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Collezione AOU Città della Salute di Torino

  

Items : 38

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth. in Journal of medical genetics / J Med Genet. 2025 Mar 20;62(4):276-280. doi: 10.1136/jmg-2024-110364.
2025
AOU Città della Salute di Torino

Gazzin A; Reynolds G; Massuras S; Luca M; Coppo P; Carli D; Piglionica M; Martino S; Bagnulo R; Ferrero GB; Resta N; Mussa A;

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature. in HGG advances / HGG Adv. 2025 Jan 9;6(1):100380. doi: 10.1016/j.xhgg.2024.100380. Epub 2024 Nov 4.
2025
AOU Città della Salute di Torino

Barakat TS; Alders M; van der Smagt JJ; José van den Boogaard M; Trajkova S; van Bever Y; Polstra AM; Pfundt R; Nordgren A; Närhi A; Mignot C; Mussa A; Mizuguchi T; Matsumoto N; Marcelis C; Mancini GMS; Maas SM; Lock-Hock N; Levy MA; Kroes HY; Keren B; Kato M; Kira R; Kant SG; Hopman S; Hochstenbach R; Herkert JC; Engelen M; Vega AD; et alii...

Quantification of Lateralized Overgrowth and Genotype-Driven Tissue Composition. in Clinical genetics / Clin Genet. 2025 Feb 2. doi: 10.1111/cge.14713.
2025
AOU Città della Salute di Torino

Gazzin A; Reynolds G; Allegro D; Rossi D; Sciandra F; Afkhami HA; Cardaropoli S; Piglionica M; Resta N; Di Stefano M; Mussa A;

Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum. in Cancers / Cancers (Basel). 2024 Nov 26;16(23):3967. doi: 10.3390/cancers16233967.
2024
AOU Città della Salute di Torino

Carli D; Rondot F; Luca M; Campello A; Vallero SG; Tirtei E; Gazzin A; Cardaropoli S; Montanari F; Graziano C; Quarello P; Saadat A; Sparago A; Ferrero GB; Fagioli F; Mussa A;

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome. in Proceedings of the National Academy of Sciences of the United States of America / Proc Natl Acad Sci U S A. 2024 Mar 19;121(12):e2317601121. doi: 10.1073/pnas.2317601121. Epub 2024 M
2024
AOU Città della Salute di Torino

Pisan E; De Luca C; Brancati F; Sanchez Russo R; Li D; Bhoj E; Wenger T; Marwaha A; Johnson N; Beneteau C; Brischoux-Boucher E; Houge G; Paulsen J; Hammer TB; Ek J; Schweitzer D; Russell BE; Dutra-Clarke M; Nelson S; Douine ED; Corona RI; Dudding T; Thomson H; Low K; Belnap N; Iascone M; Priolo M; Carli D; Mussa A; et alii...

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2024 Mar;26(3):101041. doi: 10.1016/j.gim.2023.101041. Epub 2023 Dec 3.
2024
AOU Città della Salute di Torino

Alders MM; Merla G; Brusco A; Trajkova S; Mussa A; Shukarova-Angelovska E; Carli D; Asaftei SD; Piccione M; Vissers L; Salzano E; Tedder ML; Gerkes EH; Zonneveld-Huijssoon E; Brooks A; Kerkhof J; McConkey H; Levy MA; Haghshenas S; Relator R; Karimi K; Mol MO; Bouman A; Sadikovic B;

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes. in Human genetics / Hum Genet. 2024 Jun;143(6):761-773. doi: 10.1007/s00439-024-02679-w. Epub 2024 May 24.
2024
AOU Città della Salute di Torino

Vos N; Haghshenas S; van der Laan L; Russel PKM; Rooney K; Levy MA; Relator R; Kerkhof J; McConkey H; Maas SM; Vissers LELM; de Vries BBA; Pfundt R; Elting MW; van Hagen JM; Verbeek NE; Jongmans MCJ; Lakeman P; Rumping L; Bosch DGM; Vitobello A; Thauvin-Robinet C; Faivre L; Nambot S; Garde A; Willems M; Genevieve D; Nicolas G; Busa T; et alii...

