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306 results

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Page 1
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: genuardi m. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi E, Vaisfeld A, Fiori S, Novelli A, Spartano S, Faggiano MV, Giovanniello T, Angeloni A, Vento G, Santoloci R, Gigli F, D'Amico A, Costa S, Porzi A, Panella M, Ticci C, Daniotti M, Sacchini M, Boschi I, Dani C, Agostiniani R, Bertini E, Lanzone A, Lamarca G, Genuardi M, Pane M, Donati MA, Mercuri E, Tiziano FD; Italian SMA-NBS group. Abiusi E, et al. Among authors: genuardi m. J Med Genet. 2023 Jul;60(7):697-705. doi: 10.1136/jmg-2022-108873. Epub 2022 Nov 22. J Med Genet. 2023. PMID: 36414255
Bridging the educational gaps of health professionals in oncogenomics: results from a pilot e-learning course.
Stellacci E, Martinelli S, Carbone P, Demuru E, Genuardi M, Ghiorzo P, Novelli G, Di Pucchio A, Regini FM, Guerrera D, Vittozzi A, Barbina D, Venanzi S, van den Bulcke M, Boccia S, Mazzaccara A, De Nicolo A, De Angelis R. Stellacci E, et al. Among authors: genuardi m. Front Med (Lausanne). 2024 Nov 21;11:1422163. doi: 10.3389/fmed.2024.1422163. eCollection 2024. Front Med (Lausanne). 2024. PMID: 39640978 Free PMC article.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C. Garcia-Pelaez J, et al. Among authors: genuardi m. Lancet Oncol. 2023 Jan;24(1):91-106. doi: 10.1016/S1470-2045(22)00643-X. Epub 2022 Nov 24. Lancet Oncol. 2023. PMID: 36436516 Free PMC article.
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'.
Forzano F, Antonova O, Clarke A, de Wert G, Hentze S, Jamshidi Y, Moreau Y, Perola M, Prokopenko I, Read A, Reymond A, Stefansdottir V, van El C, Genuardi M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics. Forzano F, et al. Among authors: genuardi m. Eur J Hum Genet. 2023 Mar;31(3):279-281. doi: 10.1038/s41431-022-01241-4. Epub 2022 Dec 1. Eur J Hum Genet. 2023. PMID: 36450798 Free PMC article. No abstract available.
Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'.
Forzano F, Antonova O, Clarke A, de Wert G, Hentze S, Jamshidi Y, Moreau Y, Perola M, Prokopenko I, Read A, Reymond A, Stefansdottir V, van El C, Genuardi M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics. Forzano F, et al. Among authors: genuardi m. Eur J Hum Genet. 2023 Mar;31(3):368. doi: 10.1038/s41431-022-01263-y. Eur J Hum Genet. 2023. PMID: 36536147 Free PMC article. No abstract available.
Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2.
Fabi A, Cortesi L, Duranti S, Cordisco EL, Di Leone A, Terribile D, Paris I, de Belvis AG, Orlandi A, Marazzi F, Muratore M, Garganese G, Fuso P, Paoletti F, Dell'Aquila R, Minucci A, Scambia G, Franceschini G, Masetti R, Genuardi M. Fabi A, et al. Among authors: genuardi m. Crit Rev Oncol Hematol. 2024 Sep;201:104431. doi: 10.1016/j.critrevonc.2024.104431. Epub 2024 Jul 6. Crit Rev Oncol Hematol. 2024. PMID: 38977141 Review.
306 results