A novel CD46 mutation in a patient with microangiopathy clinically resembling thrombotic thrombocytopenic purpura and normal ADAMTS13 activity

von Rossio, Raffaella, Lotta, Luca Andrea, Pontiggia, Silvia, Borsa, Nicolò Ghiringhelli, Garagiola, Isabella, Ardissino, Gianluigi, Mikovic, Danijela, Cugno, Massimo, Peyvandi, Flora
Veröffentlicht in Haematologica (2015)

C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab

von Garg, Neetika, Zhang, Yuzhou, Nicholson-Weller, Anne, Khankin, Eliyahu V, Borsa, Nicolò Ghiringhelli, Meyer, Nicole C, McDermott, Susan, Stillman, Isaac E, Rennke, Helmut G, Smith, Richard J, Pavlakis, Martha
Veröffentlicht in Nephrol Dial Transplant (2018)

Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome

von Bu, Fengxiao, Zhang, Yuzhou, Wang, Kai, Borsa, Nicolo Ghiringhelli, Jones, Michael B., Taylor, Amanda O., Takanami, Erika, Meyer, Nicole C., Frees, Kathy, Thomas, Christie P., Nester, Carla, Smith, Richard J.H.
Veröffentlicht in J Am Soc Nephrol (2018)

Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndrome

von Zhang, Yuzhou, Kremsdorf, Robin, Sperati, C. John, Henriksen, Kammi J, Mori, Mari, Goodfellow, Renee X, Pitcher, Gabriella R, Benson, Cindy, Borsa, Nicolo Ghiringhelli, Taylor, Ronald P, Nester, Carla M, Smith, Richard JH
Veröffentlicht in Kidney Int (2020)

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies

von Bu, Fengxiao, Borsa, Nicolo Ghiringhelli, Jones, Michael B., Takanami, Erika, Nishimura, Carla, Hauer, Jill J., Azaiez, Hela, Black-Ziegelbein, Elizabeth A., Meyer, Nicole C., Kolbe, Diana L., Li, Yingyue, Frees, Kathy, Schnieders, Michael J., Thomas, Christie, Nester, Carla, Smith, Richard J.H.
Veröffentlicht in J Am Soc Nephrol (2016)

Statistical validation of rare complement variants provides insights on the molecular basis of atypical haemolytic uraemic syndrome and C3 glomerulopathy

von Osborne, Amy J., Breno, Matteo, Borsa, Nicolo Ghiringhelli, Bu, Fengxiao, Frémeaux-Bacchi, Véronique, Gale, Daniel P., van den Heuvel, Lambertus P., Kavanagh, David, Noris, Marina, Pinto, Sheila, Rallapalli, Pavithra M., Remuzzi, Giuseppe, de Cordoba, Santiago Rodríguez, Ruiz, Angela, Smith, Richard J. H., Vieira-Martins, Paula, Volokhina, Elena, Wilson, Valerie, Goodship, Timothy H. J., Perkins, Stephen J.
Veröffentlicht in J Immunol (2018)