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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

164 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.
Assunto A, Ferrara U, De Luca A, Pivonello C, Lombardo L, Piscitelli A, Tortora C, Pinna V, Daniele P, Pivonello R, Russo MG, Limongelli G, Colao A, Tartaglia M, Strisciuglio P, Melis D. Assunto A, et al. Among authors: melis d. Orphanet J Rare Dis. 2019 Nov 15;14(1):261. doi: 10.1186/s13023-019-1223-1. Orphanet J Rare Dis. 2019. PMID: 31730495 Free PMC article.
The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b.
Melis D, Pivonello R, Parenti G, Della Casa R, Salerno M, Balivo F, Piccolo P, Di Somma C, Colao A, Andria G. Melis D, et al. J Pediatr. 2010 Apr;156(4):663-70.e1. doi: 10.1016/j.jpeds.2009.10.032. Epub 2009 Dec 21. J Pediatr. 2010. PMID: 20022338
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G. Micale L, et al. Among authors: d addetta ev, melis d. Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38. Orphanet J Rare Dis. 2011. PMID: 21658225 Free PMC article.
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.
Melis D, Pivonello R, Cozzolino M, Della Casa R, Balivo F, Del Puente A, Dionisi-Vici C, Cotugno G, Zuppaldi C, Rigoldi M, Parini R, Colao A, Andria G, Parenti G. Melis D, et al. Horm Res Paediatr. 2014;81(1):55-62. doi: 10.1159/000351022. Epub 2013 Dec 21. Horm Res Paediatr. 2014. PMID: 24401800
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.
Melis D, Rossi A, Pivonello R, Salerno M, Balivo F, Spadarella S, Muscogiuri G, Casa RD, Formisano P, Andria G, Colao A, Parenti G. Melis D, et al. Orphanet J Rare Dis. 2015 Jul 29;10:91. doi: 10.1186/s13023-015-0301-2. Orphanet J Rare Dis. 2015. PMID: 26219379 Free PMC article.
164 results