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Collezione AOU Città della Salute di Torino

  

Items : 75

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;

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations. in Clinical genetics / Clin Genet. 2025 Mar;107(3):354-358. doi: 10.1111/cge.14654. Epub 2024 Nov 27.
2025
AO Cuneo
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Brusco A; Buxbaum JD; Tartaglia M; Sadikovic B; De Rubeis S; Cardaropoli S; Bruselles A; Balzo M; Todd E; Rzasa J; McConkey H; Kerkhof J; De Sanctis L; Mantovani G; Sorasio L; Carestiato S; Trajkova S; Pavinato L;

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;

Identification of the DNA methylation signature of Mowat-Wilson syndrome. in European journal of human genetics : EJHG / Eur J Hum Genet. 2024 Jun;32(6):619-629. doi: 10.1038/s41431-024-01548-4. Epub 2024 Feb 13.
2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Trajkova S; Zuntini R; Relator R; Haghshenas S; Levy MA; Garavelli L; Sadikovic B; Ferrero GB; Tartaglia M; McConkey H; Zollino M; Pullano V; Brusco A; Pavinato L; Ivanovski I; Fetta A; Sukarova E; Lauzon C; Cordelli DM; Mandrile G; Baldo C; Rooney K; Caraffi SG; van der Laan L;

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...

Influence of Safety Warnings on the Prescribing Attitude of JAK Inhibitors for Rheumatoid Arthritis in Italy. in Journal of clinical medicine / J Clin Med. 2024 Jul 4;13(13):3929. doi: 10.3390/jcm13133929.
2024
ASL Cuneo 1
ASL Novara
ASL Vercelli
AOU Città della Salute di Torino

Raffeiner B; Ariani A; Molica Colella F; Ferrero G; Franchina V; De Andres MI; Salvarani C; Sandri G; Giuggioli D; Bernardi S; Mascella F; Rovera G; Marchetta A; Focherini MC; Fiorenza A; Reta M; Foti R; Amato G; De Lucia F; Dal Bosco Y; Foti R; Serale F; Bianchi G; Bruzzese V; Camellino D; Ditto MC; Fusaro E; Platè I; Mansueto N; 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...

2024
ASL Cuneo 1
ASL Novara
ASL Vercelli
AOU Città della Salute di Torino

Parisi S; Ariani A; Ferrero G; Molica Colella F; Giuggioli D; Salvarani C; Franchina V; Sandri G; Bernardi S; Rovera G; Marchetta A; Focherini MC; Mascella F; Fiorenza A; Reta M; Foti R; Bosco YD; Amato G; De Lucia F; Serale F; Foti R; Bianchi G; Camellino D; Bruzzese V; Ditto MC; Ianniello A; Fusaro E; Sabatini E; Platè I; et alii...

Baseline Ultrasound Assessment Improves the Response to Apremilast in Patients with Psoriatic Arthritis: Results from a Multicentre Study. in Mediterranean journal of rheumatology / Mediterr J Rheumatol. 2024 Dec 31;35(4):639-644. doi: 10.31138/mjr.271223.bua. eCollection 2024 Dec.
2024
ASL Novara
AOU Città della Salute di Torino

Foti R; Riva M; Arrigoni E; Marchetta A; Ferrero G; Santilli D; Colella FM; Bosco YD; De Lucia F; Lucchini G; Salvarani C; Amato G; Di Donato E; Platè I; Franchina V; Volpe A; Ianniello A; Colina M; Bravi E; Girelli F; Andracco R; Scolieri P; Caccavale R; Lumetti F; Molica-Colella AB; Visalli E; Becciolini A; Parisi S; Medico PD; et alii...

