Barresi S - Search Results

1

DICER1-associated malignancies mimicking germ cell neoplasms: Report of two cases and review of the literature.

Rossi S, Barresi S, Stracuzzi A, Lopez-Nunez O, Chiaravalli S, Ferrari A, Ciolfi A, Maria Milano G, Giovannoni I, Tartaglia M, Miele E, Alaggio R. Rossi S, et al. Among authors: barresi s. Pathol Res Pract. 2021 Sep;225:153553. doi: 10.1016/j.prp.2021.153553. Epub 2021 Jul 16. Pathol Res Pract. 2021. PMID: 34329835 Review.

2

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Barresi S, Niceta M, Alfieri P, Brankovic V, Piccini G, Bruselles A, Barone MR, Cusmai R, Tartaglia M, Bertini E, Zanni G. Barresi S, et al. Clin Genet. 2017 Jan;91(1):86-91. doi: 10.1111/cge.12783. Epub 2016 May 11. Clin Genet. 2017. PMID: 27062503

3

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E. Sferra A, et al. Among authors: barresi s. Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666369 Free PMC article.

4

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

Dentici ML, Barresi S, Niceta M, Pantaleoni F, Pizzi S, Dallapiccola B, Tartaglia M, Digilio MC. Dentici ML, et al. Among authors: barresi s. Clin Genet. 2018 Feb;93(2):401-407. doi: 10.1111/cge.13029. Epub 2017 Apr 25. Clin Genet. 2018. PMID: 28374925

5

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.

Zanni G, Nardella M, Barresi S, Bellacchio E, Niceta M, Ciolfi A, Pro S, D'Arrigo S, Tartaglia M, Bertini E. Zanni G, et al. Among authors: barresi s. Brain. 2017 Jun 1;140(6):e34. doi: 10.1093/brain/awx083. Brain. 2017. PMID: 28402445 No abstract available.

6

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

Dentici ML, Niceta M, Pantaleoni F, Barresi S, Bencivenga P, Dallapiccola B, Digilio MC, Tartaglia M. Dentici ML, et al. Among authors: barresi s. Am J Med Genet A. 2017 Jul;173(7):1965-1969. doi: 10.1002/ajmg.a.38255. Epub 2017 May 7. Am J Med Genet A. 2017. PMID: 28480548

7

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, Pantaleoni F, Danieli A, Iarossi G, Cappa M, Bertini E, Tartaglia M, Zanni G. Dentici ML, et al. Among authors: barresi s. Gene. 2017 Sep 10;628:141-145. doi: 10.1016/j.gene.2017.07.017. Epub 2017 Jul 8. Gene. 2017. PMID: 28698159 Free PMC article.

8

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.

Macchiaiolo M, Barresi S, Cecconi F, Zanni G, Niceta M, Bellacchio E, Lazzarino G, Amorini AM, Bertini ES, Rizza S, Contardi B, Tartaglia M, Bartuli A. Macchiaiolo M, et al. Among authors: barresi s. Ital J Pediatr. 2017 Aug 2;43(1):65. doi: 10.1186/s13052-017-0383-7. Ital J Pediatr. 2017. PMID: 28768552 Free PMC article.

9

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E. Sferra A, et al. Among authors: barresi s. Hum Mol Genet. 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096. Hum Mol Genet. 2018. PMID: 29547997

10

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Travaglini L, Aiello C, Stregapede F, D'Amico A, Alesi V, Ciolfi A, Bruselles A, Catteruccia M, Pizzi S, Zanni G, Loddo S, Barresi S, Vasco G, Tartaglia M, Bertini E, Nicita F. Travaglini L, et al. Among authors: barresi s. Neurogenetics. 2018 May;19(2):111-121. doi: 10.1007/s10048-018-0545-9. Epub 2018 Apr 24. Neurogenetics. 2018. PMID: 29691679

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