Zuffardi O - Search Results

1

SCN2A and arrhythmia: A potential correlation? A case report and literature review.

Tzialla C, Arossa A, Mannarino S, Orcesi S, Veggiotti P, Fiandrino G, Zuffardi O, Errichiello E. Tzialla C, et al. Among authors: zuffardi o. Eur J Med Genet. 2022 Dec;65(12):104639. doi: 10.1016/j.ejmg.2022.104639. Epub 2022 Oct 4. Eur J Med Genet. 2022. PMID: 36206969 Review.

2

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. Among authors: zuffardi o. 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.

3

An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.

Errichiello E, Arossa A, Iasci A, Villa R, Ischia B, Pavesi MA, Rizzuti T, Bedeschi MF, Zuffardi O. Errichiello E, et al. Among authors: zuffardi o. Clin Genet. 2020 Dec;98(6):628-629. doi: 10.1111/cge.13854. Epub 2020 Oct 14. Clin Genet. 2020. PMID: 33058178 No abstract available.

4

Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome.

Errichiello E, Malara A, Grimod G, Avolio L, Balduini A, Zuffardi O. Errichiello E, et al. Among authors: zuffardi o. Eur J Med Genet. 2021 Jan;64(1):104099. doi: 10.1016/j.ejmg.2020.104099. Epub 2020 Nov 12. Eur J Med Genet. 2021. PMID: 33189937

5

Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene.

Bayindir B, Piazza E, Della Mina E, Limongelli I, Brustia F, Ciccone R, Veggiotti P, Zuffardi O, Dehghani MR. Bayindir B, et al. Among authors: zuffardi o. Eur J Med Genet. 2013 Oct;56(10):551-5. doi: 10.1016/j.ejmg.2013.08.003. Epub 2013 Aug 31. Eur J Med Genet. 2013. PMID: 23999105

6

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

Della Mina E, Ciccone R, Brustia F, Bayindir B, Limongelli I, Vetro A, Iascone M, Pezzoli L, Bellazzi R, Perotti G, De Giorgis V, Lunghi S, Coppola G, Orcesi S, Merli P, Savasta S, Veggiotti P, Zuffardi O. Della Mina E, et al. Among authors: zuffardi o. Eur J Hum Genet. 2015 Mar;23(3):354-62. doi: 10.1038/ejhg.2014.92. Epub 2014 May 21. Eur J Hum Genet. 2015. PMID: 24848745 Free PMC article.

7

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. Among authors: zuffardi o. 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

8

FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome.

Errichiello E, Mina T, Morbini P, Zecca M, Zuffardi O. Errichiello E, et al. Among authors: zuffardi o. Cancer Genet. 2021 Aug;256-257:179-183. doi: 10.1016/j.cancergen.2020.10.003. Epub 2020 Oct 31. Cancer Genet. 2021. PMID: 33183999

9

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: zuffardi o. 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.

10

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

Decio A, Tonduti D, Pichiecchio A, Vetro A, Ciccone R, Limongelli I, Giorda R, Caffi L, Balottin U, Zuffardi O, Orcesi S. Decio A, et al. Among authors: zuffardi o. Am J Med Genet A. 2015 Apr;167A(4):810-5. doi: 10.1002/ajmg.a.36907. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25706114

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