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Start Over Author "Bullich, Gemma" Journal american journal of kidney diseases
3 results on '"Bullich, Gemma"'

1. Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study

Author

Furlano, Mónica, primary, Martínez, Victor, additional, Pybus, Marc, additional, Arce, Yolanda, additional, Crespí, Jaume, additional, Venegas, María del Prado, additional, Bullich, Gemma, additional, Domingo, Andrea, additional, Ayasreh, Nadia, additional, Benito, Silvia, additional, Lorente, Laura, additional, Ruíz, Patricia, additional, Gonzalez, Vanesa López, additional, Arlandis, Rosa, additional, Cabello, Elisa, additional, Torres, Ferran, additional, Guirado, Lluis, additional, Ars, Elisabet, additional, and Torra, Roser, additional

Published
2021
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2. Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1

Author

Ayasreh, Nadia, primary, Bullich, Gemma, additional, Miquel, Rosa, additional, Furlano, Mónica, additional, Ruiz, Patricia, additional, Lorente, Laura, additional, Valero, Oliver, additional, García-González, Miguel Angel, additional, Arhda, Nisrine, additional, Garin, Intza, additional, Martínez, Víctor, additional, Pérez-Gómez, Vanessa, additional, Fulladosa, Xavier, additional, Arroyo, David, additional, Martínez-Vea, Alberto, additional, Espinosa, Mario, additional, Ballarín, Jose, additional, Ars, Elisabet, additional, and Torra, Roser, additional

Published
2018
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3. Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMODand ADTKD-MUC1

Author

Ayasreh, Nadia, Bullich, Gemma, Miquel, Rosa, Furlano, Mónica, Ruiz, Patricia, Lorente, Laura, Valero, Oliver, García-González, Miguel Angel, Arhda, Nisrine, Garin, Intza, Martínez, Víctor, Pérez-Gómez, Vanessa, Fulladosa, Xavier, Arroyo, David, Martínez-Vea, Alberto, Espinosa, Mario, Ballarín, Jose, Ars, Elisabet, and Torra, Roser

Abstract

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare underdiagnosed cause of end-stage renal disease (ESRD). ADTKD is caused by mutations in at least 4 different genes: MUC1, UMOD, HNF1B, and REN.

Published
2018
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