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

169 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Wood KA, Tong RS, Motta M, Cordeddu V, Scimone ER, Bush SJ, Maxwell DW, Giannoulatou E, Caputo V, Traversa A, Mancini C, Ferrero GB, Benedicenti F, Grammatico P, Melis D, Steindl K, Brunetti-Pierri N, Trevisson E, Wilkie AO, Lin AE, Cormier-Daire V, Twigg SR, Tartaglia M, Goriely A. Wood KA, et al. Among authors: melis d. Am J Hum Genet. 2024 Sep 5;111(9):1953-1969. doi: 10.1016/j.ajhg.2024.07.006. Epub 2024 Aug 7. Am J Hum Genet. 2024. PMID: 39116879 Free PMC article.
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.
Priolo M, Zara E, Radio FC, Ciolfi A, Spadaro F, Bellacchio E, Mancini C, Pantaleoni F, Cordeddu V, Chiriatti L, Niceta M, Africa E, Mammì C, Melis D, Coppola S, Tartaglia M. Priolo M, et al. Among authors: melis d. Eur J Hum Genet. 2023 Jul;31(7):805-814. doi: 10.1038/s41431-023-01351-7. Epub 2023 Apr 14. Eur J Hum Genet. 2023. PMID: 37059841 Free PMC article. Review.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Mitral Transcatheter Edge-to-Edge Repair in INTERMACS 3-4 Profile Patients with Severe Mitral Regurgitation.
Frea S, Pidello S, Angelini F, Boretto P, Bocchino PP, Melis D, Giannino G, Cavallone E, Giordana F, Rettegno S, Gravinese C, De Lio G, Gallone G, Dusi V, Alunni G, Montefusco A, D'Ascenzo F, Boffini M, Raineri C, Rinaldi M, De Ferrari GM. Frea S, et al. Among authors: melis d. J Cardiovasc Dev Dis. 2024 Nov 19;11(11):373. doi: 10.3390/jcdd11110373. J Cardiovasc Dev Dis. 2024. PMID: 39590216 Free PMC article.
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: melis d. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).
Rossini L, Ricci S, Montin D, Azzari C, Gambineri E, Tellini M, Conti F, Pession A, Saettini F, Naviglio S, Valencic E, Magnolato A, Baselli L, Azzolini S, Consolini R, Leonardi L, D'Alba I, Carraro E, Romano R, Melis D, Stagi S, Cirillo E, Giardino G, Biffi A, Pignata C, Putti MC, Marzollo A. Rossini L, et al. Among authors: melis d. J Clin Immunol. 2024 Apr 27;44(5):105. doi: 10.1007/s10875-024-01676-y. J Clin Immunol. 2024. PMID: 38676773
Gender differences in the development of heart failure after acute coronary syndrome: Insight from the CORALYS registry.
Elia E, Bruno F, Crimi G, Wańha W, Leonardi S, Mauro M, Raposeiras Roubin S, Fabris E, Giannino G, Mancone M, Severino P, Truffa A, De Filippo O, Huczek Z, Mazurek M, Gaibazzi N, Ielasi A, Cortese B, Borin A, Núñez-Gil IJ, Marengo G, Melis D, Ugo F, Bianco M, Barbieri L, Marchini F, Desperak P, Morici N, Scaglione M, Gąsior M, Gallone G, Lopiano C, Stefanini G, Campo G, Wojakowski W, Abu-Assi E, Sinagra G, de Ferrari GM, Porto I, D'Ascenzo F. Elia E, et al. Among authors: melis d. Int J Cardiol. 2024 Feb 15;397:131622. doi: 10.1016/j.ijcard.2023.131622. Epub 2023 Dec 6. Int J Cardiol. 2024. PMID: 38061607
169 results