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PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. Zollo M, et al. Among authors: salpietro v. Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014. Brain. 2017. PMID: 28334956 Free PMC article.
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.
Ruggieri M, Polizzi A, Salpietro V, Incorpora G, Nicita F, Pavone P, Falsaperla R, Nucifora C, Granata F, Distefano A, Padua L, Caltabiano R, Lanzafame S, Gabriele AL, Ortensi A, D'Orazi V, Panunzi A, Milone P, Mankad K, Platania N, Albanese V, Pavone V. Ruggieri M, et al. Among authors: salpietro v. Neuropediatrics. 2013 Oct;44(5):239-44. doi: 10.1055/s-0033-1343350. Epub 2013 Jun 18. Neuropediatrics. 2013. PMID: 23780384 Review.
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
Salpietro V, Ruggieri M, Mankad K, Di Rosa G, Granata F, Loddo I, Moschella E, Calabro MP, Capalbo A, Bernardini L, Novelli A, Polizzi A, Seidler DG, Arrigo T, Briuglia S. Salpietro V, et al. Am J Med Genet A. 2015 Sep;167A(9):2042-51. doi: 10.1002/ajmg.a.37118. Epub 2015 May 1. Am J Med Genet A. 2015. PMID: 25940952
Proteus syndrome: evaluation of the immunological profile.
Lougaris V, Salpietro V, Cutrupi M, Baronio M, Moratto D, Pizzino MR, Mankad K, Briuglia S, Salpietro C, Plebani A. Lougaris V, et al. Among authors: salpietro c, salpietro v. Orphanet J Rare Dis. 2016 Jan 13;11:3. doi: 10.1186/s13023-015-0381-z. Orphanet J Rare Dis. 2016. PMID: 26758562 Free PMC article.
Delineation of the movement disorders associated with FOXG1 mutations.
Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA. Papandreou A, et al. Among authors: salpietro v. Neurology. 2016 May 10;86(19):1794-800. doi: 10.1212/WNL.0000000000002585. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029630 Free PMC article.
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP. Mencacci NE, et al. Among authors: salpietro v. Am J Hum Genet. 2016 Apr 7;98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015. Am J Hum Genet. 2016. PMID: 27058447 Free PMC article.
207 results