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SIRCHIA F
Collezione AOU Città della Salute di Torino

  

Items : 16

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. in Genome medicine / Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y.
2024
AOU Città della Salute di Torino

Bassani S; Chrast J; Ambrosini G; Voisin N; Schütz F; Brusco A; Sirchia F; Turban L; Schubert S; Abou Jamra R; Schlump JU; DeMille D; Bayrak-Toydemir P; Nelson GR; Wong KN; Duncan L; Mosera M; Gilissen C; Vissers LELM; Pfundt R; Kersseboom R; Yttervik H; Hansen GÅM; Smeland MF; Butler KM; Lyons MJ; Carvalho CMB; Zhang C; Lupski JR; et alii...

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. in medRxiv : the preprint server for health sciences / medRxiv [Preprint]. 2024 Jan 17:2024.01.14.24301100. doi: 10.1101/2024.01.14.24301100.
2024
AOU Città della Salute di Torino

Bassani S; Chrast J; Ambrosini G; Voisin N; Schütz F; Brusco A; Sirchia F; Turban L; Schubert S; Jamra RA; Schlump JU; DeMille D; Bayrak-Toydemir P; Nelson GR; Wong KN; Duncan L; Mosera M; Gilissen C; Vissers LELM; Pfundt R; Kersseboom R; Yttervik H; Hansen GÅM; Falkenberg Smeland M; Butler KM; Lyons MJ; Carvalho CMB; Zhang C; Lupski JR; et alii...

Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques. in Clinical genetics / Clin Genet. 2022 Oct;102(4):314-323. doi: 10.1111/cge.14193. Epub 2022 Jul 21.
2022
AOU Città della Salute di Torino

Bartuli A; Cardaropoli S; Tannorella P; Pignata L; Sparago A; Cerrato F; Macchiaiolo M; Tarani L; Sirchia F; Sara O; Uliana V; Spina J; Falco M; Prada E; Melis D; Leoni C; Milani D; Cocchi G; Operti M; Russo S; Carli D; Riccio A; Ferrero GB; Mussa A;

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;

Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question. in Pediatric blood & cancer / Pediatr Blood Cancer. 2021 Sep;68(9):e29132. doi: 10.1002/pbc.29132. Epub 2021 May 24.
2021
AOU Città della Salute di Torino

Spadea M; Mussa A; Brusco A; Ferrero GB; Sirchia F; Giorgio E; Carli D; Perotti D; Quarello P; Ciceri S; Spreafico F; Fagioli F;

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. in American journal of human genetics / Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001.
2021
AOU Città della Salute di Torino

Voisin N; Schnur RE; Douzgou S; Hiatt SM; Rustad CF; Brown NJ; Earl DL; Keren B; Levchenko O; Geuer S; Verheyen S; Johnson D; Zarate YA; Han?árová M; Amor DJ; Bebin EM; Blatterer J; Brusco A; Cappuccio G; Charrow J; Chatron N; Cooper GM; Courtin T; Dadali E; Delafontaine J; Del Giudice E; Doco M; Douglas G; Eisenkölbl A; et alii...

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...

Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification. in Journal of human genetics / J Hum Genet. 2019 Nov;64(11):1083-1090. doi: 10.1038/s10038-019-0668-3. Epub 2019 Sep 9.
2019
AOU Alessandria
AOU Città della Salute di Torino

Pasini B; Grosso E; Gallone S; Marrama F; Sirchia F; Quarello P; Rubino E; Bellora S; Carando A; Garelli E; Giorgio E; Massa R; Brussino A; Brusco A;

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. in European journal of neurology / Eur J Neurol. 2019 Jan;26(1):80-86. doi: 10.1111/ene.13768. Epub 2018 Sep 3.
2019
AOU Città della Salute di Torino

Silvestri G; Piacentini S; Sirchia F; Antenora A; Barghigiani M; Tessa A; Zibetti M; Mauro A; Nigro P; Riberi E; Ferrero P; Pozzi E; Di Gregorio E; Ferrero M; Cavalieri S; Prontera P; Rubino E; Bagnoli S; Pradotto L; Rubegni A; Giorgio E; Mancini C; De Michele G; Filla A; Orsi L; Santorelli FM; Brusco A; Mancini C; Giorgio E; et alii...

A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. in American journal of medical genetics. Part A / Am J Med Genet A. 2019 Feb;179(2):306-311. doi: 10.1002/ajmg.a.61000. Epub 2018 Dec 18.
2019
AOU Città della Salute di Torino

Brussino A; Grosso E; Sobreira NLM; Bosco M; Sirchia F; Giorgio E; Brusco A; Giorgio E; Sirchia F; Bosco M; Sobreira NLM; Grosso E; Brussino A; Brusco A;

Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe. in European journal of human genetics : EJHG / Eur J Hum Genet. 2018 Jul;26(7):946-954. doi: 10.1038/s41431-018-0131-5. Epub 2018 Apr 23.
2018
AOU Città della Salute di Torino

Lucassen AM; van Langen IM; Halbersma-Konings TF; Mendes Á; Melegh B; van El CG; Turnpenny PD; Kayserili H; Cordier C; Benjamin C; Dheensa S; Carrieri D; Sirchia F; Clarke AJ; Forzano F; Kelly SE; Sirchia F; Carrieri D; Dheensa S; Benjamin C; Kayserili H; Cordier C; van El CG; Turnpenny PD; Melegh B; Mendes Á; Halbersma-Konings TF; van Langen IM; Lucassen AM; et alii...

2018
AOU Città della Salute di Torino

Sensi A; Sirchia F; Grosso E; Faletra F; Gajendrarao P; La Bianca M; Brumat M; Ambrosetti U; Ghiselli S; Orzan E; Morgutti M; Pecile V; Cappellani S; Lenarduzzi S; Morgan A; Graziano C; Seri M; Gasparini P; Girotto G; Morgan A; Lenarduzzi S; Cappellani S; Pecile V; Morgutti M; Orzan E; Ghiselli S; Ambrosetti U; Brumat M; Gajendrarao P; et alii...

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...

A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10. in European journal of endocrinology / Eur J Endocrinol. 2017 Nov;177(5):K21-K27. doi: 10.1530/EJE-17-0431. Epub 2017 Aug 17.
2017
AOU Città della Salute di Torino

Giorgio E; Rubino E; Bruselles A; Pizzi S; Rainero I; Duca S; Sirchia F; Pasini B; Tartaglia M; Brusco A;

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development. in Scientific reports / Sci Rep. 2017 Feb 8;7:42170. doi: 10.1038/srep42170.
2017
AOU Città della Salute di Torino

Zhang R; Knapp M; Suzuki K; Kajioka D; Schmidt JM; Winkler J; Yilmaz Ö; Pleschka M; Cao J; Kockum CC; Barker G; Holmdahl G; Beaman G; Keene D; Woolf AS; Cervellione RM; Cheng W; Wilkins S; Gearhart JP; Sirchia F; Di Grazia M; Ebert AK; Rösch W; Ellinger J; Jenetzky E; Zwink N; Feitz WF; Marcelis C; Schumacher J; et alii...

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q. in European journal of medical genetics / Eur J Med Genet. 2017 Apr;60(4):224-227. doi: 10.1016/j.ejmg.2017.01.010. Epub 2017 Jan 31.
2017
AOU Città della Salute di Torino

Restagno G; Di Gregorio E; Sirchia F; Grosso E; Pappi P; Talarico F; Savin E; Cavalieri S; Giorgio E; Mancini C; Pasini B; Mehta JS; Brusco A;