University of Southampton Institutional Repository

Browse by People

Group by: First Author/Creator | No Grouping

Evaluation of NSD2 and NSD3 in overgrowth syndromes - Jenny Douglas, Kim Coleman, Katrina Tatton-Brown, Helen E. Hughes, I. Karen Temple, Trevor R.P. Cole and Nazneen Rahman

Type: Article | 2005 | Item not available on this server.

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes - Jenny Douglas, Sandra Hanks, I. Karen Temple, Sally Davies, Alexandra Murray, Meena Upadhyaya, Susan Tomkins, Helen E. Hughes, Trevor R.P. Cole and Nazneen Rahman

Type: Article | 2003 | Item availability restricted.

Letter. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer - Elise Ruark, Katie Snape, Peter Humburg, Chey Loveday, Ilirjana Bajrami, Rachel Brough, Daniel Nava Rodrigues, Anthony Renwick, Sheila Seal, Emma Ramsay, Silvana Del Vecchio Duarte, Manuel A. Rivas, Margaret Warren-Perry, Anna Zachariou, Adriana Campion-Flora, Sandra Hanks, Anne Murray, Naser Ansari Pour, Jenny Douglas, Lorna Gregory, Andrew Rimmer, Neil M. Walker, Tsun-Po Yang, Julian W. Adlard, Julian Barwell, Jonathan Berg, Angela F. Brady, Carole Brewer, Glen Brice, Cyril Chapman, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Fiona Douglas, Diana Eccles, D. Gareth Evans, Lynn Greenhalgh, Alex Henderson, Louise Izatt, Ajith Kumar, Fiona Lalloo, Zosia Miedzybrodzka, Patrick J. Morrison, Joan Paterson, Mary Porteous, Mark T. Rogers, Susan Shanley, Lisa Walker, Martin Gore, Richard Houlston, Matthew A. Brown, Mark J. Caufield, Panagiotis Deloukas, Mark I. McCarthy, John A. Todd, Clare Turnbull, Jorge S. Reis-Filho, Alan Ashworth, Antonis C. Antoniou, Christopher J. Lord, Peter Donnelly and Nazneen Rahman

Type: Article | 2013 | Item not available on this server.

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome - Ingrid Slade, Chiara Bacchelli, Helen Davies, Anne Murray, Fatemeh Abbaszadeh, Sandra Hanks, Rita Barfoot, Amos Burke, Julia Chisholm, Martin Hewitt, Helen Jenkinson, Derek King, Bruce Morland, Barry Pizer, Katrina Prescott, Anand Saggar, Lucy Side, Heidi Traunecker, Sucheta Vaidya, Paul Ward, P Andrew Futreal, Gordan Vujanic, Andrew G Nicholson, Neil Sebire, Clare Turnbull, John R Priest, Kathryn Pritchard-Jones, Richard Houlston, Charles Stiller, Michael R Stratton, Jenny Douglas and Nazneen Rahman

Type: Article | 2011 | Item not available on this server.

Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma - Ingrid Slade, Anne Murray, Sandra Hanks, Ajith Kumar, Lisa Walker, Darren Hargrave, Jenny Douglas, Charles Stiller, Louise Izatt and Nazneen Rahman

Type: Article | 2011 | Item not available on this server.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype - Katrina Tatton-Brown, Anne Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M. Bird, Carol L. Clericuzio, Valerie Cormier-Daire, Tom Cushing, Frances Flinter, Marie-Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael Patton, Julia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I. Karen Temple, Trevor Cole, Sheila Seal and Nazneen Rahman

Type: Article | 2013 | Item not available on this server.

This list was generated on Thu Dec 18 09:06:57 2025 GMT.

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.