Multicenter observational study on the efficacy of selective Janus Kinase-1 inhibitor upatacitinib in rheumatoid arthritis. in Minerva medica / Minerva Med. 2024 Aug;115(4):430-438. doi: 10.23736/S0026-4806.24.09409-6.
2024
ASL Cuneo 1
ASL Novara
ASL Vercelli
AOU Città della Salute di Torino

Ariani A; Ferrero G; Franchina V; Molica Colella F; Salvarani C; DE Andres MI; Giuggioli D; Sandri G; Bernardi S; Mascella F; Focherini MC; Rovera G; Marchetta A; Fiorenza A; Reta M; Foti R; Dal Bosco Y; Foti R; Amato G; DE Lucia F; Serale F; Bianchi G; Camellino D; Bruzzese V; Ditto MC; Fusaro E; Ianniello A; Platè I; Mansueto N; et alii...

MicroRNA dysregulation in ataxia telangiectasia. in Frontiers in immunology / Front Immunol. 2024 Aug 19;15:1444130. doi: 10.3389/fimmu.2024.1444130. eCollection 2024.
2024
ARPA Piemonte
AOU Città della Salute di Torino

Parenti G; Brusco A; Roncarati R; Ferracin M; Ferrero G; Pozzi E; Romano R; Montin D; Conti F; Bertolini P; Fabio G; Carrabba M; Baselli LA; Dellepiane RM; Badolato R; Soresina A; Damiano C; Giardino G; De Rosa A; Carissimo A; Toriello E; Tarallo A; Cirillo E; Pignata C;

A Fecal MicroRNA Signature by Small RNA Sequencing Accurately Distinguishes Colorectal Cancers: Results From a Multicenter Study. in Gastroenterology / Gastroenterology. 2023 Sep;165(3):582-599.e8. doi: 10.1053/j.gastro.2023.05.037. Epub 2023 May 30.
2023
AOU Città della Salute di Torino
ASL Biella

Vodicka P; Budinska E; Hucl T; Macinga P; Levy M; Vycital O; Liska V; Vodickova L; Vymetalkova V; Senore C; Peyre S; Clerico G; Trompetto M; Francavilla A; Licheri N; Tarallo S; Gallo G; Ferrero G; Pardini B; Cordero F; Naccarati A;

Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. in Nature communications / Nat Commun. 2023 Oct 9;14(1):6301. doi: 10.1038/s41467-023-42123-7.
2023
AOU Città della Salute di Torino

Melo US; Jatzlau J; Prada-Medina CA; Flex E; Hartmann S; Ali S; Schöpflin R; Bernardini L; Ciolfi A; Moeinzadeh MH; Klever MK; Altay A; Vallecillo-García P; Carpentieri G; Delledonne M; Ort MJ; Schwestka M; Ferrero GB; Tartaglia M; Brusco A; Gossen M; Strunk D; Geißler S; Mundlos S; Stricker S; Knaus P; Giorgio E; Spielmann M;

Profiling small RNAs in fecal immunochemical tests: is it possible? in Molecular cancer / Mol Cancer. 2023 Oct 3;22(1):161. doi: 10.1186/s12943-023-01869-w.
2023
AOU Città della Salute di Torino

Birkeland E; Ferrero G; Pardini B; Umu SU; Tarallo S; Bulfamante S; Hoff G; Senore C; Rounge TB; Naccarati A;

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1.
2023
AOU Città della Salute di Torino

Smedley D; Buxbaum JD; De Rubeis S; Tartaglia M; Cardaropoli S; Bruselles A; Kaiyrzhanov R; Chand P; Efthymiou S; Sisodiya SM; Vestito L; Kelley WV; Hiatt SM; Spada M; Biamino E; Marcantoni A; Di Luca M; Costa A; Cipriani V; Eberini I; Palazzolo L; Chiantia G; Gurgone A; Barzasi M; Stanic J; Pavinato L; Ferrero GB; Giustetto M; Gardoni F; et alii...

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...

