A

AMICO G.

Last name: AMICO G.

2020 (v1)

Publication

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Prenatal Diagnosis of an Uncommon 48,XX,+18+21 Karyotype in a Fetus With Malformations Typical of Both Trisomies

Fiorio P. Donarini G. Fulcheri E.

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Uploaded on: April 14, 2023
2021 (v1)

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An atypical case of post-varicella stroke in a child presenting with hemichorea followed by late-onset inflammatory focal cerebral arteriopathy

Bertamino M. Signa S. Vagelli G.

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Uploaded on: February 11, 2024
2017 (v1)

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Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization

Lasiglie D. Mensa-Vilaro A. Ferrera D.

Objective: To evaluate the rate of somatic NLRP3 mosaicism in an Italian cohort of mutation-negative patients with cryopyrin-associated periodic syndrome (CAPS). Methods: The study enrolled 14 patients with a clinical phenotype consistent with CAPS in whom Sanger sequencing of the NLRP3 gene yielded negative results. Patients' DNA were...

Uploaded on: October 11, 2023