Valiante M - Search Results

1

Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling.

Colombo EA, Valiante M, Uggeri M, Orro A, Majore S, Grammatico P, Gentilini D, Finelli P, Gervasini C, D'Ursi P, Larizza L. Colombo EA, et al. Among authors: valiante m. Int J Mol Sci. 2023 Feb 16;24(4):4028. doi: 10.3390/ijms24044028. Int J Mol Sci. 2023. PMID: 36835439 Free PMC article.

2

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.

De Simone P, Bottillo I, Valiante M, Iorio A, De Bernardo C, Majore S, D'Angelantonio D, Valentini T, Sperduti I, Piemonte P, Eibenschutz L, Ferrari A, Carbone A, Buccini P, Paiardini A, Silipo V, Frascione P, Grammatico P. De Simone P, et al. Among authors: valiante m. Int J Mol Sci. 2020 Dec 11;21(24):9432. doi: 10.3390/ijms21249432. Int J Mol Sci. 2020. PMID: 33322357 Free PMC article.

3

Bottillo I, Savino E, Majore S, Mulargia C, Valiante M, Ferraris A, Rossi V, Svegliati F, Ciccone MP, Brusco F, Grammatico B, Di Giacomo G, Bargiacchi S, D'Angelantonio D, Grammatico P. Bottillo I, et al. Among authors: valiante m. Eur J Hum Genet. 2023 Apr;31(4):474-478. doi: 10.1038/s41431-022-01270-z. Epub 2022 Dec 19. Eur J Hum Genet. 2023. PMID: 36529819 Free PMC article.

4

Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation.

Pascolini G, Valiante M, Majore S, Cariola F, Laino L, Calvani M, Grammatico P. Pascolini G, et al. Among authors: valiante m. Minerva Pediatr. 2018 Dec;70(6):639-642. doi: 10.23736/S0026-4946.18.05011-9. Epub 2018 Apr 12. Minerva Pediatr. 2018. PMID: 29651829 No abstract available.

5

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.

Majore S, Agolini E, Micale L, Pascolini G, Zuppi P, Cocciadiferro D, Morlino S, Mattiuzzo M, Valiante M, Castori M, Novelli A, Grammatico P. Majore S, et al. Among authors: valiante m. Clin Genet. 2021 Apr;99(4):540-546. doi: 10.1111/cge.13911. Epub 2021 Jan 13. Clin Genet. 2021. PMID: 33372278

6

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.

Pascolini G, Majore S, Valiante M, Bottillo I, Laino L, Agolini E, Novelli A, Grammatico B, Calvani M, Grammatico P. Pascolini G, et al. Among authors: valiante m. Psychiatr Genet. 2019 Jun;29(3):86-90. doi: 10.1097/YPG.0000000000000217. Psychiatr Genet. 2019. PMID: 30724859

7

Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.

Majore S, Bonaccorsi di Patti MC, Valiante M, Polticelli F, Cortese A, Di Bartolomeo S, De Bernardo C, De Muro M, Faienza F, Radio FC, Grammatico P, Musci G. Majore S, et al. Among authors: valiante m. Biochim Biophys Acta Mol Basis Dis. 2018 Feb;1864(2):464-470. doi: 10.1016/j.bbadis.2017.11.006. Epub 2017 Nov 14. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29154924 Free article.

8

Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

Castori M, Valiante M, Pascolini G, Leuzzi V, Pizzuti A, Grammatico P. Castori M, et al. Among authors: valiante m. Eur J Med Genet. 2013 Oct;56(10):570-6. doi: 10.1016/j.ejmg.2013.08.004. Epub 2013 Aug 27. Eur J Med Genet. 2013. PMID: 23994350 Review.

9

Radio FC, Majore S, Binni F, Valiante M, Ricerca BM, De Bernardo C, Morrone A, Grammatico P. Radio FC, et al. Among authors: valiante m. Blood Cells Mol Dis. 2014 Feb-Mar;52(2-3):83-7. doi: 10.1016/j.bcmd.2013.08.003. Epub 2013 Sep 20. Blood Cells Mol Dis. 2014. PMID: 24055163

10

Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance.

Castori M, Cascone P, Valiante M, Laino L, Iannetti G, Hennekam RC, Grammatico P. Castori M, et al. Among authors: valiante m. Am J Med Genet A. 2010 Nov;152A(11):2810-5. doi: 10.1002/ajmg.a.33634. Am J Med Genet A. 2010. PMID: 20949527

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