Occult ischemic bone lesions in children with sickle cell disease: A study of prevalence. in European journal of haematology / Eur J Haematol. 2023 Mar;110(3):236-242. doi: 10.1111/ejh.13898. Epub 2022 Nov 20.
2023
AOU Città della Salute di Torino

Ferrero GB; Margarita G; Vigliani V; Mattavelli M; Turrini S; Voi V;

Therapeutic Effects of Apremilast on Enthesitis and Dactylitis in Real Clinical Setting: An Italian Multicenter Study. in Journal of clinical medicine / J Clin Med. 2023 Jun 7;12(12):3892. doi: 10.3390/jcm12123892.
2023
AOU Città della Salute di Torino

Lo Gullo A; Becciolini A; Parisi S; Del Medico P; Farina A; Visalli E; Dal Bosco Y; Molica Colella AB; Lumetti F; Caccavale R; Scolieri P; Andracco R; Girelli F; Bravi E; Colina M; Volpe A; Ianniello A; Ditto MC; Nucera V; Franchina V; Platé I; Di Donato E; Amato G; Salvarani C; Bernardi S; Lucchini G; De Lucia F; Molica Colella F; Santilli D; et alii...

2023
AO Ordine Mauriziano
AOU Città della Salute di Torino

Vineis P; Calvo PL; Bruno M; Astegiano M; Crocella L; Guiotto C; Stalla F; Francescato G; Grioni S; Sieri S; Caviglia GP; Zanatto L; Tarallo S; Pardini B; Francavilla A; Ferrero G; Ribaldone DG; Naccarati A;

An Italian Multicenter Perspective Harmonization Trial for the Assessment of MET Exon 14 Skipping Mutations in Standard Reference Samples. in Diagnostics (Basel, Switzerland) / Diagnostics (Basel). 2023 Feb 8;13(4):629. doi: 10.3390/diagnostics13040629.
2023
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Seminati D; Lacalamita R; Tommasi S; Galafate D; Scarpino S; Salemi D; Santoro A; Farioli RM; Movilia A; Giusti A; Sibona F; Francia di Celle P; Bresciani MA; Ferrero G; Buglioni S; Bartoccini F; Bessi S; Aquino G; Gragnano G; Pisapia P; Russo G; Pepe F; Bironzo P; Sajjadi E; Novello S; Pagni F; Troncone G; Malapelle U;

2023
ASL Novara
AOU Città della Salute di Torino

Arrigoni E; Marchetta A; Ferrero G; Mansueto N; Santilli D; Molica Colella F; De Lucia F; Lucchini G; Bernardi S; Salvarani C; Donato ED; Amato G; Platè I; Franchina V; Nucera V; Ditto MC; Ianniello A; Volpe A; Colina M; Bravi E; Andracco R; Girelli F; Scolieri P; Caccavale R; Lumetti F; Molica Colella AB; Visalli E; Farina A; Del Medico P; et alii...

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. in Brain : a journal of neurology / Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278.
2023
AOU Città della Salute di Torino

Pavinato L; Delle Vedove A; Carli D; Ferrero M; Carestiato S; Howe JL; Agolini E; Coviello DA; van de Laar I; Au PYB; Di Gregorio E; Fabbiani A; Croci S; Mencarelli MA; Bruno LP; Renieri A; Veltra D; Sofocleous C; Faivre L; Mazel B; Safraou H; Denommé-Pichon AS; van Slegtenhorst MA; Giesbertz N; van Jaarsveld RH; Childers A; Rogers RC; Novelli A; De Rubeis S; 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 exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Dec;31(12):1430-1439. doi: 10.1038/s41431-023-01451-4. Epub 2023 Sep 7.
2023
AOU Città della Salute di Torino

Geddes GC; Landis BJ; Helvaty LR; Rankin J; Kerstjens-Frederikse WS; Brusco A; Ferrero GB; Neas K; Armstrong R; Tan TY; Burgess T; Kini U; Sasaki E; Kraus A; Breckpot J; Gewillig M; Louw JJ; Parker MJ; Clayton-Smith J; Joss S; Dorf ILH; Vogel I; Luna PN; Owen N; Zhao X; Huth EA; McBride KL; Ware SM; Shaw CA; et alii...

