Meloni C - Search Results

1

An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.

Addis M, Meloni C, Tosetto E, Ceol M, Cristofaro R, Melis MA, Vercelloni P, Del Prete D, Marra G, Anglani F. Addis M, et al. Among authors: meloni c. Eur J Hum Genet. 2013 Jun;21(6):687-90. doi: 10.1038/ejhg.2012.225. Epub 2012 Oct 10. Eur J Hum Genet. 2013. PMID: 23047739 Free PMC article.

2

Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.

Tosetto E, Addis M, Caridi G, Meloni C, Emma F, Vergine G, Stringini G, Papalia T, Barbano G, Ghiggeri GM, Ruggeri L, Miglietti N, D Angelo A, Melis MA, Anglani F. Tosetto E, et al. Among authors: meloni c. Pediatr Nephrol. 2009 Oct;24(10):1967-73. doi: 10.1007/s00467-009-1228-4. Epub 2009 Jul 7. Pediatr Nephrol. 2009. PMID: 19582483

3

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

Cau M, Addis M, Congiu R, Meloni C, Cao A, Santaniello S, Loi M, Emma F, Zuffardi O, Ciccone R, Sole G, Melis MA. Cau M, et al. Among authors: meloni c. J Hum Genet. 2006;51(11):1030-1036. doi: 10.1007/s10038-006-0049-6. Epub 2006 Sep 6. J Hum Genet. 2006. PMID: 16955230

4

A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.

Addis M, Meloni C, Congiu R, Santaniello S, Emma F, Zuffardi O, Ciccone R, Cao A, Melis MA, Cau M. Addis M, et al. Among authors: meloni c. Eur J Med Genet. 2007 Jan-Feb;50(1):79-84. doi: 10.1016/j.ejmg.2006.10.003. Epub 2006 Nov 10. Eur J Med Genet. 2007. PMID: 17142121

5

C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.

Cau M, Loi M, Melis M, Congiu R, Loi A, Meloni C, Serrenti M, Addis M, Melis MA. Cau M, et al. Among authors: meloni c. Eur J Med Genet. 2009 Sep-Oct;52(5):344-8. doi: 10.1016/j.ejmg.2009.05.002. Epub 2009 May 18. Eur J Med Genet. 2009. PMID: 19454328

6

Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1.

Addis M, Serrenti M, Meloni C, Cau M, Melis MA. Addis M, et al. Among authors: meloni c. Genet Test Mol Biomarkers. 2012 Dec;16(12):1428-31. doi: 10.1089/gtmb.2012.0218. Epub 2012 Oct 2. Genet Test Mol Biomarkers. 2012. PMID: 23030650

7

An Na-23 and P-31 NMR investigation of sonicated cardiolipin sodium salt in aqueous medium.

Lai A, Casu M, Meloni C, Muscatello U. Lai A, et al. Among authors: meloni c. Biochem Biophys Res Commun. 1989 Jun 30;161(3):979-86. doi: 10.1016/0006-291x(89)91339-9. Biochem Biophys Res Commun. 1989. PMID: 2742595

8

NMR spin-lattice relaxation times of intracellular Na-23 on rat livers and related lipid peroxidation following CCl4 intoxication.

Banni S, Casu M, Corongiu FP, Dessi MA, Lai A, Meloni C. Banni S, et al. Among authors: meloni c. Chem Biol Interact. 1987;63(3):207-14. doi: 10.1016/0009-2797(87)90041-x. Chem Biol Interact. 1987. PMID: 3677218

9

Digital vs formal teaching of vaginal breech delivery: Which is the residents' choice?

Salvani G, Matarrelli B, Prefumo F, Rosati M, Meloni C, Celentano C. Salvani G, et al. Among authors: meloni c. Eur J Obstet Gynecol Reprod Biol. 2024 Dec;303:345-348. doi: 10.1016/j.ejogrb.2024.11.004. Epub 2024 Nov 5. Eur J Obstet Gynecol Reprod Biol. 2024. PMID: 39522186 Free article. Clinical Trial.

10

Innovation, simplification, and adherence to real life, 2024 ESC guidelines of elevated blood pressure and hypertension claimed for.

Ambrosetti M, Loguercio M, Maresca L, Meloni C, Zaniboni D. Ambrosetti M, et al. Among authors: meloni c. Int J Cardiol Cardiovasc Risk Prev. 2024 Sep 19;23:200335. doi: 10.1016/j.ijcrp.2024.200335. eCollection 2024 Dec. Int J Cardiol Cardiovasc Risk Prev. 2024. PMID: 39351168 Free PMC article.

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