Errichiello E - Search Results

1

De novo unbalanced translocations have a complex history/aetiology.

Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. Bonaglia MC, et al. Among authors: errichiello e. Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1. Hum Genet. 2018. PMID: 30276538 Clinical Trial.

2

Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.

Errichiello E, Novara F, Cremante A, Verri A, Galli J, Fazzi E, Bellotti D, Losa L, Cisternino M, Zuffardi O. Errichiello E, et al. Mol Cytogenet. 2016 Feb 24;9(1):21. doi: 10.1186/s13039-016-0230-3. eCollection 2016. Mol Cytogenet. 2016. PMID: 27625702 Free PMC article.

3

SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

Errichiello E, Mustafa N, Vetro A, Notarangelo LD, de Jonge H, Rinaldi B, Vergani D, Giglio SR, Morbini P, Zuffardi O. Errichiello E, et al. J Pathol. 2017 Sep;243(1):9-15. doi: 10.1002/path.4926. Epub 2017 Jul 25. J Pathol. 2017. PMID: 28608987 Free PMC article.

4

A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.

Cattaneo M, La Sala L, Rondinelli M, Errichiello E, Zuffardi O, Puca AA, Genovese S, Ceriello A. Cattaneo M, et al. Among authors: errichiello e. BMC Med Genet. 2017 Dec 13;18(1):147. doi: 10.1186/s12881-017-0508-2. BMC Med Genet. 2017. PMID: 29237418 Free PMC article.

5

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.

Errichiello E, Gorgone C, Giuliano L, Iadarola B, Cosentino E, Rossato M, Kurtas NE, Delledonne M, Mattina T, Zuffardi O. Errichiello E, et al. Eur J Med Genet. 2018 Jun;61(6):335-340. doi: 10.1016/j.ejmg.2018.01.011. Epub 2018 Jan 31. Eur J Med Genet. 2018. PMID: 29371155 Free article.

6

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).

Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC. Kurtas N, et al. Among authors: errichiello e. J Med Genet. 2018 Apr;55(4):269-277. doi: 10.1136/jmedgenet-2017-105125. Epub 2018 Jan 29. J Med Genet. 2018. PMID: 29378768 Free PMC article.

7

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O. Kurtas NE, et al. Among authors: errichiello e. Hum Mutat. 2019 Feb;40(2):193-200. doi: 10.1002/humu.23683. Epub 2018 Nov 22. Hum Mutat. 2019. PMID: 30412329 Free article.

8

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

Kurtas NE, Xumerle L, Giussani U, Pansa A, Cardarelli L, Bertini V, Valetto A, Liehr T, Clara Bonaglia M, Errichiello E, Delledonne M, Zuffardi O. Kurtas NE, et al. Among authors: errichiello e. Mol Genet Genomic Med. 2019 Feb;7(2):e00496. doi: 10.1002/mgg3.496. Epub 2018 Dec 18. Mol Genet Genomic Med. 2019. PMID: 30565424 Free PMC article.

9

Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Errichiello E, Zagnoli-Vieira G, Rizzi R, Garavelli L, Caldecott KW, Zuffardi O. Errichiello E, et al. J Hum Genet. 2020 Dec;65(12):1135-1141. doi: 10.1038/s10038-020-0800-4. Epub 2020 Jul 10. J Hum Genet. 2020. PMID: 32651480

10

Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant.

Bossi G, Errichiello E, Zuffardi O, Marone P, Monzillo V, Barbarini D, Vergori A, Bassi LA, Rispoli GA, De Amici M, Zecca M. Bossi G, et al. Among authors: errichiello e. J Pediatr Genet. 2020 Sep;9(3):186-192. doi: 10.1055/s-0039-1700803. Epub 2019 Nov 4. J Pediatr Genet. 2020. PMID: 32714620 Free PMC article.

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