Covone AE - Search Results

1

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

Cabrita Pinto RL, Viaggi S, Canale E, Martinez Popple M, Capra V, Conteduca G, Testa B, Coviello D, Covone AE. Cabrita Pinto RL, et al. Among authors: covone ae. Genes (Basel). 2023 Mar 28;14(4):810. doi: 10.3390/genes14040810. Genes (Basel). 2023. PMID: 37107568 Free PMC article.

2

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.

Covone AE, Fiorillo C, Acquaviva M, Trucco F, Morana G, Ravazzolo R, Minetti C. Covone AE, et al. Clin Genet. 2016 Aug;90(2):182-5. doi: 10.1111/cge.12730. Epub 2016 Feb 10. Clin Genet. 2016. PMID: 27406698

3

IL12RB2 Polymorphisms correlate with risk of lung adenocarcinoma.

Prigione I, Covone AE, Giacopelli F, Bocca P, Risso M, Tripodi G, Pistorio A, Sozzi G, Airoldi I, Ravazzolo R, Pistoia V. Prigione I, et al. Among authors: covone ae. Immunobiology. 2016 Feb;221(2):291-9. doi: 10.1016/j.imbio.2015.10.006. Epub 2015 Oct 29. Immunobiology. 2016. PMID: 26547104

4

Periostin gene variants are associated with disease course and severity in juvenile idiopathic arthritis.

Covone AE, Solari N, Malattia C, Pop V, Martini A, Ravelli A, Ravazzolo R. Covone AE, et al. Clin Exp Rheumatol. 2014 Sep-Oct;32(5):747-53. Epub 2014 Sep 19. Clin Exp Rheumatol. 2014. PMID: 25236364

5

A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.

Crovella S, Segat L, Amato A, Athanasakis E, Bezzerri V, Braggion C, Casciaro R, Castaldo G, Colombo C, Covone AE, De Rose V, Gagliardini R, Lanzara C, Minicucci L, Morgutti M, Nicolis E, Pardo F, Quattrucci S, Raia V, Ravazzolo R, Seia M, Stanzial V, Termini L, Zazzeron L, Cabrini G, Gasparini P. Crovella S, et al. Among authors: covone ae. Clin Chem Lab Med. 2011 Jan;49(1):49-54. doi: 10.1515/CCLM.2011.023. Epub 2010 Nov 16. Clin Chem Lab Med. 2011. PMID: 21077791

6

Sex chromosome rearrangements leading to partial aneuploidies and mosaicisms: use of QF-PCR for detection and quantification of the involved cell lines.

Covone AE, Voglino G, Ravazzolo R. Covone AE, et al. Int J Mol Med. 2004 Oct;14(4):743-6. Int J Mol Med. 2004. PMID: 15375611

7

SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.

Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, Cappa V, Covone AE, Romeo G, D'Urso M. Nigro V, et al. Among authors: covone ae. Hum Mol Genet. 1995 Oct;4(10):2003-4. doi: 10.1093/hmg/4.10.2003. Hum Mol Genet. 1995. PMID: 8595433 No abstract available.

8

A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study.

Mioni F, Danieli GA, Cao A, Cau M, Colonna-Romano S, Covone AE, De Leonardis P, De Leo R, Esposito MG, Felicetti L, et al. Mioni F, et al. Among authors: covone ae. Gene Geogr. 1994 Apr;8(1):35-44. Gene Geogr. 1994. PMID: 7619774

9

Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection.

Puliti A, Covone AE, Bicocchi MP, Bolino A, Lerone M, Martucciello G, Jasonni V, Romeo G. Puliti A, et al. Among authors: covone ae. Cytogenet Cell Genet. 1993;63(2):102-6. doi: 10.1159/000133510. Cytogenet Cell Genet. 1993. PMID: 8467706

10

Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three-multiplex PCR.

Covone AE, Caroli F, Romeo G. Covone AE, et al. Am J Hum Genet. 1992 Sep;51(3):675-7. Am J Hum Genet. 1992. PMID: 1496997 Free PMC article. No abstract available.

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