1. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype–phenotype correlations. Issue 4 (28th January 2011) Authors: Sharif, Saba; Upadhyaya, Meena; Ferner, Rosalie; Majounie, Elisa; Shenton, Andrew; Baser, Michael; Thakker, Nalin; Evans, D Gareth Journal: Journal of medical genetics Issue: Volume 48:Issue 4(2011) Page Start: 256 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A search for evidence of somatic mutations in theNF1 gene. Issue 1 (1st January 2000) Authors: John, Alison M; Ruggieri, Martino; Ferner, Ros; Upadhyaya, Meena Journal: Journal of medical genetics Issue: Volume 37:Issue 1(2000) Page Start: 44 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation. Issue 4 (10th December 2018) Authors: Frayling, Ian M; Mautner, Victor-Felix; van Minkelen, Rick; Kallionpaa, Roope A; Aktaş, Safiye; Baralle, Diana; Ben-Shachar, Shay; Callaway, Alison; Cox, Harriet; Eccles, Diana M; Ferkal, Salah; LaDuca, Holly; Lázaro, Conxi; Rogers, Mark T; Stuenkel, Aaron J; Summerour, Pia; Varan, Ali; Yap, Yoon... Journal: Journal of medical genetics Issue: Volume 56:Issue 4(2019) Page Start: 209 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. Issue 9 (28th June 2013) Authors: Burkitt Wright, Emma MM; Sach, Emma; Sharif, Saba; Quarrell, Oliver; Carroll, Thomas; Whitehouse, Richard W; Upadhyaya, Meena; Huson, Susan M; Evans, D Gareth R Journal: Journal of medical genetics Issue: Volume 50:Issue 9(2013) Page Start: 606 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Confirmation of mutation landscape of NF1‐associated malignant peripheral nerve sheath tumors. Issue 5 (7th March 2017) Authors: Sohier, Pierre; Luscan, Armelle; Lloyd, Angharad; Ashelford, Kevin; Laurendeau, Ingrid; Briand‐Suleau, Audrey; Vidaud, Dominique; Ortonne, Nicolas; Pasmant, Eric; Upadhyaya, Meena Journal: Genes, chromosomes & cancer Issue: Volume 56:Issue 5(2017:May) Page Start: 421 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cutaneous neurofibromas: Current clinical and pathologic issues. (10th July 2018) Authors: Ortonne, Nicolas; Wolkenstein, Pierre; Blakeley, Jaishri O.; Korf, Bruce; Plotkin, Scott R.; Riccardi, Vincent M.; Miller, Douglas C.; Huson, Susan; Peltonen, Juha; Rosenberg, Andrew; Carroll, Steven L.; Verma, Sharad K.; Mautner, Victor; Upadhyaya, Meena; Stemmer-Rachamimov, Anat Journal: Neurology Issue: Volume 91(2018)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Emerging therapeutic targets for neurofibromatosis type 1. (4th May 2018) Authors: Walker, James A.; Upadhyaya, Meena Journal: Expert opinion on therapeutic targets Issue: Volume 22:Number 5(2018:May) Page Start: 419 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence. (18th February 2011) Authors: Lee, Cheng-Hiang; Spence, Roy A J; Upadhyaya, Meena; Morrison, Patrick J Journal: BMJ case reports Issue: Volume 2011 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics. Issue 6 (25th March 2019) Authors: Rauen, Katherine A.; Alsaegh, Abeer; Ben‐Shachar, Shay; Berman, Yemima; Blakeley, Jaishri; Cordeiro, Isabel; Elgersma, Ype; Evans, D. Gareth; Fisher, Michael J.; Frayling, Ian M.; George, Joshi; Huson, Susan M.; Kerr, Bronwyn; Khire, Uday; Korf, Bruce; Legius, Eric; Messiaen, Ludwine; van Minkele... Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 1091 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. Issue 2 (14th November 2006) Authors: 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 Journal: Journal of medical genetics Issue: Volume 44:Issue 2(2007) Page Start: 81 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