RE-BVS – Piemonte Repository

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ZONTA A
Collezione AOU Città della Salute di Torino

Items : 11

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility. in Human genetics / Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20.

2023
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Fusco C; Petracca A; Selicorni A; Majore S; Di Giosaffatte N; Lodato V; Ferraris A; Savasta S; Iolascon A; Trabatti C; Mammi C; Foiadelli T; Priolo M; De Maggio I; Piscopo C; Pasini B; Zonta A; Grosso E; Cantone R; Zollino M; Lastella P; Busè M; Salzano E; Piccione M; Baldo D; Turolla L; Celli L; Giachino D; Pracella R; et alii...

Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM). in Antioxidants (Basel, Switzerland) / Antioxidants (Basel). 2022 Jun 29;11(7):1294. doi: 10.3390/antiox11071294.

2022
AOU Città della Salute di Torino

Benedetti V; Canzoneri R; Perrelli A; Arduino C; Zonta A; Brusco A; Retta SF;

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders. in Frontiers in genetics / Front Genet. 2022 Aug 11;13:875182. doi: 10.3389/fgene.2022.875182. eCollection 2022.

2022
AOU Alessandria
AOU Città della Salute di Torino
ASL Vercelli

Viri M; Dianzani U; Rabbone I; Vercellino F; Zonta A; Rasmini P; Pelle A; Mandrile G; Sirchia F; Spano A; Peruzzi C; Papa A; Maruzzi A; Favini S; Ronzani S; Vurchio D; Puricelli C; Mellone S; Giordano M;

Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT): Report of two cases. in Clinical case reports / Clin Case Rep. 2021 Jan 13;9(3):1066-1071. doi: 10.1002/ccr3.3593. eCollection 2021 Mar.

2021
AO Cuneo
ASL Cuneo 1
AOU Città della Salute di Torino

Massaia M; Bonferroni M; Grasso M; Rapezzi D; Zonta A; Priotto R; Mattei D; Mordini N; Foglietta M; Masturzo B; Celeghini I; Signorile AF; Giacchello R; Grosso E; Sorasio R; Castellino A; Castellino C; Elba S;

KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity. in International journal of molecular sciences / Int J Mol Sci. 2021 Jun 4;22(11):6064. doi: 10.3390/ijms22116064.

2021
AOU Città della Salute di Torino

Pavinato L; Nematian-Ardestani E; Zonta A; De Rubeis S; Buxbaum J; Mancini C; Bruselles A; Tartaglia M; Pessia M; Tucker SJ; D'Adamo MC; Brusco A;

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2021 Jun;23(6):1116-1124. doi: 10.1038/s41436-020-01093-7. Epub 2021 Feb 10.

2021
AOU Città della Salute di Torino

Giancotti A; Mattina T; Papi L; Damante G; Mazza T; Radio FC; Pantaleoni F; Versacci P; Mastromoro G; Naretto VG; Grosso E; Zonta A; Donati I; Di Marco C; Romagnoli M; Mangiameli D; Tortora G; Sirchia F; Marozza A; Andreucci E; D'Ambrosio V; Corno S; Daniele P; Pinna V; Di Giosaffatte N; Scott A; Pizzuti A; Laberge AM; Tartaglia M; et alii...

A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2. in BMJ case reports / BMJ Case Rep. 2020 Dec 13;13(12):e238108. doi: 10.1136/bcr-2020-238108.

2020
AOU Città della Salute di Torino

Zonta A; Brussino A; Dentelli P; Brusco A;

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants. in European journal of medical genetics / Eur J Med Genet. 2019 Nov;62(11):103578. doi: 10.1016/j.ejmg.2018.11.012. Epub 2018 Nov 13.

2019
AOU Città della Salute di Torino

Brusco A; Viora E; Giorgio E; Pasini B; Breda Klobus A; Valbonesi S; Zonta A; Botta G; Mancini C; Brussino A; Mancini C; Zonta A; Botta G; Breda Klobus A; Valbonesi S; Pasini B; Giorgio E; Viora E; Brusco A; Brussino A;

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism. in Medicina (Kaunas, Lithuania) / Medicina (Kaunas). 2019 Jul 7;55(7):345. doi: 10.3390/medicina55070345.

2019
AOU Città della Salute di Torino

Gironi LC; Colombo E; Brusco A; Grosso E; Naretto VG; Guala A; Di Gregorio E; Zonta A; Zottarelli F; Pasini B; Savoia P;

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. in Clinical genetics / Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25.

2017
AO Cuneo
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

De Rubeis S; Pasini B; Grosso E; Buxbaum JD; Cirillo Silengo M; Provero P; De Marchi M; Restagno G; Pelle A; Giachino DF; Savin E; Gandione M; Brussino A; Ferrero M; Mancini C; Giorgio E; Cavalieri S; Talarico F; Pappi P; Zacchetti G; Zonta A; Ungari S; Sirchia F; Sorasio L; Naretto VG; Maffè A; Arduino C; Mandrile G; Keller R; et alii...

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). in European journal of human genetics : EJHG / Eur J Hum Genet. 2016 Aug;24(9):1262-7. doi: 10.1038/ejhg.2016.19. Epub 2016 Mar 2.

2016
AOU Città della Salute di Torino

Micalizzi A; Poretti A; Romani M; Ginevrino M; Mazza T; Aiello C; Zanni G; Baumgartner B; Borgatti R; Brockmann K; Camacho A; Cantalupo G; Haeusler M; Hikel C; Klein A; Mandrile G; Mercuri E; Rating D; Romaniello R; Santorelli FM; Schimmel M; Spaccini L; Teber S; von Moers A; Wente S; Ziegler A; Zonta A; Bertini E; Boltshauser E; et alii...