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Items: 14

1.

Minor pulmonary malformations in a child.

Manti S, Parisi GF, Tardino L, Cutrupi M, Salpietro C, Cuppari C, Sacco O, Leonardi S.

Breathe (Sheff). 2018 Jun;14(2):e43-e47. doi: 10.1183/20734735.014618.

2.

Neuroinflammation in Autism Spectrum Disorders: Role of High Mobility Group Box 1 Protein.

Dipasquale V, Cutrupi MC, Colavita L, Manti S, Cuppari C, Salpietro C.

Int J Mol Cell Med. 2017 Summer;6(3):148-155. doi: 10.22088/acadpub.BUMS.6.3.148. Epub 2017 Sep 26. Review.

3.

Lack of clear and univocal genotype-phenotype correlation in familial Mediterranean fever patients: A systematic review.

Gangemi S, Manti S, Procopio V, Casciaro M, Di Salvo E, Cutrupi M, Ganci G, Salpietro C, Chimenz R, Cuppari C.

Clin Genet. 2018 Jul;94(1):81-94. doi: 10.1111/cge.13223. Epub 2018 Mar 9. Review.

PMID:
29393966
4.

Inflammatory biomarkers and intellectual disability in patients with Down syndrome.

Manti S, Cutrupi MC, Cuppari C, Ferro E, Dipasquale V, Di Rosa G, Chimenz R, La Rosa MA, Valenti A, Salpietro V.

J Intellect Disabil Res. 2018 May;62(5):382-390. doi: 10.1111/jir.12470. Epub 2018 Jan 19.

PMID:
29349839
5.

Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex.

D'Angelo G, Marseglia L, Aversa S, Manti S, Cuppari C, Cutrupi M, Salpietro C, Gitto E.

Case Rep Pediatr. 2017;2017:4396142. doi: 10.1155/2017/4396142. Epub 2017 Sep 12.

6.

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

Salpietro V, Efthymiou S, Manole A, Maurya B, Wiethoff S, Ashokkumar B, Cutrupi MC, Dipasquale V, Manti S, Botia JA, Ryten M, Vandrovcova J, Bello OD, Bettencourt C, Mankad K, Mukherjee A, Mutsuddi M, Houlden H.

Hum Mutat. 2018 Feb;39(2):187-192. doi: 10.1002/humu.23368. Epub 2017 Nov 27.

7.

Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance?

Procopio V, Manti S, Bianco G, Conti G, Romeo A, Maimone F, Arrigo T, Cutrupi MC, Salpietro C, Cuppari C.

Gene. 2018 Jan 30;641:279-286. doi: 10.1016/j.gene.2017.10.068. Epub 2017 Nov 6.

PMID:
29080837
8.

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.

Eur J Paediatr Neurol. 2016 May;20(3):483-8. doi: 10.1016/j.ejpn.2015.12.016. Epub 2016 Jan 11.

PMID:
26805434
9.

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.

Orphanet J Rare Dis. 2016 Jan 13;11:3. doi: 10.1186/s13023-015-0381-z.

10.

Thalassaemia major and infectious risk: High Mobility Group Box-1 represents a novel diagnostic and prognostic biomarker.

Chirico V, Lacquaniti A, Piraino B, Cutrupi M, Cuppari C, Grasso L, Rigoli L, David A, Arrigo T, Salpietro C.

Br J Haematol. 2015 Oct;171(1):130-6. doi: 10.1111/bjh.13530. Epub 2015 Jun 8.

PMID:
26058743
11.

Autoimmune liver disease in Noonan Syndrome.

Loddo I, Romano C, Cutrupi MC, Sciveres M, Riva S, Salpietro A, FerraĆ¹ V, Gallizzi R, Briuglia S.

Eur J Med Genet. 2015 Mar;58(3):188-90. doi: 10.1016/j.ejmg.2014.12.013. Epub 2015 Jan 13.

PMID:
25595571
12.

Genetic basis of non syndromic hypodontia: a DNA investigation performed on three couples of monozygotic twins about PAX9 mutation.

Militi D, Militi A, Cutrupi MC, Portelli M, Rigoli L, Matarese G, Salpietro DC.

Eur J Paediatr Dent. 2011 Mar;12(1):21-4.

PMID:
21434731
13.

Kabuki syndrome and cancer in two patients.

Tumino M, Licciardello M, Sorge G, Cutrupi MC, Di Benedetto F, Amoroso L, Catania R, Pennisi M, D'Amico S, Di Cataldo A.

Am J Med Genet A. 2010 Jun;152A(6):1536-9. doi: 10.1002/ajmg.a.33405.

PMID:
20503331
14.

Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia.

Salpietro CD, Briuglia S, Cutrupi MC, Gallizzi R, Rigoli L, Dallapiccola B.

Am J Med Genet A. 2009 Oct;149A(10):2270-3. doi: 10.1002/ajmg.a.33017.

PMID:
19764024

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