Literature DB >> 29482283

The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes.

Davide Viggiano1,2, Miriam Zacchia1, Francesca Simonelli3, Valentina Di Iorio3, Pietro Anastasio1, Giovambattista Capasso1, Natale G De Santo4.   

Abstract

Entities:  

Mesh：

Year:  2018        PMID： 29482283

Source DB:  PubMed          Journal:  G Ital Nefrol        ISSN： 0393-5590


× No keyword cloud information.
  2 in total

1.  Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.

Authors:  Miriam Zacchia; Francesca Del Vecchio Blanco; Annalaura Torella; Raffaele Raucci; Giancarlo Blasio; Maria Elena Onore; Emanuela Marchese; Francesco Trepiccione; Caterina Vitagliano; Valentina Di Iorio; Perna Alessandra; Francesca Simonelli; Vincenzo Nigro; Giovambattista Capasso; Davide Viggiano
Journal:  Clin Kidney J       Date:  2020-12-06

2.  Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Authors:  Miriam Zacchia; Francesca Del Vecchio Blanco; Francesco Trepiccione; Giancarlo Blasio; Annalaura Torella; Andrea Melluso; Giovanna Capolongo; Rosa Maria Pollastro; Giulio Piluso; Valentina Di Iorio; Francesca Simonelli; Davide Viggiano; Alessandra Perna; Vincenzo Nigro; Giovambattista Capasso
Journal:  J Nephrol       Date:  2021-05-08       Impact factor: 3.902
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.