG (01.04.2012)
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Journal Article
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)
Upadhyaya, Meena, Spurlock, Gill, Majounie, Elisa, Griffiths, Sian, Forrester, Natalie, Baser, Mike, Huson, Susan M., Gareth Evans, D., Ferner, Rosalie
Published in Human mutation (01.07.2006)
Published in Human mutation (01.07.2006)
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Journal Article
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the NF1 phenotype
Spurlock, Gill, Bennett, Emma, Chuzhanova, Nadia, Thomas, Nick, Jim, Hoi, Side, Lucy, Davies, Sally, Haan, Eric, Kerr, Bronwyn, Huson, Susan M, Upadhyaya, Meena
Published in Journal of medical genetics (01.07.2009)
Published in Journal of medical genetics (01.07.2009)
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Journal Article
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)
Upadhyaya, Meena, Spurlock, Gill, Majounie, Elisa, Griffiths, Sian, rester, Natalie, Baser, Mike, Huson, Susan M, Evans, DGareth, Ferner, Rosalie
Published in Human mutation (01.01.2006)
Published in Human mutation (01.01.2006)
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