Neurofibromatosis type 1 molecular and cellular biology /

Por Upadhyaya, Meena., Cooper, David N.
Publicado em 2012

Emerging therapeutic targets for neurofibromatosis type 1 (NF1)

Por Walker, James A., Upadhyaya, Meena
Publicado no Expert Opin Ther Targets (2018)

An emerging role for microRNAs in NF1 tumorigenesis

Por Sedani, Ashni, Cooper, David N, Upadhyaya, Meena
Publicado em 2012

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

Por Thomas Laura, Mautner Victor-Felix, Cooper David N, Upadhyaya Meena
Publicado em 2012-09-01

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

Por Thomas, Laura, Mautner, Victor-Felix, Cooper, David N, Upadhyaya, Meena
Publicado em 2012

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

Por Alkindy, Adila, Chuzhanova, Nadia, Kini, Usha, Cooper, David N, Upadhyaya, Meena
Publicado em 2012

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

Por Spyk, Sebastian Laycock-van, Thomas, Nick, Cooper, David N, Upadhyaya, Meena
Publicado em 2011

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

Por Lee, Cheng-Hiang, Spence, Roy A J, Upadhyaya, Meena, Morrison, Patrick J
Publicado em 2011

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

Por Hamby, Stephen E, Reviriego, Pablo, Cooper, David N, Upadhyaya, Meena, Chuzhanova, Nadia
Publicado em 2013

The NF1 somatic mutational landscape in sporadic human cancers

Por Philpott, Charlotte, Tovell, Hannah, Frayling, Ian M., Cooper, David N., Upadhyaya, Meena
Publicado no Hum Genomics (2017)

Telomere erosion in NF1 tumorigenesis

Por Jones, Rhiannon E., Grimstead, Julia W., Sedani, Ashni, Baird, Duncan, Upadhyaya, Meena
Publicado no Oncotarget (2017)

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

Por Winston, Jincy, Duerden, Laura, Mort, Matthew, Frayling, Ian M, Rogers, Mark T, Upadhyaya, Meena
Publicado no Eur J Hum Genet (2015)

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

Por Ben-Shachar, Shay, Constantini, Shlomi, Hallevi, Hen, Sach, Emma K, Upadhyaya, Meena, Evans, Gareth D, Huson, Susan M
Publicado em 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

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

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

Por 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
Publicado em 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

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

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

Por 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
Publicado em 2007

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

Por Thomas, Laura E, Winston, Jincy, Rad, Ellie, Mort, Matthew, Dodd, Kayleigh M, Tee, Andrew R, McDyer, Fionnuala, Moore, Stephen, Cooper, David N, Upadhyaya, Meena
Publicado no Hum Genomics (2015)

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

Por 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
Publicado no Hum Genomics (2015)

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

Por 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.
Publicado em 1992