Sorrentino U - Search Results

1

Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations.

Cassina M, Frizziero L, Opocher E, Parrozzani R, Sorrentino U, Viscardi E, Miglionico G, Midena E, Clementi M, Trevisson E. Cassina M, et al. Among authors: sorrentino u. Cancers (Basel). 2019 Nov 14;11(11):1790. doi: 10.3390/cancers11111790. Cancers (Basel). 2019. PMID: 31739524 Free PMC article. Review.

2

PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene.

Persico T, Tranquillo ML, Seracchioli R, Zuccarello D, Sorrentino U. Persico T, et al. Among authors: sorrentino u. Genes (Basel). 2023 Dec 19;15(1):6. doi: 10.3390/genes15010006. Genes (Basel). 2023. PMID: 38275588 Free PMC article. Review.

3

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.

Sorrentino U, Piccolo C, Rigon C, Brasson V, Trevisson E, Boaretto F, Martini A, Cassina M. Sorrentino U, et al. Audiol Res. 2021 Oct 18;11(4):582-593. doi: 10.3390/audiolres11040052. Audiol Res. 2021. PMID: 34698053 Free PMC article.

4

Genetics & Epigenetics of Hereditary Deafness: An Historical Overview.

Martini A, Sorrentino F, Sorrentino U, Cassina M. Martini A, et al. Among authors: sorrentino u, sorrentino f. Audiol Res. 2021 Nov 17;11(4):629-635. doi: 10.3390/audiolres11040057. Audiol Res. 2021. PMID: 34842610 Free PMC article.

5

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.

Sorrentino U, Bellonzi S, Mozzato C, Brasson V, Toldo I, Parrozzani R, Clementi M, Cassina M, Trevisson E. Sorrentino U, et al. Cancers (Basel). 2021 Dec 17;13(24):6336. doi: 10.3390/cancers13246336. Cancers (Basel). 2021. PMID: 34944956 Free PMC article.

6

Epigenetics of pregnancy: looking beyond the DNA code.

Zuccarello D, Sorrentino U, Brasson V, Marin L, Piccolo C, Capalbo A, Andrisani A, Cassina M. Zuccarello D, et al. Among authors: sorrentino u. J Assist Reprod Genet. 2022 Apr;39(4):801-816. doi: 10.1007/s10815-022-02451-x. Epub 2022 Mar 17. J Assist Reprod Genet. 2022. PMID: 35301622 Free PMC article. Review.

7

Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature.

Sorrentino U, Gabbiato I, Canciani C, Calosci D, Rigon C, Zuccarello D, Cassina M. Sorrentino U, et al. Genes (Basel). 2023 Mar 19;14(3):748. doi: 10.3390/genes14030748. Genes (Basel). 2023. PMID: 36981019 Free PMC article. Review.

8

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.

Sorrentino U, Agosto C, Benini F, Bertolin C, Cassina M, Bonadies L, Caroppo F, Fortina AB, Salviati L. Sorrentino U, et al. Clin Genet. 2023 Nov;104(5):604-606. doi: 10.1111/cge.14396. Epub 2023 Jun 25. Clin Genet. 2023. PMID: 37356817

9

A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.

Calderan C, Sorrentino U, Persano L, Trevisson E, Sartori G, Salviati L, Desbats MA. Calderan C, et al. Among authors: sorrentino u. Eur J Hum Genet. 2024 Jul;32(7):804-812. doi: 10.1038/s41431-024-01591-1. Epub 2024 Mar 15. Eur J Hum Genet. 2024. PMID: 38486025

10

The impact of a second embryo biopsy for preimplantation genetic testing for monogenic diseases (PGT-M) with inconclusive results on pregnancy potential: results from a matched case-control study.

Guarneri C, Reschini M, Pinna M, Perego L, Sanzani E, Somigliana E, Sorrentino U, Cassina M, Zuccarello D, Ciaffaglione M. Guarneri C, et al. Among authors: sorrentino u. J Assist Reprod Genet. 2024 May;41(5):1173-1179. doi: 10.1007/s10815-024-03078-w. Epub 2024 Apr 1. J Assist Reprod Genet. 2024. PMID: 38557804

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