Maria Antonietta Mencarelli
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Explore the profile of Maria Antonietta Mencarelli including associated specialties, affiliations and a list of published articles.
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69
Citations
1379
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Recent Articles
1.
Loberti L, Adamo L, Antolini E, Casamassima G, Destree A, Brunetti-Pierri N, et al.
Genet Med
. 2025 Feb;
:101375.
PMID: 39953909
Purpose: AUTS2-related syndrome is a condition characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters AUTS2 encodes two distinct long and short isoforms encoding a putative...
2.
Mazel B, Delanne J, Garde A, Racine C, Bruel A, Duffourd Y, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2024 Mar;
195(6):e32970.
PMID: 38459409
Since 2008, FOXG1 haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable to sit, walk, or speak. For years,...
3.
Denomme-Pichon A, Collins S, Bruel A, Mikhaleva A, Wagner C, Vancollie V, et al.
Genet Med
. 2023 Mar;
25(7):100835.
PMID: 36999555
Purpose: Miller-Dieker syndrome is caused by a multiple gene deletion, including PAFAH1B1 and YWHAE. Although deletion of PAFAH1B1 causes lissencephaly unambiguously, deletion of YWHAE alone has not clearly been linked...
4.
Doddato G, Fabbiani A, Fallerini C, Bruttini M, Hadjistilianou T, Landi M, et al.
Front Genet
. 2023 Feb;
14:1143795.
PMID: 36761000
[This corrects the article DOI: 10.3389/fgene.2021.761264.].
5.
Denomme-Pichon A, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, et al.
Genet Med
. 2023 Jan;
25(4):100018.
PMID: 36681873
Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based...
6.
Daga S, Donati F, Capitani K, Croci S, Tita R, Giliberti A, et al.
Eur J Hum Genet
. 2023 Jan;
32(1):131.
PMID: 36653516
No abstract available.
7.
Bruno L, Doddato G, Baldassarri M, Lo Rizzo C, Resciniti S, Bruttini M, et al.
Am J Med Genet A
. 2022 Oct;
191(1):284-288.
PMID: 36210549
No abstract available.
8.
Gaggiano C, Vitale A, Tufan A, Ragab G, Aragona E, Wiesik-Szewczyk E, et al.
Front Med (Lausanne)
. 2022 Sep;
9:980679.
PMID: 36160138
Objective: The present manuscript aims to describe an international, electronic-based, user-friendly and interoperable patient registry for monogenic autoinflammatory diseases (mAIDs), developed in the contest of the Autoinflammatory Diseases Alliance (AIDA)...
9.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe J, et al.
Brain
. 2022 Aug;
146(2):534-548.
PMID: 35979925
We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1; MIM*601178). CAPRIN1 encodes a ubiquitous protein that regulates the transport and translation...
10.
Loberti L, Bruno L, Granata S, Doddato G, Resciniti S, Fava F, et al.
Hum Mol Genet
. 2022 Jul;
31(24):4131-4142.
PMID: 35861666
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better...