Meloni I - Search Results

1

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Among authors: meloni i. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 Free PMC article.

2

Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3.

Vitelli F, Meloni I, Fineschi S, Favara F, Tiziana Storlazzi C, Rocchi M, Renieri A. Vitelli F, et al. Among authors: meloni i. Cytogenet Cell Genet. 2000;88(3-4):259-63. doi: 10.1159/000015533. Cytogenet Cell Genet. 2000. PMID: 10828604

3

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: meloni i. 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.

4

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. 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.

5

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

6

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: meloni i. Am J Med Genet. 2001 Nov 15;104(1):14-22. doi: 10.1002/ajmg.10005. Am J Med Genet. 2001. PMID: 11746022

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

8

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

Seri M, Savino M, Bordo D, Cusano R, Rocca B, Meloni I, Di Bari F, Koivisto PA, Bolognesi M, Ghiggeri GM, Landolfi R, Balduini CL, Zelante L, Ravazzolo R, Renieri A, Savoia A. Seri M, et al. Among authors: meloni i. Hum Genet. 2002 Feb;110(2):182-6. doi: 10.1007/s00439-001-0659-1. Epub 2001 Dec 14. Hum Genet. 2002. PMID: 11935325

9

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.

Longo I, Frints SG, Fryns JP, Meloni I, Pescucci C, Ariani F, Borghgraef M, Raynaud M, Marynen P, Schwartz C, Renieri A, Froyen G. Longo I, et al. Among authors: meloni i. J Med Genet. 2003 Jan;40(1):11-7. doi: 10.1136/jmg.40.1.11. J Med Genet. 2003. PMID: 12525535 Free PMC article.

10

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: meloni i. 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

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