Long-Term Retention Rate of Tofacitinib in Rheumatoid Arthritis: An Italian Multicenter Retrospective Cohort Study. in Medicina (Kaunas, Lithuania) / Medicina (Kaunas). 2023 Aug 17;59(8):1480. doi: 10.3390/medicina59081480.
2023
ASL Cuneo 1
ASL Novara
ASL Vercelli
AOU Città della Salute di Torino

Ariani A; Franchina V; Ferrero G; Molica Colella F; Salvarani C; Giuggioli D; Sandri G; Focherini MC; Mascella F; Bernardi S; Marchetta A; Rovera G; Foti R; Reta M; Fiorenza A; Dal Bosco Y; De Lucia F; Amato G; Foti R; Serale F; Camellino D; Bianchi G; Ditto MC; Bruzzese V; Fusaro E; Ianniello A; Platè I; Mansueto N; Arrigoni E; et alii...

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2023 Aug;25(8):100871. doi: 10.1016/j.gim.2023.100871. Epub 2023 Apr 28.
2023
AOU Città della Salute di Torino

Sadikovic B; Mannens MMAM; Alders M; Hochstenbach R; Misra-Isrie M; Ferrero GB; Brusco A; Oegema R; Verbeek N; van der Smagt JJ; Volker-Touw CML; de Villemeur TB; Keren B; Terrone G; Mignot C; Brunetti-Pierri N; Levy MA; Vos N; Relator R; Lauffer P; Trajkova S; Haghshenas S; Rooney K; van der Laan L; van Haelst MM; Henneman P;

Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. in Nature communications / Nat Commun. 2023 Apr 11;14(1):2034. doi: 10.1038/s41467-023-37585-8.
2023
AOU Città della Salute di Torino

Melo US; Jatzlau J; Prada-Medina CA; Flex E; Hartmann S; Ali S; Schöpflin R; Bernardini L; Ciolfi A; Moeinzadeh MH; Klever MK; Altay A; Vallecillo-García P; Carpentieri G; Delledonne M; Ort MJ; Schwestka M; Ferrero GB; Tartaglia M; Brusco A; Gossen M; Strunk D; Geißler S; Mundlos S; Stricker S; Knaus P; Giorgio E; Spielmann M;

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. in Nature genetics / Nat Genet. 2022 Sep;54(9):1320-1331. doi: 10.1038/s41588-022-01104-0. Epub 2022 Aug 18.
2022
AOU Città della Salute di Torino

Fu JM; Satterstrom FK; Peng M; Brand H; Collins RL; Dong S; Wamsley B; Klei L; Wang L; Hao SP; Stevens CR; Cusick C; Babadi M; Banks E; Collins B; Dodge S; Gabriel SB; Gauthier L; Lee SK; Liang L; Ljungdahl A; Mahjani B; Sloofman L; Smirnov AN; Barbosa M; Betancur C; Brusco A; Chung BHY; Cook EH; et alii...

Apremilast retention rate in clinical practice: observations from an Italian multi-center study. in Clinical rheumatology / Clin Rheumatol. 2022 Oct;41(10):3219-3225. doi: 10.1007/s10067-022-06255-3. Epub 2022 Jul 7.
2022
ASL Novara
AOU Città della Salute di Torino

Becciolini A; Fusaro E; Paroli M; Bruzzese V; Sandri G; Foti R; Arrigoni E; Mozzani F; Marchetta A; Ferrero G; Molica Colella F; Santilli D; De Lucia F; Lucchini G; Amato G; Salvarani C; Di Donato E; Platè I; Ianniello A; Franchina V; Colina M; Volpe A; Bravi E; Andracco R; Girelli F; Scolieri P; Caccavale R; Molica Colella AB; Lumetti F; et alii...

