Renieri A - Search Results

1

Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.

Baldassarri M, Zguro K, Tomati V, Pastorino C, Fava F, Croci S, Bruttini M, Picchiotti N, Furini S, Pedemonte N, Gabbi C, Renieri A, Fallerini C; Gen-Covid Multicenter Study. Baldassarri M, et al. Among authors: renieri a. Cells. 2022 Dec 16;11(24):4096. doi: 10.3390/cells11244096. Cells. 2022. PMID: 36552859 Free PMC article.

2

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.

Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A. Bassi MT, et al. Among authors: renieri a. Nat Genet. 1995 May;10(1):13-9. doi: 10.1038/ng0595-13. Nat Genet. 1995. PMID: 7647783

3

Evidence for genetic heterogeneity in benign familial hematuria.

Piccini M, Casari G, Zhou J, Bruttini M, Volti SL, Ballabio A, Renieri A. Piccini M, et al. Among authors: renieri a. Am J Nephrol. 1999;19(4):464-7. doi: 10.1159/000013499. Am J Nephrol. 1999. PMID: 10460935

4

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

Meloni I, Rubegni P, De Aloe G, Bruttini M, Pianigiani E, Cusano R, Seri M, Mondillo S, Federico A, Bardelli AM, Andreassi L, Fimiani M, Renieri A. Meloni I, et al. Among authors: renieri a. Hum Mutat. 2001;18(1):85. doi: 10.1002/humu.1157. Hum Mutat. 2001. PMID: 11439001

5

Type-IV collagen related diseases.

Pescucci C, Longo I, Bruttini M, Mari F, Renieri A. Pescucci C, et al. Among authors: renieri a. J Nephrol. 2003 Mar-Apr;16(2):314-6. J Nephrol. 2003. PMID: 12768082 Review.

6

Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.

Bruttini M, Longo I, Frezzotti P, Ciappetta R, Randazzo A, Orzalesi N, Fumagalli E, Caporossi A, Frezzotti R, Renieri A. Bruttini M, et al. Among authors: renieri a. Arch Ophthalmol. 2003 Jul;121(7):1034-8. doi: 10.1001/archopht.121.7.1034. Arch Ophthalmol. 2003. PMID: 12860809

7

[Clinical and genetic features of the Alport 'syndromes'].

Pescucci C, Longo I, Mari F, Scala E, Bruttini M, Caselli R, Renieri A. Pescucci C, et al. Among authors: renieri a. G Ital Nefrol. 2005 Sep-Oct;22(5):466-76. G Ital Nefrol. 2005. PMID: 16267804 Review. Italian.

8

RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome.

Micheli V, Sestini S, Parri V, Fichera M, Romano C, Ariani F, Longo I, Mari F, Bruttini M, Renieri A, Meloni I. Micheli V, et al. Among authors: renieri a. Clin Chim Acta. 2007 Sep;384(1-2):35-40. doi: 10.1016/j.cca.2007.05.016. Epub 2007 May 26. Clin Chim Acta. 2007. PMID: 17586481

9

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F. Marcocci E, et al. Among authors: renieri a. Nephrol Dial Transplant. 2009 May;24(5):1464-71. doi: 10.1093/ndt/gfn681. Epub 2009 Jan 7. Nephrol Dial Transplant. 2009. PMID: 19129241 Free article.

10

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

Uliana V, Marcocci E, Mucciolo M, Meloni I, Izzi C, Manno C, Bruttini M, Mari F, Scolari F, Renieri A, Salviati L. Uliana V, et al. Among authors: renieri a. Pediatr Nephrol. 2011 May;26(5):717-24. doi: 10.1007/s00467-010-1693-9. Epub 2010 Dec 14. Pediatr Nephrol. 2011. PMID: 21380622

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