Fogolari F - Search Results

1

Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi-Goutières Syndrome.

Garau J, Masnada S, Dragoni F, Sproviero D, Fogolari F, Gagliardi S, Izzo G, Varesio C, Orcesi S, Veggiotti P, Zuccotti GV, Pansarasa O, Tonduti D, Cereda C. Garau J, et al. Among authors: fogolari f. Front Immunol. 2021 Apr 26;12:672952. doi: 10.3389/fimmu.2021.672952. eCollection 2021. Front Immunol. 2021. PMID: 33981319 Free PMC article.

2

A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome.

Mio C, Passon N, Fogolari F, Cesario C, Novelli A, Pittini C, Damante G. Mio C, et al. Among authors: fogolari f. Mol Genet Genomic Med. 2021 Sep;9(9):e1612. doi: 10.1002/mgg3.1612. Epub 2021 Aug 3. Mol Genet Genomic Med. 2021. PMID: 34342180 Free PMC article.

3

Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Mio C, Fogolari F, Pezzoli L, D'Elia AV, Iascone M, Damante G. Mio C, et al. Among authors: fogolari f. Mol Genet Genomic Med. 2020 Jul;8(7):e1278. doi: 10.1002/mgg3.1278. Epub 2020 May 15. Mol Genet Genomic Med. 2020. PMID: 32412696 Free PMC article.

4

Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss.

Višnjar T, Maver A, Writzl K, Maloku O, Bergant G, Jaklič H, Neubauer D, Fogolari F, Pečarič Meglič N, Peterlin B. Višnjar T, et al. Among authors: fogolari f. Neurol Genet. 2022 May 3;8(3):e677. doi: 10.1212/NXG.0000000000000677. eCollection 2022 Jun. Neurol Genet. 2022. PMID: 35518571 Free PMC article.

5

Amplifying the spectrum of SPAST gene mutations.

Verriello L, Lonigro IR, Pessa ME, Betto E, Pauletto G, Fogolari F, Gigli GL, Curcio F. Verriello L, et al. Among authors: fogolari f. Acta Biomed. 2021 Nov 18;92(S1):e2021220. doi: 10.23750/abm.v92iS1.11608. Acta Biomed. 2021. PMID: 35132972 Free PMC article.

6

A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia.

Fabbro D, Mio C, Fogolari F, Damante G. Fabbro D, et al. Among authors: fogolari f. J Hum Genet. 2021 Dec;66(12):1177-1180. doi: 10.1038/s10038-021-00941-x. Epub 2021 Jun 9. J Hum Genet. 2021. PMID: 34108639

7

Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia.

Puppin C, Pellizzari L, Fabbro D, Fogolari F, Tell G, Tessa A, Santorelli FM, Damante G. Puppin C, et al. Among authors: fogolari f. J Hum Genet. 2005;50(12):679-83. doi: 10.1007/s10038-005-0311-3. Epub 2005 Oct 22. J Hum Genet. 2005. PMID: 16244783

8

Molecular analysis of a human PAX6 homeobox mutant.

D'Elia AV, Puppin C, Pellizzari L, Pianta A, Bregant E, Lonigro R, Tell G, Fogolari F, van Heyningen V, Damante G. D'Elia AV, et al. Among authors: fogolari f. Eur J Hum Genet. 2006 Jun;14(6):744-51. doi: 10.1038/sj.ejhg.5201579. Eur J Hum Genet. 2006. PMID: 16493447

9

Homology model building of the thyroid transcription factor 1 homeodomain.

Fogolari F, Esposito G, Viglino P, Damante G, Pastore A. Fogolari F, et al. Protein Eng. 1993 Jul;6(5):513-9. doi: 10.1093/protein/6.5.513. Protein Eng. 1993. PMID: 8105464

10

Helix mobility and recognition function of the rat thyroid transcription factor 1 homeodomain - hints from 15N-NMR relaxation studies.

Gümral D, Nadalin L, Corazza A, Fogolari F, Damante G, Viglino P, Esposito G. Gümral D, et al. Among authors: fogolari f. FEBS J. 2008 Feb;275(3):435-48. doi: 10.1111/j.1742-4658.2007.06208.x. Epub 2007 Dec 21. FEBS J. 2008. PMID: 18167145 Free article.

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