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity. in HGG advances / HGG Adv. 2024 Jul 18;5(3):100309. doi: 10.1016/j.xhgg.2024.100309. Epub 2024 May 15.
2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Mussa A; Banka S; Jenkinson S; Metcalfe K; Campbell CM; Sukarova-Angelovska E; Pasini B; Petlichkovski A; McConkey H; Rooney K; Rzasa J; Dimartino P; Pippucci T; Giorgio E; Rinninella A; Pullano V; Cardaropoli S; Carestiato S; Mandrile G; Palermo F; Marinoni R; Carli D; Di Gregorio E; Ferrero E; Giovenino C; Pavinato L; Rossi Sebastiano M; Trajkova S; Kerkhof J; et alii...

RICTOR variants are associated with neurodevelopmental disorders. in European journal of human genetics : EJHG / Eur J Hum Genet. 2024 Dec 30. doi: 10.1038/s41431-024-01774-w.
2024
AOU Città della Salute di Torino

Carapito R; Molitor A; Pavinato L; Skeyni A; Lambert M; Pichot A; Jiang J; Spinnhirny P; Zimmermann L; Boucher P; Chung CWT; Elserafy N; Blair EM; Li D; Elisabeth B; Kotzaeridou U; Karch S; Wagner M; Lunsing RJ; Pfundt R; Boycott KM; Bruel AL; Mau-Them FT; Moutton S; Conti V; Mei D; Cetica V; Guerrini R; Brunet T; et alii...

Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure. in BMC medical genomics / BMC Med Genomics. 2023 Nov 27;16(1):303. doi: 10.1186/s12920-023-01747-w.
2023
ASL Città di Torino
AOU Città della Salute di Torino

Amoroso A; Carli D; Alberti C; Roccatello D; Fenoglio R; Mussa A; Calvo PL; Peruzzi L; Scolari C; Romeo CM; Luca M; Kalantari S; Brach Del Prever GM; Faini AC; Mioli F; Trotta L; Bracciamà V; Saglia C; Deaglio S; Vaisitti T;

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros). in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Nov;31(11):1333-1336. doi: 10.1038/s41431-023-01414-9. Epub 2023 Jun 26.
2023
AOU Città della Salute di Torino

Ranieri C; Resta N; Turchiano A; Bagnulo R; Piglionica M; La Selva R; Coppo P; Luca M; Gazzin A; Carli D; Cardaropoli S; Reynolds G; Mussa A;

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6.
2023
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Delledonne M; Rossato M; Tartaglia M; Pippucci T; De Rubeis S; Buxbaum JD; Pasini B; Mandrile G; Bruselles A; Froukh T; Dimartino P; Mussa A; Palermo F; Carli D; Battaglia A; Bertoli L; Fadda A; Rinninella A; Salmin P; Carestiato S; Sukarova-Angelovska E; Ferrero E; Brusco A; Pullano V; Cardaropoli S; Pavinato L; Trajkova S; Giovenino C; et alii...

2023
AOU Città della Salute di Torino

Di Giacomo MC; Cereda A; Capurso M; Piscopo C; Accadia M; Morando C; Della Monica M; Memo L; Novelli C; Garavelli L; Cappuccio G; Onesimo R; Zampino G; Selicorni A; Forleo C; Bukvic N; Susca FC; De Luisi A; Piglionica M; Loconte DC; Turchiano A; Maitz S; Melis D; Bartuli A; Ferrero GB; Bagnulo R; Buonuomo PS; Pantaleo A; Ranieri C; 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;

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies. in Genes, chromosomes & cancer / Genes Chromosomes Cancer. 2022 Nov;61(11):689-695. doi: 10.1002/gcc.23086. Epub 2022 Jul 16.
2022
AOU Città della Salute di Torino

Santoro F; Bertin D; Stella A; Vallero SG; Garganese A; Iacoviello M; Ranieri C; Bagnulo R; Pantaleo A; Coppo P; Cardaropoli S; Turchiano A; Mussa A; Carli D; Ferrero GB; Resta N;

The broad spectrum of COVID-like patients initially negative at RT-PCR testing: a cohort study. in BMC public health / BMC Public Health. 2022 Jan 7;22(1):45. doi: 10.1186/s12889-021-12409-w.
2022
ASL Città di Torino
ASL Torino 3
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ricceri F; Boccuzzi A; Sacerdote C; Nota F; De Salve AV; De Leo AM; Mussa A; Caramello V; Macciotta A; Bar F;

Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians. in International journal of environmental research and public health / Int J Environ Res Public Health. 2022 Feb 20;19(4):2448. doi: 10.3390/ijerph19042448.
2022
AOU Città della Salute di Torino

Defabianis P; Mussa A; Ninivaggi R; Carli D; Romano F;

Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome. in Genes, chromosomes & cancer / Genes Chromosomes Cancer. 2022 Dec;61(12):740-746. doi: 10.1002/gcc.23092. Epub 2022 Sep 19.
2022
AOU Città della Salute di Torino

Medico E; Brusco A; Ramenghi U; Palumbo M; Pullano V; Lepri FR; Cesario C; La Selva R; Coppo P; Tessaris D; Cardaropoli S; Carli D; De Sanctis L; Ferrero GB; Mussa A;

Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway. in American journal of medical genetics. Part C, Seminars in medical genetics / Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):520-529. doi: 10.1002/ajmg.c.32021. Epub 2022 Dec
2022
AOU Città della Salute di Torino

Carli D; Resta N; Ferrero GB; Ruggieri M; Mussa A;

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;

Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2021 Nov;23(11):2223-2224. doi: 10.1038/s41436-021-01256-0. Epub 2021 Jul 7.
2021
AOU Città della Salute di Torino

Mussa A; Carli D; Rossi K; Lepore Signorile M; Piglionica M; Ranieri C; Simone C; Lugli L; Grossi V; Resta N; Calabrese O;

False-negative real-time polymerase chain reaction tests in COVID-19 patients: an epidemiological analysis of 302 patients. in Public health / Public Health. 2021 Nov;200:84-90. doi: 10.1016/j.puhe.2021.09.010. Epub 2021 Sep 22.
2021
ASL Città di Torino
ASL Torino 3
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Boccuzzi A; Ricceri F; Sacerdote C; Solitro F; Ling CYG; Nota F; Panno D; Bar F; Mussa A; De Leo AM; De Salve AV; Caramello V; Macciotta A;

Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum. in Clinical genetics / Clin Genet. 2021 Nov;100(5):624-627. doi: 10.1111/cge.14047. Epub 2021 Aug 23.
2021
AOU Città della Salute di Torino

Resta N; Ferrero GB; Fagioli F; Cardaropoli S; Ranieri C; Santoro F; La Selva R; Francia di Celle P; Coppo P; Manicone R; Kalantari S; Carli D; Mussa A;

A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. in Clinical genetics / Clin Genet. 2021 May;99(5):719-723. doi: 10.1111/cge.13931. Epub 2021 Feb 8.
2021
AOU Città della Salute di Torino

Resta N; Iacoviello M; Ranieri C; Cardaropoli S; Zinali F; La Selva R; Coppo P; Fusillo A; Ferrero GB; Carli D; Mussa A;

Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth. in The Journal of pediatrics / J Pediatr. 2021 Jul;234:123-127. doi: 10.1016/j.jpeds.2021.01.020. Epub 2021 Jan 16.
2021
AOU Città della Salute di Torino

Mussa A; Ferrero GB; Andreacchio A; Resta N; Marcucci L; Cardaropoli S; Cravino M; Spolaore S; Zinali F; Paonessa M; Carli D; De Pellegrin M; Franceschi L;

Lateralized and Segmental Overgrowth in Children. in Cancers / Cancers (Basel). 2021 Dec 7;13(24):6166. doi: 10.3390/cancers13246166.
2021
AOU Città della Salute di Torino

Mussa A; Carli D; Cardaropoli S; Ferrero GB; Resta N;

2021
AOU Città della Salute di Torino

Mussa A; Carli D; Giorgio E; Villar AM; Cardaropoli S; Carbonara C; Campagnoli MF; Galletto P; Palumbo M; Olivieri S; Isella C; Andelfinger G; Tartaglia M; Botta G; Brusco A; Medico E; Ferrero GB;

Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome. in American journal of medical genetics. Part A / Am J Med Genet A. 2020 Dec;182(12):3052-3055. doi: 10.1002/ajmg.a.61900. Epub 2020 Oct 14.
2020
AOU Città della Salute di Torino

Ferrero GB; Mussa A; Bongioanni MR; Bergui M; Gazzin A; Carli D;

