Neurofibromatosis type 1 molecular and cellular biology /

od Upadhyaya, Meena., Cooper, David N.
Izdano 2012

Emerging therapeutic targets for neurofibromatosis type 1 (NF1)

od Walker, James A., Upadhyaya, Meena
izdano v Expert Opin Ther Targets (2018)

An emerging role for microRNAs in NF1 tumorigenesis

od Sedani, Ashni, Cooper, David N, Upadhyaya, Meena
Izdano 2012

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1

od Thomas Laura, Mautner Victor-Felix, Cooper David N, Upadhyaya Meena
Izdano 2012-09-01

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1

od Thomas, Laura, Mautner, Victor-Felix, Cooper, David N, Upadhyaya, Meena
Izdano 2012

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

od Alkindy, Adila, Chuzhanova, Nadia, Kini, Usha, Cooper, David N, Upadhyaya, Meena
Izdano 2012

Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis

od Spyk, Sebastian Laycock-van, Thomas, Nick, Cooper, David N, Upadhyaya, Meena
Izdano 2011

Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence

od Lee, Cheng-Hiang, Spence, Roy A J, Upadhyaya, Meena, Morrison, Patrick J
Izdano 2011

Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1

od Hamby, Stephen E, Reviriego, Pablo, Cooper, David N, Upadhyaya, Meena, Chuzhanova, Nadia
Izdano 2013

The NF1 somatic mutational landscape in sporadic human cancers

od Philpott, Charlotte, Tovell, Hannah, Frayling, Ian M., Cooper, David N., Upadhyaya, Meena
izdano v Hum Genomics (2017)

Telomere erosion in NF1 tumorigenesis

od Jones, Rhiannon E., Grimstead, Julia W., Sedani, Ashni, Baird, Duncan, Upadhyaya, Meena
izdano v Oncotarget (2017)

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy

od Winston, Jincy, Duerden, Laura, Mort, Matthew, Frayling, Ian M, Rogers, Mark T, Upadhyaya, Meena
izdano v Eur J Hum Genet (2015)

Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation

od Ben-Shachar, Shay, Constantini, Shlomi, Hallevi, Hen, Sach, Emma K, Upadhyaya, Meena, Evans, Gareth D, Huson, Susan M
Izdano 2013

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

od Douglas, Jenny, Hanks, Sandra, Temple, I. Karen, Davies, Sally, Murray, Alexandra, Upadhyaya, Meena, Tomkins, Susan, Hughes, Helen E., Cole, Trevor R. P., Rahman, Nazneen
Izdano 2003

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

od Thomas, Laura, Spurlock, Gill, Eudall, Claire, Thomas, Nick S, Mort, Matthew, Hamby, Stephen E, Chuzhanova, Nadia, Brems, Hilde, Legius, Eric, Cooper, David N, Upadhyaya, Meena
Izdano 2012

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

od Burkitt Wright, Emma MM, Sach, Emma, Sharif, Saba, Quarrell, Oliver, Carroll, Thomas, Whitehouse, Richard W, Upadhyaya, Meena, Huson, Susan M, Evans, D Gareth R
Izdano 2013

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

od Ferner, Rosalie E, Huson, Susan M, Thomas, Nick, Moss, Celia, Willshaw, Harry, Evans, D Gareth, Upadhyaya, Meena, Towers, Richard, Gleeson, Michael, Steiger, Christine, Kirby, Amanda
Izdano 2007

Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours

od Thomas, Laura E, Winston, Jincy, Rad, Ellie, Mort, Matthew, Dodd, Kayleigh M, Tee, Andrew R, McDyer, Fionnuala, Moore, Stephen, Cooper, David N, Upadhyaya, Meena
izdano v Hum Genomics (2015)

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD

od 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
izdano v Hum Genomics (2015)

Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: Combined analysis of an international consortium

od Sarfarazi, Mansoor, Wijmenga, Cisca, Upadhyaya, Meena, Weiffenbach, Barbara, Hyser, Craig, Mathews, Kathy, Murray, Jeffrey, Gilbert, John, Pericak-Vance, Margaret, Lunt, Peter, Frants, Rune R., Jacobsen, Stephen, Harper, Peter S., Padberg, George W.
Izdano 1992