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

ανά Tufton, Nicola, Shapiro, Lucy, Sahdev, Anju, Kumar, Ajith V, Martin, Lee, Drake, William M, Akker, Scott A, Storr, Helen L
Τόπος έκδοσης 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

ανά 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
Τόπος έκδοσης Int J Endocrinol (2018)

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

ανά 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
Έκδοση 2010

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

ανά 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.
Τόπος έκδοσης Neurology (2018)

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

ανά 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
Τόπος έκδοσης Hum Mutat (2016)