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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: mankad k. Neuropediatrics. 2013 Oct;44(5):239-44. doi: 10.1055/s-0033-1343350. Epub 2013 Jun 18. Neuropediatrics. 2013. PMID: 23780384 Review.
Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study.
Salpietro V, Mankad K, Kinali M, Adams A, Valenzise M, Tortorella G, Gitto E, Polizzi A, Chirico V, Nicita F, David E, Romeo AC, Squeri CA, Savasta S, Marseglia GL, Arrigo T, Johanson CE, Ruggieri M. Salpietro V, et al. Among authors: mankad k. J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):107-15. doi: 10.1515/jpem-2013-0156. J Pediatr Endocrinol Metab. 2014. PMID: 24025722
Zellweger syndrome and secondary mitochondrial myopathy.
Salpietro V, Phadke R, Saggar A, Hargreaves IP, Yates R, Fokoloros C, Mankad K, Hertecant J, Ruggieri M, McCormick D, Kinali M. Salpietro V, et al. Among authors: mankad k. Eur J Pediatr. 2015 Apr;174(4):557-63. doi: 10.1007/s00431-014-2431-2. Epub 2014 Oct 7. Eur J Pediatr. 2015. PMID: 25287621 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. Among authors: mankad k. 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: mankad k. 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.
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.
Pavlidou E, Salpietro V, Phadke R, Hargreaves IP, Batten L, McElreavy K, Pitt M, Mankad K, Wilson C, Cutrupi MC, Ruggieri M, McCormick D, Saggar A, Kinali M. Pavlidou E, et al. Among authors: mankad k. Eur J Paediatr Neurol. 2016 May;20(3):483-8. doi: 10.1016/j.ejpn.2015.12.016. Epub 2016 Jan 11. Eur J Paediatr Neurol. 2016. PMID: 26805434
Mixed vascular nevus syndrome: a report of four new cases and a literature review.
Ruggieri M, Polizzi A, Strano S, Schepis C, Morano M, Belfiore G, Palmucci S, Foti PV, Pirrone C, Sofia V, David E, Salpietro V, Mankad K, Milone P. Ruggieri M, et al. Among authors: mankad k. Quant Imaging Med Surg. 2016 Oct;6(5):515-524. doi: 10.21037/qims.2016.10.09. Quant Imaging Med Surg. 2016. PMID: 27942471 Free PMC article.
275 results