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. in American journal of medical genetics. Part A / Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29.
2022
AOU Città della Salute di Torino

Cole T; Morton J; Turnpenny PD; McKee S; Lam WWK; Harrison RE; Shannon NL; Varghese V; Bernardini L; Giuffrida MG; Dean J; McMullan DJ; Boogaerts A; Van Den Bogaert K; Joubert M; Beneteau C; Wellesley D; Di Gregorio E; Brusco A; Ferrero GB; Neas K; Rustad CF; Graziani L; Digilio MC; Capolino R; Dentici ML; Novelli A; Di Tommaso S; Hernandez-Garcia A; 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;

Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. in Journal of medical genetics / J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15.
2022
AOU Città della Salute di Torino

Ferrero GB; Buxbaum JD; Dimartino P; De Rubeis S; Colson C; Ranguin K; Giuffrè M; Antona V; Radio FC; Giorgio E; Carli D; Prota V; Pippucci T; Bruselles A; Ciolfi A; Arauz-Garofalo G; Vilaseca M; Gay M; Andreoli C; Sanchiz-Calvo M; Pavinato L; Villamor-Payà M; Tartaglia M; Martinelli S; Stracker TH; Brusco A;

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;

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;

Bowel loop sign in a newborn. in Archives of disease in childhood. Fetal and neonatal edition / Arch Dis Child Fetal Neonatal Ed. 2021 May;106(3):1-2. doi: 10.1136/archdischild-2020-318939. Epub 2
2021
AOU Città della Salute di Torino

Suteu L; Carli D; Cortese MG; Schleef J; Guanà R; Garofalo S; Ferrero GB; Gennari F;

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;

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Jun;185(6):1712-1720. doi: 10.1002/ajmg.a.62157. Epub 2021 Mar 6.
2021
ASL Città di Torino
AOU Città della Salute di Torino

Brusco A; Keller R; Buxbaum J; Ferrero GB; De Rubeis S; Tartaglia M; Petlichkovski A; Pippucci T; Dimartino P; Radio FC; Bruselles A; Giorgio E; Grosso E; Trajkova S; Pavinato L;

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;

Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5). in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Feb;185(2):608-613. doi: 10.1002/ajmg.a.62001. Epub 2020 Dec 9.
2021
AOU Città della Salute di Torino

Romano C; Ferrero GB; Galesi O; Giorgio E; Magini P; Carli D; Greco D; Innella G; Brusco A; Graziano C;

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;

2021
AO Cuneo
AOU Città della Salute di Torino

Longo F; Piga A; Ferrero GB; Fava A; Giorgi M; Alunni G; Gaglioti CM; Barbero U; Gagliardi M; Fornari F;

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review. in Brain sciences / Brain Sci. 2020 Oct 28;10(11):788. doi: 10.3390/brainsci10110788.
2020
AOU Città della Salute di Torino

Trajkova S; Di Gregorio E; Ferrero GB; Carli D; Pavinato L; Delplancq G; Kuentz P; Brusco A;

In pancreatic cancer, chemotherapy increases antitumor responses to tumor-associated antigens and potentiates DNA vaccination. in Journal for immunotherapy of cancer / J Immunother Cancer. 2020 Oct;8(2):e001071. doi: 10.1136/jitc-2020-001071.
2020
AOU Città della Salute di Torino

Mandili G; Curcio C; Bulfamante S; Follia L; Ferrero G; Mazza E; Principe M; Cordero F; Satolli MA; Spadi R; Evangelista A; Giordano D; Viet D; Cappello P; Novelli F;

2020
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Hanash SM; Evangelista A; Satolli MA; Spadi R; Giordano D; Momin AA; Capello M; Hong W; Katayama H; Ferrero G; Follia L; Mandili G; Cordero F; Novelli F;

Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study. in Birth defects research / Birth Defects Res. 2020 Jun;112(10):725-731. doi: 10.1002/bdr2.1670.
2020
AOU Città della Salute di Torino

Calcagni G; Gagliostro G; Limongelli G; Unolt M; De Luca E; Digilio MC; Baban A; Albanese SB; Ferrero GB; Baldassarre G; Agnoletti G; Banaudi E; Marek J; Kaski JP; Tuo G; Marasini M; Cairello F; Madrigali A; Pacileo G; Russo MG; Milanesi O; Formigari R; Brighenti M; Ragni L; Donti A; Drago F; Dallapiccola B; Tartaglia M; Marino B; et alii...

