Azzarà A - Search Results

1

Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study.

Azzarà A, Risi Ambrogioni L, Cassano I, Lintas C, Longo UG, Denaro V, Gurrieri F. Azzarà A, et al. Biology (Basel). 2022 Oct 25;11(11):1565. doi: 10.3390/biology11111565. Biology (Basel). 2022. PMID: 36358266 Free PMC article.

2

Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.

Sangiorgi E, Azzarà A, Molinario C, Pietrobono R, Rigante D, Verrecchia E, Sicignano LL, Genuardi M, Gurrieri F, Manna R. Sangiorgi E, et al. Among authors: azzara a. Eur J Hum Genet. 2019 Sep;27(9):1361-1368. doi: 10.1038/s41431-019-0421-6. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053777 Free PMC article. Review.

3

Identification of new candidate genes for spina bifida through exome sequencing.

Azzarà A, Rendeli C, Crivello AM, Brugnoletti F, Rumore R, Ausili E, Sangiorgi E, Gurrieri F. Azzarà A, et al. Childs Nerv Syst. 2021 Aug;37(8):2589-2596. doi: 10.1007/s00381-021-05153-4. Epub 2021 Apr 15. Childs Nerv Syst. 2021. PMID: 33855610

4

Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis.

D'Ambrosio V, Azzarà A, Sangiorgi E, Gurrieri F, Hess B, Gambaro G, Ferraro PM. D'Ambrosio V, et al. Among authors: azzara a. Kidney Blood Press Res. 2021;46(4):469-474. doi: 10.1159/000516389. Epub 2021 Jun 9. Kidney Blood Press Res. 2021. PMID: 34107482 Free article.

5

Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.

Lintas C, Sacco R, Azzarà A, Cassano I, Gurrieri F. Lintas C, et al. Among authors: azzara a. J Clin Med. 2021 Oct 29;10(21):5060. doi: 10.3390/jcm10215060. J Clin Med. 2021. PMID: 34768579 Free PMC article. Review.

6

Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.

Azzarà A, Cassano I, Paccagnella E, Tirindelli MC, Nobile C, Schittone V, Lintas C, Sacco R, Gurrieri F. Azzarà A, et al. PLoS One. 2022 Oct 13;17(10):e0275988. doi: 10.1371/journal.pone.0275988. eCollection 2022. PLoS One. 2022. PMID: 36228008 Free PMC article.

7

Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders.

Lintas C, Sacco R, Azzarà A, Cassano I, Laino L, Grammatico P, Gurrieri F. Lintas C, et al. Among authors: azzara a. Genes (Basel). 2022 Sep 20;13(10):1685. doi: 10.3390/genes13101685. Genes (Basel). 2022. PMID: 36292569 Free PMC article.

8

Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19.

Azzarà A, Cassano I, Tirindelli MC, Nobile C, Schittone V, Paccagnella E, Lintas C, Gurrieri F. Azzarà A, et al. Gene Rep. 2022 Dec;29:101705. doi: 10.1016/j.genrep.2022.101705. Epub 2022 Nov 4. Gene Rep. 2022. PMID: 36348959 Free PMC article.

9

Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations.

Lintas C, Bottillo I, Sacco R, Azzarà A, Cassano I, Ciccone MP, Grammatico P, Gurrieri F. Lintas C, et al. Among authors: azzara a. Genes (Basel). 2022 Dec 1;13(12):2266. doi: 10.3390/genes13122266. Genes (Basel). 2022. PMID: 36553533 Free PMC article.

10

RADX Gene Variant May Predispose to Familial Asperger Syndrome.

Azzarà A, Rumore R, Brugnoletti F, Tabolacci E, Bottillo I, Sangiorgi E, Gurrieri F. Azzarà A, et al. Genes (Basel). 2023 Jan 23;14(2):301. doi: 10.3390/genes14020301. Genes (Basel). 2023. PMID: 36833228 Free PMC article.

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