Renieri A - Search Results

1

Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women.

Monticelli M, Hay Mele B, Benetti E, Fallerini C, Baldassarri M, Furini S, Frullanti E, Mari F, Andreotti G, Cubellis MV, Renieri A; Gen-Covid Multicenter Study. Monticelli M, et al. Among authors: renieri a. Genes (Basel). 2021 Apr 19;12(4):596. doi: 10.3390/genes12040596. Genes (Basel). 2021. PMID: 33921689 Free PMC article.

2

Preserved speech variant is allelic of classic Rett syndrome.

De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R, Loffredo P, Longo I, Renieri A. De Bona C, et al. Among authors: renieri a. Eur J Hum Genet. 2000 May;8(5):325-30. doi: 10.1038/sj.ejhg.5200473. Eur J Hum Genet. 2000. PMID: 10854091 Free article.

3

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

Meloni I, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P, Denvriendt K, Fryns JP, Toniolo D, Renieri A. Meloni I, et al. Among authors: renieri a. Am J Hum Genet. 2000 Oct;67(4):982-5. doi: 10.1086/303078. Epub 2000 Sep 12. Am J Hum Genet. 2000. PMID: 10986043 Free PMC article.

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

Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

Zappella M, Meloni I, Longo I, Hayek G, Renieri A. Zappella M, et al. Among authors: renieri a. Am J Med Genet. 2001 Nov 15;104(1):14-22. doi: 10.1002/ajmg.10005. Am J Med Genet. 2001. PMID: 11746022

6

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.

Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A. Meloni I, et al. Among authors: renieri a. Nat Genet. 2002 Apr;30(4):436-40. doi: 10.1038/ng857. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889465

7

Study of MECP2 gene in Rett syndrome variants and autistic girls.

Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A. Zappella M, et al. Among authors: renieri a. Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):102-7. doi: 10.1002/ajmg.b.10070. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 12707946

8

Rett syndrome: the complex nature of a monogenic disease.

Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F. Renieri A, et al. J Mol Med (Berl). 2003 Jun;81(6):346-54. doi: 10.1007/s00109-003-0444-9. Epub 2003 May 16. J Mol Med (Berl). 2003. PMID: 12750821 Review.

9

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.

10

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

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