Mina Grippa
Overview
Explore the profile of Mina Grippa including associated specialties, affiliations and a list of published articles.
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6
Citations
23
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0
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Recent Articles
1.
Seaby E, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, et al.
Brain
. 2024 Oct;
PMID: 39405200
DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we compiled a case-series of 11 patients with neurodevelopmental phenotypes...
2.
Pettenuzzo I, Carli S, Sanchez-Cuesta A, Isidori F, Montanari F, Grippa M, et al.
Eur J Hum Genet
. 2024 May;
32(8):938-946.
PMID: 38702428
COQ7 pathogenetic variants cause primary CoQ deficiency and a clinical phenotype of encephalopathy, peripheral neuropathy, or multisystemic disorder. Early diagnosis is essential for promptly starting CoQ supplementation. Here, we report...
3.
Grippa M, Graziano C
Genes (Basel)
. 2024 Feb;
15(2).
PMID: 38397148
SOX proteins are transcription factors which play a role in regulating the development of progenitor cells and tissue differentiation. Twenty members are known, clustered in eight groups named A through...
4.
Barbero G, Zuntini R, Magini P, Desiderio L, Bonaguro M, Perrone A, et al.
Cancers (Basel)
. 2023 Mar;
15(5).
PMID: 36900320
BRCA testing is recommended in all Ovarian Cancer (OC) patients, but the optimal approach is debated. The landscape of alterations was explored in 30 consecutive OC patients: 6 (20.0%) carried...
5.
Angelozzi M, Karvande A, Molin A, Ritter A, Leonard J, Savatt J, et al.
J Med Genet
. 2022 Mar;
59(11):1058-1068.
PMID: 35232796
Background: A neurodevelopmental syndrome was recently reported in four patients with heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge...
6.
Zuntini R, Ferrari S, Bonora E, Buscherini F, Bertonazzi B, Grippa M, et al.
Front Genet
. 2018 Sep;
9:378.
PMID: 30254663
Detection of variants of uncertain significance (VUSs) in BRCA1 and BRCA2 genes poses relevant challenges for counseling and managing patients. VUS carriers should be managed similarly to probands with no...