2019
AOU Città della Salute di Torino

Mussa A; Ciuffreda VP; Sauro P; Pagliardini V; Pagliardini S; Carli D; Kalish JM; Fagioli F; Pavanello E; Ferrero GB;

Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome. in Pediatric blood & cancer / Pediatr Blood Cancer. 2019 Jan;66(1):e27492. doi: 10.1002/pbc.27492. Epub 2018 Sep 30.
2019
AOU Città della Salute di Torino

Ferrero GB; Carli D; Duffy KA; Mussa A; Kalish JM; Mussa A; Duffy KA; Carli D; Ferrero GB; Kalish JM;

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2019 Aug;21(8):1808-1820. doi: 10.1038/s41436-018-0416-7. Epub 2019 Jan 12.
2019
AOU Città della Salute di Torino

Williams CA; Ferrero GB; Bliek J; Acurzio B; Gabbarini F; Gazzin A; Mussa A; Angelini C; Carli D; Franzese M; Pignata L; Alders M; Frints SGM; Maas SM; Hill-Harfe K; Freschi A; Sparago A; Valente FM; Riccio A; Cerrato F;

Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele. in Journal of assisted reproduction and genetics / J Assist Reprod Genet. 2018 Oct;35(10):1925-1926. doi: 10.1007/s10815-018-1288-0. Epub 2018 Aug 8.
2018
AOU Città della Salute di Torino

Mussa A; Carli D; Cardaropoli S; Molinatto C; Ferrero GB; Mussa A; Carli D; Cardaropoli S; Molinatto C; Ferrero GB;

2018
AOU Città della Salute di Torino

Laforgia N; Tzialla C; Mussa A; Tavella E; Maule M; Quercia M; Fioretti M; Rinaldi M; Bollani L; Decembrino L; Memo L; Betta PM; Cattani S; Messner H; Pugni L; Stolfi I; Meyer M; García Sánchez R; Manzoni P; Mosca F; Magaldi R; Mostert M; Farina D;

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply. in European journal of human genetics : EJHG / Eur J Hum Genet. 2018 Apr;26(4):471-472. doi: 10.1038/s41431-017-0074-2. Epub 2018 Feb 15.
2018
AOU Città della Salute di Torino

Brioude F; Hennekam R; Bliek J; Coze C; Eggermann T; Ferrero GB; Kratz C; Bouc YL; Maas SM; Mackay DJG; Maher ER; Mussa A; Netchine I;

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. in Nature reviews. Endocrinology / Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29.
2018
AOU Città della Salute di Torino

Brioude F; Kalish JM; Mussa A; Foster AC; Bliek J; Ferrero GB; Boonen SE; Cole T; Baker R; Bertoletti M; Cocchi G; Coze C; De Pellegrin M; Hussain K; Ibrahim A; Kilby MD; Krajewska-Walasek M; Kratz CP; Ladusans EJ; Lapunzina P; Le Bouc Y; Maas SM; Macdonald F; Õunap K; Peruzzi L; Rossignol S; Russo S; Shipster C; Skórka A; et alii...

Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome. in American journal of medical genetics. Part A / Am J Med Genet A. 2017 Mar;173(3):585-587. doi: 10.1002/ajmg.a.38077.
2017
AOU Città della Salute di Torino

Mussa A; Ferrero GB;

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome. in Pediatrics / Pediatrics. 2017 Jul;140(1):e20164311. doi: 10.1542/peds.2016-4311. Epub 2017 Jun 20.
2017
AOU Città della Salute di Torino

Mussa A; Molinatto C; Cerrato F; Palumbo O; Carella M; Baldassarre G; Carli D; Peris C; Riccio A; Ferrero GB; Mussa A; Molinatto C; Cerrato F; Palumbo O; Carella M; Baldassarre G; Carli D; Peris C; Riccio A; Ferrero GB;

Predictors of Malignancy in Children with Thyroid Nodules. in The Journal of pediatrics / J Pediatr. 2015 Oct;167(4):886-892.e1. doi: 10.1016/j.jpeds.2015.06.026. Epub 2015 Jul 8.
2015
AOU Città della Salute di Torino

Mussa A; De Andrea M; Motta M; Mormile A; Palestini N; Corrias A;