Esophageal duplication cyst in newborn. in Pediatrics and neonatology / Pediatr Neonatol. 2020 Feb;61(1):121-122. doi: 10.1016/j.pedneo.2019.08.007. Epub 2019 Sep 5.
2020
AOU Città della Salute di Torino

Ferrero GB; Carli D; Cortese MG; Suteu L; Guanà R; Schleef J; Garofalo S; Gennari F;

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;

ECG in noonan syndrome: beyond the "normal abnormalities". in Minerva cardioangiologica / Minerva Cardioangiol. 2019 Jun;67(3):256-257. doi: 10.23736/S0026-4725.19.04882-5. Epub 2019 Mar 18.
2019
AOU Città della Salute di Torino

Mazza GA; Banaudi E; Ferrero GB; Baldassarre G; Agnoletti G;

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations. in Human mutation / Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18.
2019
AOU Città della Salute di Torino

Carli D; Giorgio E; Pantaleoni F; Bruselles A; Barresi S; Riberi E; Licciardi F; Gazzin A; Baldassarre G; Pizzi S; Niceta M; Radio FC; Molinatto C; Montin D; Calvo PL; Ciolfi A; Fleischer N; Ferrero GB; Brusco A; Tartaglia M;

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;

Integrative Analysis of Novel Metabolic Subtypes in Pancreatic Cancer Fosters New Prognostic Biomarkers. in Frontiers in oncology / Front Oncol. 2019 Feb 27;9:115. doi: 10.3389/fonc.2019.00115. eCollection 2019.
2019
AOU Città della Salute di Torino

Follia L; Ferrero G; Mandili G; Beccuti M; Giordano D; Spadi R; Satolli MA; Evangelista A; Katayama H; Hong W; Momin AA; Capello M; Hanash SM; Novelli F; Cordero 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;

Small non-coding RNA profiling in human biofluids and surrogate tissues from healthy individuals: description of the diverse and most represented species. in Oncotarget / Oncotarget. 2017 Dec 14;9(3):3097-3111. doi: 10.18632/oncotarget.23203. eCollection 2018 Jan 9.
2018
AOU Città della Salute di Torino

Calogero RA; Vineis P; Matullo G; Kulkarni N; Allasia M; Ronco G; Gallo G; Riccardo F; Tarallo S; Arigoni M; Cordero F; Ferrero G; Pardini B; Naccarati A;

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells. in Biology of sex differences / Biol Sex Differ. 2018 Feb 20;9(1):10. doi: 10.1186/s13293-018-0169-7.
2018
AOU Città della Salute di Torino

Ho B; Greenlaw K; Al Tuwaijri A; Moussette S; Martínez F; Giorgio E; Brusco A; Ferrero GB; Linhares ND; Valadares ER; Svartman M; Kalscheuer VM; Rodríguez Criado G; Laprise C; Greenwood CMT; Naumova AK;

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results. in Data in brief / Data Brief. 2017 Dec 2;16:649-654. doi: 10.1016/j.dib.2017.11.085. eCollection 2018 Feb.
2018
AOU Città della Salute di Torino

Marino B; Brighenti M; Tartaglia M; Dallapiccola B; Formigari R; Marasini M; Cairello F; Messina D; Pacileo G; Milanesi O; Tuo G; Russo MG; Kaski JP; Marek J; Agnoletti G; Banaudi E; De Luca E; Ferrero GB; Baldassarre G; Versacci P; Baban A; Albanese SB; Gesualdo F; Digilio MC; Calcagni G; Limongelli G; D'Ambrosio A;

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...

