Renal cancer associated with recurrent spontaneous pneumothorax in Birt-Hogg-Dubé syndrome: a case report and review of the literature

por Warwick, Geoffrey, Izatt, Louise, Sawicka, Elizabeth
Publicado 2010

Somatic EPAS1 Variants in Pheochromocytoma and Paraganglioma in Patients With Sickle Cell Disease

por White, Gemma, Nonaka, Daisuke, Chung, Teng-Teng, Oakey, Rebecca J, Izatt, Louise
Publicado 2023

Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy

por Maltese, Giuseppe, Izatt, Louise, McGowan, Barbara M., Hafeez, Kashif, Hubbard, Johnathan G., Carroll, Paul V.
Publicado 2017

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer

por Loveday, Chey, Josephs, Katherine, Chubb, Daniel, Gunning, Adam, Izatt, Louise, Tischkowitz, Marc, Ellard, Sian, Turnbull, Clare
Publicado 2018

Deficiency of the Cyclin-Dependent Kinase Inhibitor, CDKN1B, Results in Overgrowth and Neurodevelopmental Delay

por Grey, William, Izatt, Louise, Sahraoui, Wafa, Ng, Yiu-Ming, Ogilvie, Caroline, Hulse, Anthony, Tse, Eric, Holic, Roman, Yu, Veronica
Publicado 2013

SUN-344 SDHB Immunostaining: Still an Indispensable Tool in Characterising Pheochromocytoma and Paraganglioma

por Velusamy, Anand, Moonim, Mufaddal, Hubbard, Johnathan, McGowan, Barbara, Powrie, Jake, Izatt, Louise, Obholzer, Rupert, Jacques, Audrey, Breen, Louise, Carroll, Paul
Publicado 2019

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance

por Ozgencil, Meryem, Barwell, Julian, Tischkowitz, Marc, Izatt, Louise, Kesterton, Ian, Simpson, Michael, Sharpe, Paul, de Sepulveda, Paulo, Voisset, Edwige, Solomon, Ellen
Publicado 2021

UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

por Hanson, Helen, Brady, Angela F, Crawford, Gillian, Eeles, Rosalind A, Gibson, Sarah, Jorgensen, Mette, Izatt, Louise, Sohaib, Aslam, Tischkowitz, Marc, Evans, D Gareth
Publicado 2021

Gene promoter hypermethylation in ductal lavage fluid from healthy BRCA gene mutation carriers and mutation-negative controls

por Locke, Imogen, Kote-Jarai, Zsofia, Jo Fackler, Mary, Bancroft, Elizabeth, Osin, Peter, Nerurkar, Ashutosh, Izatt, Louise, Pichert, Gabriella, Gui, Gerald PH, Eeles, Rosalind A
Publicado 2007

MON-924 Susceptibility Genetic Testing and Functional Imaging Modalities in the Management of Bladder Paragangliomas

por Anandappa, Samantha, Joshi, Mamta, Breen, Louise A, Thurairaja, Ramesh, Christodoulou, Dimitra, Jacques, Audrey, McGowan, Barbara Maria Cristina, Izatt, Louise, Velusamy, Anand, Carroll, Paul V
Publicado 2020

Paediatric differentiated thyroid carcinoma: a UK National Clinical Practice Consensus Guideline

por Howard, Sasha R, Freeston, Sarah, Harrison, Barney, Izatt, Louise, Natu, Sonali, Newbold, Kate, Pomplun, Sabine, Spoudeas, Helen A, Wilne, Sophie, Kurzawinski, Tom R, Gaze, Mark N
Publicado 2022

Using Multimodal Functional Imaging in the Management of SDHx-Related Pheochromocytoma and Paraganglioma

por White, Gemma, Anandappa, Samantha, Masucci, Michael, Hassan, Fahim-Ul, Breen, Louise, Joshi, Mamta, McGowan, Barbara, Hubbard, Jonathan, Obholzer, Rupert, Touska, Philip, Izatt, Louise, Velusamy, Anand, Carroll, Paul
Publicado 2021

