Capra AP - Search Results

1

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.

Moschella A, Capra AP, Corica D, Pepe G, Di Tommaso S, Sallicandro E, Wasniewska MG, Briuglia S, Aversa T. Moschella A, et al. Among authors: capra ap. BMC Med Genomics. 2023 Dec 4;16(1):315. doi: 10.1186/s12920-023-01716-3. BMC Med Genomics. 2023. PMID: 38049856 Free PMC article. Review.

2

FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family.

Ferro E, Capra AP, Zirilli G, Meduri A, Urso M, Briuglia S, La Rosa MA. Ferro E, et al. Among authors: capra ap. Pediatr Dev Pathol. 2018 Sep-Oct;21(5):456-460. doi: 10.1177/1093526618755200. Epub 2018 Feb 9. Pediatr Dev Pathol. 2018. PMID: 29426274

3

Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion.

Capra AP, Ferro E, La Rosa MA, Briuglia S, Russo T, Arena S, Salpietro Damiano C, Romeo C, Impellizzeri P. Capra AP, et al. Pediatr Surg Int. 2018 Jul;34(7):807-812. doi: 10.1007/s00383-018-4280-y. Epub 2018 May 21. Pediatr Surg Int. 2018. PMID: 29785651

4

Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al.

Capra AP, Agolini E, La Rosa MA, Novelli A, Briuglia S. Capra AP, et al. Genet Med. 2021 Feb;23(2):421-422. doi: 10.1038/s41436-020-00978-x. Epub 2020 Oct 5. Genet Med. 2021. PMID: 33012787 Free article. No abstract available.

5

Molecular Pathways within Autism Spectrum Disorder Endophenotypes.

Briuglia S, Calabrò M, Capra AP, Briguori S, La Rosa MA, Crisafulli C. Briuglia S, et al. Among authors: capra ap. J Mol Neurosci. 2021 Jul;71(7):1357-1367. doi: 10.1007/s12031-020-01782-7. Epub 2021 Jan 25. J Mol Neurosci. 2021. PMID: 33492615

6

CNVs inform the biological network of Autism spectrum disorder.

Briuglia S, Calabrò M, Capra AP, La Rosa MA, Crisafulli C. Briuglia S, et al. Among authors: capra ap. Psychiatry Res. 2021 Mar;297:113729. doi: 10.1016/j.psychres.2021.113729. Epub 2021 Jan 21. Psychiatry Res. 2021. PMID: 33524775

7

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.

Catusi I, Garzo M, Capra AP, Briuglia S, Baldo C, Canevini MP, Cantone R, Elia F, Forzano F, Galesi O, Grosso E, Malacarne M, Peron A, Romano C, Saccani M, Larizza L, Recalcati MP. Catusi I, et al. Among authors: capra ap. Genes (Basel). 2021 Apr 27;12(5):652. doi: 10.3390/genes12050652. Genes (Basel). 2021. PMID: 33925474 Free PMC article.

8

Autoimmune hepatitis in genetic syndromes: A literature review.

Capra AP, Chiara E, Briuglia S. Capra AP, et al. World J Hepatol. 2021 Oct 27;13(10):1328-1340. doi: 10.4254/wjh.v13.i10.1328. World J Hepatol. 2021. PMID: 34786169 Free PMC article. Review.

9

Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature.

Morabito LA, Allegri AEM, Capra AP, Capasso M, Capra V, Garaventa A, Maghnie M, Briuglia S, Wasniewska MG. Morabito LA, et al. Among authors: capra v, capra ap. Genes (Basel). 2022 Mar 25;13(4):581. doi: 10.3390/genes13040581. Genes (Basel). 2022. PMID: 35456387 Free PMC article. Review.

10

Neurofibromatosis: New Clinical Challenges in the Era of COVID-19.

Ardizzone A, Capra AP, Campolo M, Filippone A, Esposito E, Briuglia S. Ardizzone A, et al. Among authors: capra ap. Biomedicines. 2022 Apr 19;10(5):940. doi: 10.3390/biomedicines10050940. Biomedicines. 2022. PMID: 35625677 Free PMC article. Review.

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