Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2012 1
2013 2
2014 4
2015 6
2016 2
2017 2
2018 5
2019 4
2020 4
2021 0
Text availability
Article attribute
Article type
Publication date

Search Results

26 results
Results by year
Filters applied: . Clear all
Page 1
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Baban A, Olivini N, Lepri FR, Calì F, Mucciolo M, Digilio MC, Calcagni G, di Mambro C, Dallapiccola B, Adorisio R, Novelli A, Drago F. Baban A, et al. Among authors: lepri fr. Am J Med Genet A. 2019 Oct;179(10):2083-2090. doi: 10.1002/ajmg.a.61312. Epub 2019 Aug 1. Am J Med Genet A. 2019. PMID: 31368652 Review.
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
Pinna V, Daniele P, Calcagni G, Mariniello L, Criscione R, Giardina C, Lepri FR, Hozhabri H, Alberico A, Cavone S, Morella AT, Mandile R, Annunziata F, Di Giosaffatte N, D'Asdia MC, Versacci P, Capolino R, Strisciuglio P, Giustini S, Melis D, Digilio MC, Tartaglia M, Marino B, De Luca A. Pinna V, et al. Among authors: lepri fr. Genes (Basel). 2019 Sep 4;10(9):675. doi: 10.3390/genes10090675. Genes (Basel). 2019. PMID: 31487937 Free PMC article.
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings.
Mastromoro G, Guadagnolo D, Giancotti A, Di Gregorio MG, Marchionni E, Vena F, Lepri FR, Bargiacchi L, Ventriglia F, Di Gioia C, Novelli A, Pizzuti A. Mastromoro G, et al. Among authors: lepri fr. Eur J Med Genet. 2020 Nov 20:104106. doi: 10.1016/j.ejmg.2020.104106. Online ahead of print. Eur J Med Genet. 2020. PMID: 33227434
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.
Pennisi A, Maranda B, Benoist JF, Baudouin V, Rigal O, Pichard S, Santer R, Romana Lepri F, Novelli A, Ogier de Baulny H, Dionisi-Vici C, Schiff M. Pennisi A, et al. Among authors: romana lepri f. J Inherit Metab Dis. 2020 May;43(3):540-548. doi: 10.1002/jimd.12203. Epub 2020 Jan 1. J Inherit Metab Dis. 2020. PMID: 31816104
Neurobehavioral features in individuals with Kabuki syndrome.
Caciolo C, Alfieri P, Piccini G, Digilio MC, Lepri FR, Tartaglia M, Menghini D, Vicari S. Caciolo C, et al. Among authors: lepri fr. Mol Genet Genomic Med. 2018 May;6(3):322-331. doi: 10.1002/mgg3.348. Epub 2018 Mar 13. Mol Genet Genomic Med. 2018. PMID: 29536651 Free PMC article.
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.
Lodi M, Boccuto L, Carai A, Cacchione A, Miele E, Colafati GS, Diomedi Camassei F, De Palma L, De Benedictis A, Ferretti E, Catanzaro G, Pò A, De Luca A, Rinelli M, Lepri FR, Agolini E, Tartaglia M, Locatelli F, Mastronuzzi A. Lodi M, et al. Among authors: lepri fr. Diagnostics (Basel). 2020 Aug 12;10(8):582. doi: 10.3390/diagnostics10080582. Diagnostics (Basel). 2020. PMID: 32806529 Free PMC article.
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Niceta M, Dentici ML, Ciolfi A, Marini R, Barresi S, Lepri FR, Novelli A, Bertini E, Cappa M, Digilio MC, Dallapiccola B, Tartaglia M. Niceta M, et al. Among authors: lepri fr. BMC Pediatr. 2020 Mar 12;20(1):120. doi: 10.1186/s12887-020-2019-0. BMC Pediatr. 2020. PMID: 32164589 Free PMC article.
Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.
Penta L, Bizzarri C, Panichi M, Novelli A, Lepri FR, Cappa M, Esposito S. Penta L, et al. Among authors: lepri fr. Int J Mol Sci. 2019 Apr 16;20(8):1875. doi: 10.3390/ijms20081875. Int J Mol Sci. 2019. PMID: 30988269 Free PMC article.
Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, Petrocchi S, Pisaneschi E, Bellacchio E, Capolino R, Braguglia A, Angioni A, Dotta A, Digilio MC, Dallapiccola B. Dentici ML, et al. Among authors: lepri fr. Arch Dis Child. 2015 Feb;100(2):158-64. doi: 10.1136/archdischild-2013-305858. Epub 2014 Oct 3. Arch Dis Child. 2015. PMID: 25281733 Review.
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Ferese R, Bonetti M, Consoli F, Guida V, Sarkozy A, Lepri FR, Versacci P, Gambardella S, Calcagni G, Margiotti K, Piceci Sparascio F, Hozhabri H, Mazza T, Digilio MC, Dallapiccola B, Tartaglia M, Marino B, Hertog JD, De Luca A. Ferese R, et al. Among authors: lepri fr. Hum Mutat. 2018 Oct;39(10):1428-1441. doi: 10.1002/humu.23593. Epub 2018 Jul 30. Hum Mutat. 2018. PMID: 30007050
26 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page
Feedback