Uliana V - Search Results

1

A patient with mosaic USP9X gene variant.

Barili V, Dall'Asta A, Uliana V, Schera GBL, Ormitti F, Romanini E, Micalizzi A, Magliozzi M, Perrino D, Novelli A, Ghi T, Percesepe A. Barili V, et al. Among authors: uliana v. Eur J Med Genet. 2022 Dec;65(12):104638. doi: 10.1016/j.ejmg.2022.104638. Epub 2022 Oct 8. Eur J Med Genet. 2022. PMID: 36216272

2

A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb.

Pollazzon M, Grosso S, Papa FT, Katzaki E, Marozza A, Mencarelli MA, Uliana V, Balestri P, Mari F, Renieri A. Pollazzon M, et al. Among authors: uliana v. Eur J Med Genet. 2009 Mar-Jun;52(2-3):131-3. doi: 10.1016/j.ejmg.2009.03.009. Epub 2009 Mar 24. Eur J Med Genet. 2009. PMID: 19324102

3

3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.

Uliana V, Grosso S, Cioni M, Ariani F, Papa FT, Tamburello S, Rossi E, Katzaki E, Mucciolo M, Marozza A, Pollazzon M, Mencarelli MA, Mari F, Balestri P, Renieri A. Uliana V, et al. Eur J Med Genet. 2010 May-Jun;53(3):168-70. doi: 10.1016/j.ejmg.2010.02.003. Epub 2010 Feb 26. Eur J Med Genet. 2010. PMID: 20219702

4

Reverse phenotyping comes of age.

Uliana V, Percesepe A. Uliana V, et al. Mol Genet Metab. 2016 Aug;118(4):230-1. doi: 10.1016/j.ymgme.2016.05.010. Epub 2016 May 14. Mol Genet Metab. 2016. PMID: 27211610 No abstract available.

5

Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene.

Uliana V, Bonatti F, Zanatta V, Mozzoni P, Martorana D, Percesepe A. Uliana V, et al. J Genet. 2019 Mar;98:10. J Genet. 2019. PMID: 30945684 Free article.

6

Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study.

Uliana V, Sebastio P, Riva M, Carli D, Ruberto C, Bianchi L, Graziano C, Capelli I, Faletra F, Pillon R, Mattina T, Sensi A, Bonatti F, Percesepe A. Uliana V, et al. Mol Genet Genomic Med. 2021 Feb;9(2):e1576. doi: 10.1002/mgg3.1576. Epub 2020 Dec 24. Mol Genet Genomic Med. 2021. PMID: 33369211 Free PMC article.

7

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.

Riva M, Martorana D, Uliana V, Caleffi E, Boschi E, Garavelli L, Ponti G, Sangiorgi L, Graziano C, Bigoni S, Rocchetti LM, Madeo S, Soli F, Grosso E, Carli D, Goldoni M, Pisani F, Percesepe A. Riva M, et al. Among authors: uliana v. Genes Chromosomes Cancer. 2022 Jan;61(1):10-21. doi: 10.1002/gcc.22997. Epub 2021 Sep 3. Genes Chromosomes Cancer. 2022. PMID: 34427956 Free PMC article.

8

Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant.

Serra W, Vitetta G, Uliana V, Barocelli F, Barili V, Allegri I, Ardissino D, Gualandi F, Percesepe A. Serra W, et al. Among authors: uliana v. Heliyon. 2022 Dec 16;8(12):e12373. doi: 10.1016/j.heliyon.2022.e12373. eCollection 2022 Dec. Heliyon. 2022. PMID: 36593836 Free PMC article.

9

Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.

Barili V, Ambrosini E, Uliana V, Bellini M, Vitetta G, Martorana D, Cannizzaro IR, Taiani A, De Sensi E, Caggiati P, Hilton S, Banka S, Percesepe A. Barili V, et al. Among authors: uliana v. Genes (Basel). 2023 Jun 10;14(6):1241. doi: 10.3390/genes14061241. Genes (Basel). 2023. PMID: 37372421 Free PMC article.

10

Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.

Martorana D, Barili V, Uliana V, Ambrosini E, Riva M, De Sensi E, Luppi E, Messina C, Caleffi E, Pisani F, Percesepe A. Martorana D, et al. Among authors: uliana v. Eur J Med Genet. 2023 Nov;66(11):104847. doi: 10.1016/j.ejmg.2023.104847. Epub 2023 Sep 24. Eur J Med Genet. 2023. PMID: 37751797 Free article.

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