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The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes.
Ali SR, Bryce J, Tan LE, Hiort O, Pereira AM, van den Akker ELT, Appelman-Dijkstra NM, Bertherat J, Cools M, Dekkers OM, Kodra Y, Persani L, Smyth A, Smythe C, Taruscio D, Ahmed SF. Ali SR, et al. Among authors: persani l. Int J Environ Res Public Health. 2020 Nov 25;17(23):8743. doi: 10.3390/ijerph17238743. Int J Environ Res Public Health. 2020. PMID: 33255540 Free PMC article. Review.
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ. Sun Y, et al. Among authors: persani l. Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143598 Free PMC article.
The IGSF1 deficiency syndrome: characteristics of male and female patients.
Joustra SD, Schoenmakers N, Persani L, Campi I, Bonomi M, Radetti G, Beck-Peccoz P, Zhu H, Davis TM, Sun Y, Corssmit EP, Appelman-Dijkstra NM, Heinen CA, Pereira AM, Varewijck AJ, Janssen JA, Endert E, Hennekam RC, Lombardi MP, Mannens MM, Bak B, Bernard DJ, Breuning MH, Chatterjee K, Dattani MT, Oostdijk W, Biermasz NR, Wit JM, van Trotsenburg AS. Joustra SD, et al. Among authors: persani l. J Clin Endocrinol Metab. 2013 Dec;98(12):4942-52. doi: 10.1210/jc.2013-2743. Epub 2013 Oct 9. J Clin Endocrinol Metab. 2013. PMID: 24108313
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
COST Action BM1105; Badiu C, Bonomi M, Borshchevsky I, Cools M, Craen M, Ghervan C, Hauschild M, Hershkovitz E, Hrabovszky E, Juul A, Kim SH, Kumanov P, Lecumberri B, Lemos MC, Neocleous V, Niedziela M, Djurdjevic SP, Persani L, Phan-Hug F, Pignatelli D, Pitteloud N, Popovic V, Quinton R, Skordis N, Smith N, Stefanija MA, Xu C, Young J, Dwyer AA. COST Action BM1105, et al. Among authors: persani l. Orphanet J Rare Dis. 2017 Mar 20;12(1):57. doi: 10.1186/s13023-017-0608-2. Orphanet J Rare Dis. 2017. PMID: 28320476 Free PMC article.
The current landscape of European registries for rare endocrine conditions.
Ali SR, Bryce J, Cools M, Korbonits M, Beun JG, Taruscio D, Danne T, Dattani M, Dekkers OM, Linglart A, Netchine I, Nordenstrom A, Patocs A, Persani L, Reisch N, Smyth A, Sumnik Z, Visser WE, Hiort O, Pereira AM, Ahmed SF. Ali SR, et al. Among authors: persani l. Eur J Endocrinol. 2019 Jan 1;180(1):89-98. doi: 10.1530/EJE-18-0861. Eur J Endocrinol. 2019. PMID: 30407922 Free PMC article.
Addressing gaps in care of people with conditions affecting sex development and maturation.
Hiort O, Cools M, Springer A, McElreavey K, Greenfield A, Wudy SA, Kulle A, Ahmed SF, Dessens A, Balsamo A, Maghnie M, Bonomi M, Dattani M, Persani L, Audi L; COST Actions DSDnet and GnRH Network as well as the European Reference Network for Rare Endocrine Conditions (Endo–ERN). Hiort O, et al. Among authors: persani l. Nat Rev Endocrinol. 2019 Oct;15(10):615-622. doi: 10.1038/s41574-019-0238-y. Epub 2019 Aug 12. Nat Rev Endocrinol. 2019. PMID: 31406344 Free article. Review.
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O; European Reference Network on Rare Endocrine Conditions (ENDO-ERN. Eggermann T, et al. Orphanet J Rare Dis. 2020 Jun 8;15(1):144. doi: 10.1186/s13023-020-01420-w. Orphanet J Rare Dis. 2020. PMID: 32513286 Free PMC article. Review.
Current clinical practice for thromboprophylaxis management in patients with Cushing's syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN).
van Haalen FM, Kaya M, Pelsma ICM, Dekkers OM, Biermasz NR, Cannegieter SC, Huisman MV, van Vlijmen BJM, Feelders RA, Klok FA, Pereira AM; Endo-ERN Cushing and Thrombosis study group. van Haalen FM, et al. Orphanet J Rare Dis. 2022 May 3;17(1):178. doi: 10.1186/s13023-022-02320-x. Orphanet J Rare Dis. 2022. PMID: 35505430 Free PMC article.
385 results