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Year Number of Results
2001 1
2002 1
2003 2
2004 1
2008 1
2009 1
2013 1
2014 3
2015 2
2017 1
2022 0
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12 results
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Page 1
Evidence of digenic inheritance in Alport syndrome.
Mencarelli MA, Heidet L, Storey H, van Geel M, Knebelmann B, Fallerini C, Miglietti N, Antonucci MF, Cetta F, Sayer JA, van den Wijngaard A, Yau S, Mari F, Bruttini M, Ariani F, Dahan K, Smeets B, Antignac C, Flinter F, Renieri A. Mencarelli MA, et al. Among authors: miglietti n. J Med Genet. 2015 Mar;52(3):163-74. doi: 10.1136/jmedgenet-2014-102822. Epub 2015 Jan 9. J Med Genet. 2015. PMID: 25575550
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Recker F, Zaniew M, Böckenhauer D, Miglietti N, Bökenkamp A, Moczulska A, Rogowska-Kalisz A, Laube G, Said-Conti V, Kasap-Demir B, Niemirska A, Litwin M, Siteń G, Chrzanowska KH, Krajewska-Walasek M, Sethi SK, Tasic V, Anglani F, Addis M, Wasilewska A, Szczepańska M, Pawlaczyk K, Sikora P, Ludwig M. Recker F, et al. Among authors: miglietti n. Pediatr Nephrol. 2015 Jun;30(6):931-43. doi: 10.1007/s00467-014-3013-2. Epub 2014 Dec 6. Pediatr Nephrol. 2015. PMID: 25480730
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V, Provenzano A, Becherucci F, Sansavini G, Mazzinghi B, Orlandini V, Giunti L, Roperto RM, Pantaleo M, Artuso R, Andreucci E, Bargiacchi S, Traficante G, Stagi S, Murer L, Benetti E, Emma F, Giordano M, Rivieri F, Colussi G, Penco S, Manfredini E, Caruso MR, Garavelli L, Andrulli S, Vergine G, Miglietti N, Mancini E, Malaventura C, Percesepe A, Grosso E, Materassi M, Romagnani P, Giglio S. Palazzo V, et al. Among authors: miglietti n. Kidney Int. 2017 May;91(5):1243-1255. doi: 10.1016/j.kint.2016.12.017. Epub 2017 Feb 21. Kidney Int. 2017. PMID: 28233610 Free article.
Cardiomyopathy in a male patient with neutropenia and growth delay.
Folsi V, Miglietti N, Lombardi A, Boccacci S, Utyatnikova T, Donati C, Squassabia L, Gazzola L, Bosio I, Borghi A, Grassi V, Notarangelo LD, Plebani A. Folsi V, et al. Among authors: miglietti n. Ital J Pediatr. 2014 May 12;40:45. doi: 10.1186/1824-7288-40-45. Ital J Pediatr. 2014. PMID: 24887148 Free PMC article.
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
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 GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, Mari F, Bruttini M, Renieri A, Ariani F. Fallerini C, et al. Among authors: miglietti n. Clin Genet. 2014 Sep;86(3):252-7. doi: 10.1111/cge.12258. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 24033287
Broadening the spectrum of diseases related to podocin mutations.
Caridi G, Bertelli R, Di Duca M, Dagnino M, Emma F, Onetti Muda A, Scolari F, Miglietti N, Mazzucco G, Murer L, Carrea A, Massella L, Rizzoni G, Perfumo F, Ghiggeri GM. Caridi G, et al. Among authors: miglietti n. J Am Soc Nephrol. 2003 May;14(5):1278-86. doi: 10.1097/01.asn.0000060578.79050.e0. J Am Soc Nephrol. 2003. PMID: 12707396 Free article.
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
Syrén ML, Tedeschi S, Cesareo L, Bellantuono R, Colussi G, Procaccio M, Alì A, Domenici R, Malberti F, Sprocati M, Sacco M, Miglietti N, Edefonti A, Sereni F, Casari G, Coviello DA, Bettinelli A. Syrén ML, et al. Among authors: miglietti n. Hum Mutat. 2002 Jul;20(1):78. doi: 10.1002/humu.9045. Hum Mutat. 2002. PMID: 12112667
12 results