Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family

por Jain, Vani, Feehally, John, Jones, Gabriela, Robertson, Lisa, Nair, Dheepa, Vasudevan, Pradeep
Publicado 2014

Estimating the clinical prevalence of Wilson’s disease in the UK

por Wijayasiri, Pramudi, Hayre, Jatinder, Nicholson, Edward S., Kaye, Philip, Wilkes, Emilie A., Evans, Jonathan, Aithal, Guruprasad P., Jones, Gabriela, Pearce, Fiona, Aravinthan, Aloysious D.
Publicado 2021

Jedi-1/MEGF12-mediated phagocytosis controls the pro-neurogenic properties of microglia in the ventricular-subventricular zone

por Morrison, Vivianne E., Houpert, Matthew G., Trapani, Jonathan B., Brockman, Asa A., Kingsley, Philip J., Katdare, Ketaki A., Layden, Hillary M., Nguena-Jones, Gabriela, Trevisan, Alexandra J., Maguire-Zeiss, Kathleen A., Marnett, Lawrence J., Bix, Gregory J., Ihrie, Rebecca A., Carter, Bruce D.
Publicado 2023

Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease

por Grove, Jane I., Lo, Peggy C.K., Shrine, Nick, Barwell, Julian, Wain, Louise V., Tobin, Martin D., Salter, Andrew M., Borkar, Aditi N., Cuevas-Ocaña, Sara, Bennett, Neil, John, Catherine, Ntalla, Ioanna, Jones, Gabriela E., Neal, Christopher P., Thomas, Mervyn G., Kuht, Helen, Gupta, Pankaj, Vemala, Vishwaraj M., Grant, Allister, Adewoye, Adeolu B., Shenoy, Kotacherry T., Balakumaran, Leena K., Hollox, Edward J., Hannan, Nicholas R.F., Aithal, Guruprasad P.
Publicado 2023

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

por Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe
Publicado 2018

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

por Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe
Publicado 2019