Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

71 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Endocrine system involvement in patients with RASopathies: A case series.
Siano MA, Pivonello R, Salerno M, Falco M, Mauro C, De Brasi D, Klain A, Sestito S, De Luca A, Pinna V, Simeoli C, Concolino D, Mainolfi CG, Mannarino T, Strisciuglio P, Tartaglia M, Melis D. Siano MA, et al. Among authors: de brasi d. Front Endocrinol (Lausanne). 2022 Nov 18;13:1030398. doi: 10.3389/fendo.2022.1030398. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36483002 Free PMC article.
Acromegalic axial arthropathy: a clinical case-control study.
Scarpa R, De Brasi D, Pivonello R, Marzullo P, Manguso F, Sodano A, Oriente P, Lombardi G, Colao A. Scarpa R, et al. Among authors: de brasi d. J Clin Endocrinol Metab. 2004 Feb;89(2):598-603. doi: 10.1210/jc.2003-031283. J Clin Endocrinol Metab. 2004. PMID: 14764768
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity.
Siano MA, Marchetti V, Pagano S, Di Candia F, Alessio M, De Brasi D, De Luca A, Pinna V, Sestito S, Concolino D, Tartaglia M, Strisciuglio P, D'Esposito V, Cabaro S, Perruolo G, Formisano P, Melis D. Siano MA, et al. Among authors: de brasi d, de luca a, d esposito v. Orphanet J Rare Dis. 2021 Oct 2;16(1):410. doi: 10.1186/s13023-021-02050-6. Orphanet J Rare Dis. 2021. PMID: 34600590 Free PMC article.
Flavor perception test: evaluation in patients with Kallmann syndrome.
Maione L, Cantone E, Nettore IC, Cerbone G, De Brasi D, Maione N, Young J, Di Somma C, Sinisi AA, Iengo M, Macchia PE, Pivonello R, Colao A. Maione L, et al. Among authors: de brasi d. Endocrine. 2016 May;52(2):236-43. doi: 10.1007/s12020-015-0690-y. Epub 2015 Jul 25. Endocrine. 2016. PMID: 26209039 Clinical Trial.
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry.
Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P; Campania Rare Disease Network. Limongelli G, et al. J Public Health (Oxf). 2022 Aug 25;44(3):586-594. doi: 10.1093/pubmed/fdab137. J Public Health (Oxf). 2022. PMID: 33982102 Free PMC article.
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C. Nardella G, et al. Hum Mutat. 2018 Dec;39(12):1885-1900. doi: 10.1002/humu.23629. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30161288
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L. Ciavarella M, et al. Among authors: de brasi d, d agruma l. Gene. 2013 Feb 25;515(2):339-48. doi: 10.1016/j.gene.2012.11.055. Epub 2012 Dec 20. Gene. 2013. PMID: 23262345
71 results