Iolascon A - Search Results

1

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O. Novara F, et al. Among authors: iolascon a. Eur J Hum Genet. 2017 Jun;25(6):694-701. doi: 10.1038/ejhg.2017.49. Epub 2017 Apr 19. Eur J Hum Genet. 2017. PMID: 28422132 Free PMC article.

2

Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.

Cusano R, Gangarossa S, Forabosco P, Caridi G, Ghiggeri GM, Russo G, Iolascon A, Ravazzolo R, Seri M. Cusano R, et al. Among authors: iolascon a. Eur J Hum Genet. 2000 Nov;8(11):895-9. doi: 10.1038/sj.ejhg.5200533. Eur J Hum Genet. 2000. PMID: 11093280

3

A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.

Carella M, d'Adamo AP, Grootenboer-Mignot S, Vantyghem MC, Esposito L, D'Eustacchio A, Ficarella R, Stewart GW, Gasparini P, Delaunay J, Iolascon A. Carella M, et al. Among authors: iolascon a. Eur J Hum Genet. 2004 Dec;12(12):1073-6. doi: 10.1038/sj.ejhg.5201280. Eur J Hum Genet. 2004. PMID: 15470366

4

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells.

Andolfo I, De Rosa G, Errichiello E, Manna F, Rosato BE, Gambale A, Vetro A, Calcaterra V, Pelizzo G, De Franceschi L, Zuffardi O, Russo R, Iolascon A. Andolfo I, et al. Among authors: iolascon a. Front Physiol. 2019 Mar 15;10:258. doi: 10.3389/fphys.2019.00258. eCollection 2019. Front Physiol. 2019. PMID: 30930797 Free PMC article.

5

Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition.

Gambale A, Russo R, Andolfo I, Quaglietta L, De Rosa G, Contestabile V, De Martino L, Genesio R, Pignataro P, Giglio S, Capasso M, Parasole R, Pasini B, Iolascon A. Gambale A, et al. Among authors: iolascon a. Clin Genet. 2019 Oct;96(4):359-365. doi: 10.1111/cge.13600. Epub 2019 Jul 15. Clin Genet. 2019. PMID: 31278746

6

Genetic counseling during COVID-19 pandemic: Tuscany experience.

Pagliazzi A, Mancano G, Forzano G, di Giovanni F, Gori G, Traficante G, Iolascon A, Giglio S. Pagliazzi A, et al. Among authors: iolascon a. Mol Genet Genomic Med. 2020 Oct;8(10):e1433. doi: 10.1002/mgg3.1433. Epub 2020 Aug 3. Mol Genet Genomic Med. 2020. PMID: 32743952 Free PMC article.

7

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism.

Errichiello E, Giorda R, Gambale A, Iolascon A, Zuffardi O, Giglio S. Errichiello E, et al. Among authors: iolascon a. Mol Genet Genomic Med. 2021 Jan;9(1):e1561. doi: 10.1002/mgg3.1561. Epub 2020 Dec 19. Mol Genet Genomic Med. 2021. PMID: 33340270 Free PMC article.

8

New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients.

De Falco A, Iolascon A, Ascione F, Piscopo C. De Falco A, et al. Among authors: iolascon a. Genes (Basel). 2023 May 21;14(5):1116. doi: 10.3390/genes14051116. Genes (Basel). 2023. PMID: 37239476 Free PMC article.

9

Alpha I/65 hereditary elliptocytosis in southern Italy: evidence for an African origin.

del Giudice EM, Ducluzeau MT, Alloisio N, Wilmotte R, Delaunay J, Perrotta S, Cutillo S, Iolascon A. del Giudice EM, et al. Among authors: iolascon a. Hum Genet. 1992 Jul;89(5):553-6. doi: 10.1007/BF00219183. Hum Genet. 1992. PMID: 1353056

10

MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness.

Capasso M, Ayala F, Avvisati RA, Russo R, Gambale A, Mozzillo N, Ascierto PA, Iolascon A. Capasso M, et al. Among authors: iolascon a. J Hum Genet. 2010 Aug;55(8):518-24. doi: 10.1038/jhg.2010.62. Epub 2010 Jun 10. J Hum Genet. 2010. PMID: 20535124

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