Andreucci E - Search Results

1

Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.

Formicola D, Podda I, Pantaleo M, Andreucci E, Lopergolo D, Giglio S, Santorelli FM, Chilosi A. Formicola D, et al. Among authors: andreucci e. Neuropediatrics. 2023 Dec;54(6):407-411. doi: 10.1055/s-0043-1771033. Epub 2023 Aug 7. Neuropediatrics. 2023. PMID: 37549685

2

Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion.

Traficante G, Biagiotti R, Andreucci E, Di Tommaso M, Provenzano A, Cariati E, Giglio S. Traficante G, et al. Among authors: andreucci e. Clin Case Rep. 2015 Jul;3(7):643-5. doi: 10.1002/ccr3.283. Epub 2015 Jun 11. Clin Case Rep. 2015. PMID: 26273461 Free PMC article.

3

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.

Carboni I, Andreucci E, Caruso MR, Ciccone R, Zuffardi O, Genuardi M, Pela I, Giglio S. Carboni I, et al. Among authors: andreucci e. Nephrol Dial Transplant. 2009 Sep;24(9):2734-8. doi: 10.1093/ndt/gfp160. Epub 2009 Apr 13. Nephrol Dial Transplant. 2009. PMID: 19364879

4

Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.

Giunti L, Cetica V, Ricci U, Giglio S, Sardi I, Paglierani M, Andreucci E, Sanzo M, Forni M, Buccoliero AM, Genitori L, Genuardi M. Giunti L, et al. Among authors: andreucci e. Eur J Hum Genet. 2009 Jul;17(7):919-27. doi: 10.1038/ejhg.2008.271. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156169 Free PMC article.

5

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: andreucci e. 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.

6

Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.

Bargiacchi S, Della Monica M, Biagiotti R, Andreucci E, Ciabattoni S, Poggi P, Di Maurizio M, Defilippi C, Cariati E, Giglio S. Bargiacchi S, et al. Among authors: andreucci e. Eur J Med Genet. 2017 Jul;60(7):365-368. doi: 10.1016/j.ejmg.2017.04.007. Epub 2017 Apr 13. Eur J Med Genet. 2017. PMID: 28414187

7

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Giangiobbe S, Caraffi SG, Ivanovski I, Maini I, Pollazzon M, Rosato S, Trimarchi G, Lauriello A, Marinelli M, Nicoli D, Baldo C, Laurie S, Flores-Daboub J, Provenzano A, Andreucci E, Peluso F, Rizzo R, Stewart H, Lachlan K, Bayat A, Napoli M, Carboni G, Baker J, Mendel A, Piatelli G, Pantaleoni C, Mattina T, Prontera P, Mendelsohn NJ, Giglio S, Zuffardi O, Garavelli L. Giangiobbe S, et al. Among authors: andreucci e. Am J Med Genet A. 2020 Dec;182(12):2877-2886. doi: 10.1002/ajmg.a.61859. Epub 2020 Oct 11. Am J Med Genet A. 2020. PMID: 33043602

8

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.

Andreucci E, Bianchi B, Carboni I, Lavoratti G, Mortilla M, Fonda C, Bigozzi M, Genuardi M, Giglio S, Pela I. Andreucci E, et al. Pediatr Nephrol. 2009 Nov;24(11):2147-53. doi: 10.1007/s00467-009-1261-3. Epub 2009 Jul 29. Pediatr Nephrol. 2009. PMID: 19639346

9

Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes.

Artuso R, Provenzano A, Mazzinghi B, Giunti L, Palazzo V, Andreucci E, Blasetti A, Chiuri RM, Gianiorio FE, Mandich P, Monami M, Mannucci E, Giglio S. Artuso R, et al. Among authors: andreucci e. Pharmacogenomics J. 2015 Feb;15(1):49-54. doi: 10.1038/tpj.2014.37. Epub 2014 Jul 22. Pharmacogenomics J. 2015. PMID: 25048417

10

Multiorgan infiltration by CD8+ T cells and 1p;16p translocation in a patient with hypogammaglobulinemia and a reduced number of B cells.

Vultaggio A, Matucci A, D'Elios MM, Andreucci E, Giglio S, Annunziato F, Zupo S, Maggi E. Vultaggio A, et al. Among authors: andreucci e. Int Arch Allergy Immunol. 2012;158(2):206-10. doi: 10.1159/000331117. Epub 2012 Jan 26. Int Arch Allergy Immunol. 2012. PMID: 22286841

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