Neurofibromatosis type 1 molecular and cellular biology /

Tekijä Upadhyaya, Meena., Cooper, David N.
Julkaistu 2012

Emerging therapeutic targets for neurofibromatosis type 1 (NF1)

Tekijä Walker, James A., Upadhyaya, Meena
Julkaisussa Expert Opin Ther Targets (2018)

An emerging role for microRNAs in NF1 tumorigenesis

Tekijä Sedani, Ashni, Cooper, David N, Upadhyaya, Meena
Julkaistu 2012

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

Tekijä Thomas Laura, Mautner Victor-Felix, Cooper David N, Upadhyaya Meena
Julkaistu 2012-09-01

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

Tekijä Thomas, Laura, Mautner, Victor-Felix, Cooper, David N, Upadhyaya, Meena
Julkaistu 2012

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

Tekijä Alkindy, Adila, Chuzhanova, Nadia, Kini, Usha, Cooper, David N, Upadhyaya, Meena
Julkaistu 2012

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

Tekijä Spyk, Sebastian Laycock-van, Thomas, Nick, Cooper, David N, Upadhyaya, Meena
Julkaistu 2011

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

Tekijä Lee, Cheng-Hiang, Spence, Roy A J, Upadhyaya, Meena, Morrison, Patrick J
Julkaistu 2011

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

Tekijä Hamby, Stephen E, Reviriego, Pablo, Cooper, David N, Upadhyaya, Meena, Chuzhanova, Nadia
Julkaistu 2013

The NF1 somatic mutational landscape in sporadic human cancers

Tekijä Philpott, Charlotte, Tovell, Hannah, Frayling, Ian M., Cooper, David N., Upadhyaya, Meena
Julkaisussa Hum Genomics (2017)

Telomere erosion in NF1 tumorigenesis

Tekijä Jones, Rhiannon E., Grimstead, Julia W., Sedani, Ashni, Baird, Duncan, Upadhyaya, Meena
Julkaisussa Oncotarget (2017)

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

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

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

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

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

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

Tekijä 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
Julkaistu 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

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

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

Tekijä 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
Julkaistu 2007

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

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

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

Tekijä 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
Julkaisussa Hum Genomics (2015)

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

Tekijä 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.
Julkaistu 1992