An analysis of surveillance screening for SDHB-related disease in childhood and adolescence

by Tufton, Nicola, Shapiro, Lucy, Sahdev, Anju, Kumar, Ajith V, Martin, Lee, Drake, William M, Akker, Scott A, Storr, Helen L
Published in Endocr Connect (2019)

Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family

by Marques, Pedro, Barry, Sayka, Ronaldson, Amy, Ogilvie, Arla, Storr, Helen L., Goadsby, Peter J., Powell, Michael, Dang, Mary N., Chahal, Harvinder S., Evanson, Jane, Kumar, Ajith V., Grieve, Joan, Korbonits, Márta
Published in Int J Endocrinol (2018)

Characterization of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutations in Familial Isolated Pituitary Adenoma Families

by Igreja, Susana, Chahal, Harvinder S, King, Peter, Bolger, Graeme B, Srirangalingam, Umasuthan, Guasti, Leonardo, Chapple, J Paul, Trivellin, Giampaolo, Gueorguiev, Maria, Guegan, Katie, Stals, Karen, Khoo, Bernard, Kumar, Ajith V, Ellard, Sian, Grossman, Ashley B, Korbonits, Márta
Published 2010

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

by McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V., Papandreou, Apostolos, Ngoh, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V., Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H., Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E., Chong, W.K. “Kling”, Cross, J. Helen, Topf, Maya, Petrou, Steven, Kurian, Manju A.
Published in Neurology (2018)

Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland

by Radian, Serban, Diekmann, Yoan, Gabrovska, Plamena, Holland, Brendan, Bradley, Lisa, Wallace, Helen, Stals, Karen, Bussell, Anna‐Marie, McGurren, Karen, Cuesta, Martin, Ryan, Anthony W., Herincs, Maria, Hernández‐Ramírez, Laura C., Holland, Aidan, Samuels, Jade, Aflorei, Elena Daniela, Barry, Sayka, Dénes, Judit, Pernicova, Ida, Stiles, Craig E., Trivellin, Giampaolo, McCloskey, Ronan, Ajzensztejn, Michal, Abid, Noina, Akker, Scott A., Mercado, Moises, Cohen, Mark, Thakker, Rajesh V., Baldeweg, Stephanie, Barkan, Ariel, Musat, Madalina, Levy, Miles, Orme, Stephen M., Unterländer, Martina, Burger, Joachim, Kumar, Ajith V., Ellard, Sian, McPartlin, Joseph, McManus, Ross, Linden, Gerard J., Atkinson, Brew, Balding, David J., Agha, Amar, Thompson, Chris J., Hunter, Steven J., Thomas, Mark G., Morrison, Patrick J., Korbonits, Márta
Published in Hum Mutat (2016)