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Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.
Published in:
Clinical Genetics, 2017, v. 92, n. 2, p. 224, doi. 10.1111/cge.12960
By:
- Gigante, M.;
- Diella, S.;
- Santangelo, L.;
- Trevisson, E.;
- Acosta, M.J.;
- Amatruda, M.;
- Finzi, G.;
- Caridi, G.;
- Murer, L.;
- Accetturo, M.;
- Ranieri, E.;
- Ghiggeri, G.M.;
- Giordano, M.;
- Grandaliano, G.;
- Salviati, L.;
- Gesualdo, L.
Publication type:
Article
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
Published in:
Clinical Genetics, 2014, v. 86, n. 3, p. 252, doi. 10.1111/cge.12258
By:
- Fallerini, C.;
- Dosa, L.;
- Tita, R.;
- Del Prete, D.;
- Feriozzi, S.;
- Gai, G.;
- Clementi, M.;
- La Manna, A.;
- Miglietti, N.;
- Mancini, R.;
- Mandrile, G.;
- Ghiggeri, G.M.;
- Piaggio, G.;
- Brancati, F.;
- Diano, L.;
- Frate, E.;
- Pinciaroli, A.R.;
- Giani, M.;
- Castorina, P.;
- Bresin, E.
Publication type:
Article
Literature Abstracts.
Published in:
2001
By:
- Gharavi, A.G.;
- Yan, Y.;
- Scolari, F.;
- Schena, F.P.;
- Frasca, G.M.;
- Ghiggeri, G.M.;
- Cooper, K.;
- Amoroso, A.;
- Viola, B.F.;
- Battini, G.;
- Caridi, G.;
- Canova, C.;
- Farhi, A.;
- Subramanian, V.;
- Nelson-Williams, C.;
- Woodword, S.;
- Julian, B.A.;
- Wyatt, R.J.;
- Lifton, R.P.
Publication type:
Abstract
Literature Abstracts.
Published in:
2001
By:
- Candiano, G.;
- Musante, L.;
- Carraro, M.;
- Faccini, L.;
- Campanacci, L.;
- Zennaro, C.;
- Artero, M.;
- Ginevri, F.;
- Perfumo, F.;
- Gusmano, R.;
- Ghiggeri, G.M.;
- Patrakka, J.;
- Kestila, M.;
- Wartiovaara, J.;
- Ruotsalainen, V.;
- Tissari, P.;
- Lenkkeri, U.;
- Mannikko, M.;
- Visapaa, I.
Publication type:
Abstract
Nephrotic urine prevents increased rat glomerular albumin permeability induced by serum from the same patient with idiopathic nephrotic syndrome.
Published in:
Nephrology Dialysis Transplantation, 2003, v. 18, n. 4, p. 689, doi. 10.1093/ndt/gfg013
By:
- M. Carraro;
- C. Zennaro;
- G. Candiano;
- L. Musante;
- M. Bruschi;
- G.M. Ghiggeri;
- M. Artero;
- L. Faccini
Publication type:
Article

Found: 5

Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.

Literature Abstracts.

Literature Abstracts.

Nephrotic urine prevents increased rat glomerular albumin permeability induced by serum from the same patient with idiopathic nephrotic syndrome.