Noonan syndrome with multiple lentigines and associated craniosynostosis
McDonald, B. S., Pigors, M., Kelsell, D. P., O'Toole, E. A., Burkitt‐Wright, E., Kerr, B., Batta, K.
Published in Clinical and experimental dermatology (01.04.2018)
Published in Clinical and experimental dermatology (01.04.2018)
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Journal Article
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only
Evans, D.G., Bowers, N., Burkitt-Wright, E., Miles, E., Garg, S., Scott-Kitching, V., Penman-Splitt, M., Dobbie, A., Howard, E., Ealing, J., Vassalo, G., Wallace, A.J., Newman, W., Huson, S.M.
Published in EBioMedicine (01.05.2016)
Published in EBioMedicine (01.05.2016)
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Journal Article
Cinacalcet as an adjunct in the successful treatment of calciphylaxis
Sharma, A., Burkitt-Wright, E., Rustom, R.
Published in British journal of dermatology (1951) (01.12.2006)
Published in British journal of dermatology (1951) (01.12.2006)
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Journal Article
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts
Dunnett-Kane, V., Burkitt-Wright, E., Blackhall, F.H., Malliri, A., Evans, D.G., Lindsay, C.R.
Published in Annals of oncology (01.07.2020)
Published in Annals of oncology (01.07.2020)
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Journal Article
Neurosurgical contribution within a complex NF1 supraregional service
Raffalli-Ebezant, H., George, K.J., Burkitt-Wright, E., Roncaroli, F., Evans, G., Soh, C., Ealing, J., Vassallo, G., Elloo, J.E., Karabatsou, K.
Published in Clinical neurology and neurosurgery (01.05.2019)
Published in Clinical neurology and neurosurgery (01.05.2019)
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Journal Article
Radial aplasia in CHARGE syndrome: A new association
Wright, E.M.M. Burkitt, O'Connor, R, Kerr, B.A
Published in European journal of medical genetics (01.07.2009)
Published in European journal of medical genetics (01.07.2009)
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Journal Article
Brittle cornea syndrome: current perspectives
Walkden, Andrew, Burkitt-Wright, Emma, Au, Leon
Published in Clinical ophthalmology (Auckland, N.Z.) (01.08.2019)
Published in Clinical ophthalmology (Auckland, N.Z.) (01.08.2019)
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Journal Article
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
Flex, Elisabetta, Jaiswal, Mamta, Pantaleoni, Francesca, Martinelli, Simone, Strullu, Marion, Fansa, Eyad K, Caye, Aurélie, De Luca, Alessandro, Lepri, Francesca, Dvorsky, Radovan, Pannone, Luca, Paolacci, Stefano, Zhang, Si-Cai, Fodale, Valentina, Bocchinfuso, Gianfranco, Rossi, Cesare, Burkitt-Wright, Emma M M, Farrotti, Andrea, Stellacci, Emilia, Cecchetti, Serena, Ferese, Rosangela, Bottero, Lisabianca, Castro, Silvana, Fenneteau, Odile, Brethon, Benoît, Sanchez, Massimo, Roberts, Amy E, Yntema, Helger G, Van Der Burgt, Ineke, Cianci, Paola, Bondeson, Marie-Louise, Cristina Digilio, Maria, Zampino, Giuseppe, Kerr, Bronwyn, Aoki, Yoko, Loh, Mignon L, Palleschi, Antonio, Di Schiavi, Elia, Carè, Alessandra, Selicorni, Angelo, Dallapiccola, Bruno, Cirstea, Ion C, Stella, Lorenzo, Zenker, Martin, Gelb, Bruce D, Cavé, Hélène, Ahmadian, Mohammad R, Tartaglia, Marco
Published in Human molecular genetics (15.08.2014)
Published in Human molecular genetics (15.08.2014)
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Journal Article
Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists
Wolf, Cordula M., Zenker, Martin, Burkitt-Wright, Emma, Edouard, Thomas, García-Miñaúr, Sixto, Lebl, Jan, Shaikh, Guftar, Tartaglia, Marco, Verloes, Alain, Östman-Smith, Ingegerd
Published in European journal of medical genetics (01.01.2022)
Published in European journal of medical genetics (01.01.2022)
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Journal Article
Brittle cornea syndrome: current perspectives [Response to Letter]
Walkden, Andrew, Burkitt-Wright, Emma, Au, Leon
Published in Clinical ophthalmology (Auckland, N.Z.) (01.09.2019)
Published in Clinical ophthalmology (Auckland, N.Z.) (01.09.2019)
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Journal Article
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey
Edouard, Thomas, Zenker, Martin, Östman-Smith, Ingegerd, Ortega Castelló, Eduardo, Wolf, Cordula M., Burkitt-Wright, Emma, Verloes, Alain, García-Miñaúr, Sixto, Tartaglia, Marco, Shaikh, Guftar, Lebl, Jan
Published in European journal of medical genetics (01.01.2022)
Published in European journal of medical genetics (01.01.2022)
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Journal Article
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe
García-Miñaúr, Sixto, Burkitt-Wright, Emma, Verloes, Alain, Shaikh, Guftar, Lebl, Jan, Östman-Smith, Ingegerd, Wolf, Cordula M., Ortega Castelló, Eduardo, Tartaglia, Marco, Zenker, Martin, Edouard, Thomas
Published in European journal of medical genetics (01.01.2022)
Published in European journal of medical genetics (01.01.2022)
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Journal Article
Cinacalcet as an adjunct in the successful treatment of calciphylaxis: Correspondence
Sharma, A., Burkitt-Wright, E., Rustom, R.
Published in British journal of dermatology (1951) (01.12.2006)
Published in British journal of dermatology (1951) (01.12.2006)
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Journal Article
VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype
Burkitt Wright, Emma M M, Perveen, Rahat, Bowers, Naomi, Ramsden, Simon, McCann, Emma, O'Driscoll, Mary, Lloyd, I Chris, Clayton-Smith, Jill, Black, Graeme C M
Published in British journal of ophthalmology (01.03.2010)
Published in British journal of ophthalmology (01.03.2010)
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Journal Article
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Steinmann, Beat, Black, Graeme C.M., Manson, Forbes D.C., Giunta, Cecilia
Published in Molecular genetics and metabolism (01.07.2013)
Published in Molecular genetics and metabolism (01.07.2013)
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Journal Article
Cinacalcet as an adjunct in the successful treatment of calciphylaxis
Sharma, A, Burkitt-Wright, E, Rustom, R
Published in The British journal of dermatology (01.12.2006)
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Published in The British journal of dermatology (01.12.2006)
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