Pregnancy Epigenetic Signature in T Helper 17 and T Regulatory Cells in Multiple Sclerosis. in Frontiers in immunology / Front Immunol. 2019 Jan 8;9:3075. doi: 10.3389/fimmu.2018.03075. eCollection 2018.
2018
AOU Città della Salute di Torino

Cordero F; Brescia Morra V; Lanzillo R; Marsili A; Puorro G; Cordioli C; Turrini MV; Todros T; Cardaropoli S; D'Antuono L; Novelli F; De Mercanti S; Inaudi I; Bardina V; Ferrero G; Maglione A; Rolla S; Iannello A; De Bortoli M; Durelli L; Visconti A; Cutrupi S; Clerico M;

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results. in International journal of cardiology / Int J Cardiol. 2017 Oct 15;245:92-98. doi: 10.1016/j.ijcard.2017.07.068. Epub 2017 Jul 21.
2017
AOU Città della Salute di Torino

Calcagni G; Limongelli G; D'Ambrosio A; Gesualdo F; Digilio MC; Baban A; Albanese SB; Versacci P; De Luca E; Ferrero GB; Baldassarre G; Agnoletti G; Banaudi E; Marek J; Kaski JP; Tuo G; Russo MG; Pacileo G; Milanesi O; Messina D; Marasini M; Cairello F; Formigari R; Brighenti M; Dallapiccola B; Tartaglia M; Marino B;

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...

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. in European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society / Eur J Paediatr Neurol. 2017 May;21(3):475-484. doi: 10.1016/j.ejpn.2016.12.005. Epub 2016 Dec 19.
2017
AOU Città della Salute di Torino

Ferrero GB; Amoroso A; Borelli I; Riberi E; Ferrero M; Pozzi E; Mancini C; Cavalieri S; Di Gregorio E; Calcia A; Pizzi S; Caputo V; Ciolfi A; Bruselles A; Belligni EF; Biamino E; Giorgio E; Brussino A; Tartaglia M; Brusco A;

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;

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics / Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):290-9. doi: 10.1002/ajmg.b.32406. Epub 2015
2016
AOU Città della Salute di Torino

Cirillo Silengo M; De Rubeis S; Fea AM; Talarico F; Pappi P; Cavalieri S; Giorgio E; Mancini C; Calcia A; Gandione M; Riberi E; Keller R; Belligni EF; Di Gregorio E; Biamino E; Ferrero GB; Brusco A;

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. in American journal of medical genetics. Part A / Am J Med Genet A. 2016 Jul;170(7):1772-9. doi: 10.1002/ajmg.a.37649. Epub 2016 Apr 25.
2016
AOU Città della Salute di Torino

Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A; Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; et alii...

Patellofemoral Joint Arthroplasty: Our Experience in Isolated Patellofemoral and Bicompartmental Arthritic Knees. in Clinical medicine insights. Arthritis and musculoskeletal disorders / Clin Med Insights Arthritis Musculoskelet Disord. 2016 Nov 15;9:189-193. doi: 10.4137/CMAMD.S40498.
2016
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Massè A; Ferrero G; Schirò M; Atzori F; Sabatini L; Sabatini L; Schirò M; Atzori F; Ferrero G; Massè A;

Risk factors for shoulder pain in patients with spinal cord injury: a multicenter study. in Musculoskeletal surgery / Musculoskelet Surg. 2015 Sep;99 Suppl 1:S53-6. doi: 10.1007/s12306-015-0363-2. Epub 2015 May 23.
2015
AOU Città della Salute di Torino

Ferrero G; Mijno E; Actis MV; Zampa A; Ratto N; Arpaia A; Massè A;

2015
AOU Città della Salute di Torino

Cordero F; Ferrero G; Polidoro S; Fiorito G; Campanella G; Sacerdote C; Mattiello A; Masala G; Agnoli C; Frasca G; Panico S; Palli D; Krogh V; Tumino R; Vineis P; Naccarati A;

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. in Molecular cytogenetics / Mol Cytogenet. 2014 Nov 19;7(1):82. doi: 10.1186/s13039-014-0082-7. eCollection 2014.
2014
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Botta G; Mandrile G; Restagno G; Asnaghi V; Grosso M; Gandione M; Pappi P; Talarico F; Cavalieri S; Giorgio E; Mancini C; Calcia A; Fiocchi F; Gai G; Naretto VG; D'Alessandro G; Belligni EF; Biamino E; Savin E; Di Gregorio E; Silengo MC; Grosso E; Ferrero GB; Brusco A;