Bruttini M - Search Results

1

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.

Benetti E, Tita R, Spiga O, Ciolfi A, Birolo G, Bruselles A, Doddato G, Giliberti A, Marconi C, Musacchia F, Pippucci T, Torella A, Trezza A, Valentino F, Baldassarri M, Brusco A, Asselta R, Bruttini M, Furini S, Seri M, Nigro V, Matullo G, Tartaglia M, Mari F; GEN-COVID Multicenter Study; Renieri A, Pinto AM. Benetti E, et al. Among authors: bruttini m. Eur J Hum Genet. 2020 Nov;28(11):1602-1614. doi: 10.1038/s41431-020-0691-z. Epub 2020 Jul 17. Eur J Hum Genet. 2020. PMID: 32681121 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: bruttini m. Nat Genet. 1995 May;10(1):13-9. doi: 10.1038/ng0595-13. Nat Genet. 1995. PMID: 7647783

3

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.

Schiaffino MV, Bassi MT, Galli L, Renieri A, Bruttini M, De Nigris F, Bergen AA, Charles SJ, Yates JR, Meindl A, et al. Schiaffino MV, et al. Among authors: bruttini m. Hum Mol Genet. 1995 Dec;4(12):2319-25. doi: 10.1093/hmg/4.12.2319. Hum Mol Genet. 1995. PMID: 8634705

4

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: bruttini m. 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.

5

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: bruttini m. 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.

6

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: bruttini m. Hum Mutat. 2001;18(1):85. doi: 10.1002/humu.1157. Hum Mutat. 2001. PMID: 11439001

7

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: bruttini m. Nat Genet. 2002 Apr;30(4):436-40. doi: 10.1038/ng857. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889465

8

Type-IV collagen related diseases.

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

9

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

Pescucci C, Meloni I, Bruttini M, Ariani F, Longo I, Mari F, Canitano R, Hayek G, Zappella M, Renieri A. Pescucci C, et al. Among authors: bruttini m. Clin Genet. 2003 Dec;64(6):497-501. doi: 10.1046/j.1399-0004.2003.00176.x. Clin Genet. 2003. PMID: 14986829

10

Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.

Gambelli S, Malandrini A, Ginanneschi F, Berti G, Cardaioli E, De Stefano R, Franci M, Salvadori C, Mari F, Bruttini M, Rossi A, Federico A, Renieri A. Gambelli S, et al. Among authors: bruttini m. Eur Neurol. 2004;51(3):144-7. doi: 10.1159/000077070. Epub 2004 Feb 27. Eur Neurol. 2004. PMID: 14988608

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