Clementi M - Search Results

1

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants.

Morbidoni V, Baschiera E, Forzan M, Fumini V, Ali DS, Giorgi G, Buson L, Desbats MA, Cassina M, Clementi M, Salviati L, Trevisson E. Morbidoni V, et al. Among authors: clementi m. Cancers (Basel). 2021 Feb 27;13(5):999. doi: 10.3390/cancers13050999. Cancers (Basel). 2021. PMID: 33673681 Free PMC article.

2

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. Among authors: clementi m. Cancers (Basel). 2021 Dec 17;13(24):6336. doi: 10.3390/cancers13246336. Cancers (Basel). 2021. PMID: 34944956 Free PMC article.

3

A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.

Cassina M, Cerqua C, Rossi S, Salviati L, Martini A, Clementi M, Trevisson E. Cassina M, et al. Among authors: clementi m. Eur J Hum Genet. 2017 Feb;25(3):371-375. doi: 10.1038/ejhg.2016.176. Epub 2016 Dec 14. Eur J Hum Genet. 2017. PMID: 27966544 Free PMC article.

4

The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.

Trevisson E, Morbidoni V, Forzan M, Daolio C, Fumini V, Parrozzani R, Cassina M, Midena E, Salviati L, Clementi M. Trevisson E, et al. Among authors: clementi m. Mol Genet Genomic Med. 2019 May;7(5):e616. doi: 10.1002/mgg3.616. Epub 2019 Mar 6. Mol Genet Genomic Med. 2019. PMID: 30843352 Free PMC article.

5

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: clementi m. Cancers (Basel). 2019 Nov 14;11(11):1790. doi: 10.3390/cancers11111790. Cancers (Basel). 2019. PMID: 31739524 Free PMC article. Review.

6

Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism.

Trevisson E, Forzan M, Salviati L, Clementi M. Trevisson E, et al. Among authors: clementi m. Clin Genet. 2014 Apr;85(4):386-9. doi: 10.1111/cge.12177. Epub 2013 May 27. Clin Genet. 2014. PMID: 23621909

7

Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.

Giorgi G, Casarin A, Trevisson E, Donà M, Cassina M, Graziano C, Picci L, Clementi M, Salviati L. Giorgi G, et al. Among authors: clementi m. Clin Chem Lab Med. 2015 Oct;53(11):1719-23. doi: 10.1515/cclm-2014-1047. Clin Chem Lab Med. 2015. PMID: 25781545

8

Is there a link between COQ6 and schwannomatosis?

Trevisson E, Clementi M, Salviati L. Trevisson E, et al. Among authors: clementi m. Genet Med. 2015 Apr;17(4):312-3. doi: 10.1038/gim.2014.211. Genet Med. 2015. PMID: 25835193 Free article. No abstract available.

9

Is CFTR 621+3 A>G a cystic fibrosis causing mutation?

Forzan M, Salviati L, Pertegato V, Casarin A, Bruson A, Trevisson E, Di Gianantonio E, Clementi M. Forzan M, et al. Among authors: clementi m. J Hum Genet. 2010 Jan;55(1):23-6. doi: 10.1038/jhg.2009.115. Epub 2009 Nov 6. J Hum Genet. 2010. PMID: 19893581

10

X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple.

Casarin A, Rusalen F, Doimo M, Trevisson E, Carraro S, Clementi M, Tenconi R, Baraldi E, Salviati L. Casarin A, et al. Among authors: clementi m. Am J Med Genet A. 2009 Nov;149A(11):2464-8. doi: 10.1002/ajmg.a.33039. Am J Med Genet A. 2009. PMID: 19839041

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