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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: paparella r. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.
Paparella R, Caroleo AM, Agolini E, Chillemi G, Miele E, Pedace L, Rinelli M, Pizzi S, Boccuto L, Colafati GS, Lodi M, Cacchione A, Carai A, Digilio MC, Tomà P, Tartaglia M, Mastronuzzi A. Paparella R, et al. Am J Med Genet A. 2022 Sep;188(9):2796-2802. doi: 10.1002/ajmg.a.62869. Epub 2022 Jun 11. Am J Med Genet A. 2022. PMID: 35689525 Free PMC article.
Autoimmune Polyendocrine Syndromes in the Pediatric Age.
Paparella R, Menghi M, Micangeli G, Leonardi L, Profeta G, Tarani F, Petrella C, Ferraguti G, Fiore M, Tarani L. Paparella R, et al. Children (Basel). 2023 Mar 19;10(3):588. doi: 10.3390/children10030588. Children (Basel). 2023. PMID: 36980146 Free PMC article. Review.
Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children-A Literature Review and Case Report.
Panvino F, Paparella R, Gambuti L, Cerrito A, Menghi M, Micangeli G, Petrella C, Fiore M, Tarani L, Ardizzone I. Panvino F, et al. Among authors: paparella r. Children (Basel). 2024 Apr 24;11(5):509. doi: 10.3390/children11050509. Children (Basel). 2024. PMID: 38790504 Free PMC article. Review.
Altered Thyroid Feedback Loop in Klinefelter Syndrome: From Infancy Through the Transition to Adulthood.
Carlomagno F, Minnetti M, Angelini F, Pofi R, Sbardella E, Spaziani M, Aureli A, Anzuini A, Paparella R, Tarani L, Porcelli T, De Stefano MA, Pozza C, Gianfrilli D, Isidori AM. Carlomagno F, et al. Among authors: paparella r. J Clin Endocrinol Metab. 2023 Oct 18;108(11):e1329-e1340. doi: 10.1210/clinem/dgad281. J Clin Endocrinol Metab. 2023. PMID: 37216911 Free PMC article.
Testicular Dysfunction in 47,XXY Boys: When It All Begins. A Semilongitudinal Study.
Pozza C, Sesti F, Tenuta M, Spaziani M, Tarantino C, Carlomagno F, Minnetti M, Pofi R, Paparella R, Lenzi A, Radicioni A, Isidori AM, Tarani L, Gianfrilli D. Pozza C, et al. Among authors: paparella r. J Clin Endocrinol Metab. 2023 Sep 18;108(10):2486-2499. doi: 10.1210/clinem/dgad205. J Clin Endocrinol Metab. 2023. PMID: 37043499 Free PMC article.
46 results