The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

por Evans, D Gareth R, Barwell, Julian, Eccles, Diana M, Collins, Amanda, Izatt, Louise, Jacobs, Chris, Donaldson, Alan, Brady, Angela F, Cuthbert, Andrew, Harrison, Rachel, Thomas, Sue, Howell, Anthony, Miedzybrodzka, Zosia, Murray, Alex
Publicado 2014

Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers

por White, Gemma, Velusamy, Anand, Anandappa, Samantha, Masucci, Michael, Breen, Louise A, Joshi, Mamta, McGowan, Barbara, Hubbard, Johnathan G H, Obholzer, Rupert, Christodoulou, Dimitra, Jacques, Audrey, Touska, Philip, Hassan, Fahim-Ul, Izatt, Louise, Carroll, Paul V
Publicado 2022

Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)

por Ahmed, S. Faisal, Achermann, John C., Arlt, Wiebke, Balen, Adam, Conway, Gerry, Edwards, Zoe, Elford, Sue, Hughes, Ieuan A., Izatt, Louise, Krone, Nils, Miles, Harriet, O'Toole, Stuart, Perry, Les, Sanders, Caroline, Simmonds, Margaret, Watt, Andrew, Willis, Debbie
Publicado 2015

Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort

por Winzeler, Bettina, Tufton, Nicola, S. Lim, Eugenie, Challis, Ben G., Park, Soo‐Mi, Izatt, Louise, Carroll, Paul V., Velusamy, Anand, Hulse, Tony, Whitelaw, Benjamin C., Martin, Ezequiel, Rodger, Fay, Maranian, Melanie, Clark, Graeme R., A. Akker, Scott, Maher, Eamonn R., Casey, Ruth T.
Publicado 2021

2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma

por Lebbink, Chantal A, Links, Thera P, Czarniecka, Agnieszka, Dias, Renuka P, Elisei, Rossella, Izatt, Louise, Krude, Heiko, Lorenz, Kerstin, Luster, Markus, Newbold, Kate, Piccardo, Arnoldo, Sobrinho-Simões, Manuel, Takano, Toru, Paul van Trotsenburg, A S, Verburg, Frederik A, van Santen, Hanneke M
Publicado 2022

UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development

por Ahmed, S Faisal, Achermann, John C, Arlt, Wiebke, Balen, Adam H, Conway, Gerry, Edwards, Zoe L, Elford, Sue, Hughes, Ieuan A, Izatt, Louise, Krone, Nils, Miles, Harriet L, O'Toole, Stuart, Perry, Les, Sanders, Caroline, Simmonds, Margaret, Wallace, A Michael, Watt, Andrew, Willis, Debbie
Publicado 2011

UK recommendations for SDHA germline genetic testing and surveillance in clinical practice

por Hanson, Helen, Durkie, Miranda, Lalloo, Fiona, Izatt, Louise, McVeigh, Terri P, Cook, Jackie A, Brewer, Carole, Drummond, James, Butler, Samantha, Cranston, Treena, Casey, Ruth, Tan, Tricia, Morganstein, Daniel, Eccles, Diana M, Tischkowitz, Marc, Turnbull, Clare, Woodward, Emma Roisin, Maher, Eamonn R
Publicado 2023

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

por Casey, Ruth T., Ascher, David B., Rattenberry, Eleanor, Izatt, Louise, Andrews, Katrina A., Simpson, Helen L., Challis, Benjamen, Park, Soo‐Mi, Bulusu, Venkata R., Lalloo, Fiona, Pires, Douglas E. V., West, Hannah, Clark, Graeme R., Smith, Philip S., Whitworth, James, Papathomas, Thomas G., Taniere, Phillipe, Savisaar, Rosina, Hurst, Laurence D., Woodward, Emma R., Maher, Eamonn R.
Publicado 2017