Iolascon A - Search Results

1

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: iolascon a. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061

2

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets.

Terracciano A, De Bernardi ML, Novizio R, De Brasi D, Iolascon A, Monica MD, Scavuzzo F, Serino D, Novelli A, Piscopo C. Terracciano A, et al. Among authors: iolascon a. Endocr Metab Immune Disord Drug Targets. 2023;23(9):1235-1239. doi: 10.2174/1871530323666230227142202. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 36847234 Free PMC article.

3

Hereditary Hemolytic Anemia Due to PIEZO1 Red Blood Cell Membrane Defect.

Dryllis G, Russo R, Andolfo I, Iolascon A, Rosato BE, Konstantopoulos K. Dryllis G, et al. Among authors: iolascon a. Hemoglobin. 2024 Sep;48(5):357-359. doi: 10.1080/03630269.2024.2427187. Epub 2024 Nov 26. Hemoglobin. 2024. PMID: 39593245

4

RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis.

Rosato BE, D'Onofrio V, Marra R, Nostroso A, Esposito FM, Iscaro A, Lasorsa VA, Capasso M, Iolascon A, Russo R, Andolfo I. Rosato BE, et al. Among authors: iolascon a. Am J Hematol. 2025 Jan;100(1):52-65. doi: 10.1002/ajh.27523. Epub 2024 Nov 18. Am J Hematol. 2025. PMID: 39558179 Free PMC article.

5

Relevance of the E756del common variant in the PIEZO1 gene for haemolytic anaemia and hepatic iron overload.

Esposito FM, D'Onofrio V, Rosato BE, Marra R, Nostroso A, Iscaro A, Manno M, Ribersani M, Giorgi V, Celia R, Piscopo C, Iolascon A, Russo R, Andolfo I. Esposito FM, et al. Among authors: iolascon a. Br J Haematol. 2024 Nov 6. doi: 10.1111/bjh.19886. Online ahead of print. Br J Haematol. 2024. PMID: 39506503 No abstract available.

6

Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation.

Cipriano L, Ferrigno R, Andolfo I, Russo R, Cioffi D, Savanelli MC, Pellino V, Klain A, Iolascon A, Piscopo C. Cipriano L, et al. Among authors: iolascon a. Int J Mol Sci. 2024 Oct 10;25(20):10913. doi: 10.3390/ijms252010913. Int J Mol Sci. 2024. PMID: 39456695 Free PMC article. Review.

7

A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity.

Cipriano L, Russo R, Andolfo I, Manno M, Piscopo R, Iolascon A, Piscopo C. Cipriano L, et al. Among authors: iolascon a. Genes (Basel). 2024 Sep 9;15(9):1184. doi: 10.3390/genes15091184. Genes (Basel). 2024. PMID: 39336775 Free PMC article.

8

Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation.

Tirelli M, Bonfiglio F, Cantalupo S, Montella A, Avitabile M, Maiorino T, Diskin SJ, Iolascon A, Capasso M. Tirelli M, et al. Among authors: iolascon a. Hum Genet. 2024 Nov;143(11):1293-1309. doi: 10.1007/s00439-024-02700-2. Epub 2024 Aug 27. Hum Genet. 2024. PMID: 39192051 Free PMC article.

9

Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia.

Iolascon A, Andolfo I, Russo R, Sanchez M, Busti F, Swinkels D, Aguilar Martinez P, Bou-Fakhredin R, Muckenthaler MU, Unal S, Porto G, Ganz T, Kattamis A, De Franceschi L, Cappellini MD, Munro MG, Taher A; from EHA‐SWG Red Cell and Iron. Iolascon A, et al. Hemasphere. 2024 Jul 15;8(7):e108. doi: 10.1002/hem3.108. eCollection 2024 Jul. Hemasphere. 2024. PMID: 39011129 Free PMC article.

10

Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect.

De Falco A, Gambale A, Pinelli M, Suero T, De Falco L, Iolascon A, Martone S. De Falco A, et al. Among authors: iolascon a. Cells. 2024 Jun 21;13(13):1078. doi: 10.3390/cells13131078. Cells. 2024. PMID: 38994932 Free PMC article.

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