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Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Grandone A, Onore ME, Melone MAB, Straccia G, Melis D, Piccolo V, Limongelli G, Buono S, Perrotta S, Nigro V, Piluso G. Giugliano T, et al. Among authors: limongelli g. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman.
Limongelli G, Pacileo G, Melis D, Calabro' P, Digilio MC, Sarkozy A, Maddaloni V, Capozzi G, Sebastio G, Andria G, Calabro' R. Limongelli G, et al. Am J Med Genet A. 2008 Feb 1;146A(3):327-9. doi: 10.1002/ajmg.a.32149. Am J Med Genet A. 2008. PMID: 18203191 No abstract available.
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
Santoro C, Pacileo G, Limongelli G, Scianguetta S, Giugliano T, Piluso G, Ragione FD, Cirillo M, Mirone G, Perrotta S. Santoro C, et al. Among authors: limongelli g. BMC Med Genet. 2014 Apr 26;15:44. doi: 10.1186/1471-2350-15-44. BMC Med Genet. 2014. PMID: 24767283 Free PMC article.
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
Alagia M, Cappuccio G, Pinelli M, Torella A, Brunetti-Pierri R, Simonelli F, Limongelli G, Oppido G, Nigro V, Brunetti-Pierri N; TUDP. Alagia M, et al. Among authors: limongelli g. Am J Med Genet A. 2018 Feb;176(2):426-430. doi: 10.1002/ajmg.a.38560. Epub 2017 Dec 12. Am J Med Genet A. 2018. PMID: 29230941 Free PMC article.
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: limongelli g. 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.
Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome.
Monda E, Fusco A, Melis D, Caiazza M, Gragnano F, Mauriello A, Cirillo A, Rubino M, Esposito A, Grammegna A, Nistri S, Pepe G, Calabrò P, Strisciuglio P, Della Corte A, Oppido G, Russo M, Limongelli G. Monda E, et al. Among authors: limongelli g. Cardiol Young. 2020 May;30(5):663-667. doi: 10.1017/S1047951120000748. Epub 2020 Apr 15. Cardiol Young. 2020. PMID: 32290873
A pilot clinical trial with losartan in Myhre syndrome.
Cappuccio G, Caiazza M, Roca A, Melis D, Iuliano A, Matyas G, Rubino M, Limongelli G, Brunetti-Pierri N. Cappuccio G, et al. Among authors: limongelli g. Am J Med Genet A. 2021 Mar;185(3):702-709. doi: 10.1002/ajmg.a.62019. Epub 2020 Dec 24. Am J Med Genet A. 2021. PMID: 33369056 Free PMC article. Clinical Trial.
Novel autophagic vacuolar myopathies: Phenotype and genotype features.
Napolitano F, Terracciano C, Bruno G, De Blasiis P, Lombardi L, Gialluisi A, Gianfrancesco F, De Giovanni D, Tummolo A, Di Iorio G, Limongelli G, Esposito T, Melone MAB, Sampaolo S. Napolitano F, et al. Among authors: limongelli g. Neuropathol Appl Neurobiol. 2021 Aug;47(5):664-678. doi: 10.1111/nan.12690. Epub 2021 Feb 1. Neuropathol Appl Neurobiol. 2021. PMID: 33393119
420 results