Buoncompagni A - Search Results

1

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD. Volpi S, et al. Among authors: buoncompagni a. J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1. J Exp Med. 2017. PMID: 28148688 Free PMC article.

2

Osteolytic lesion in PAPA syndrome responding to anti-interleukin 1 treatment.

Caorsi R, Picco P, Buoncompagni A, Martini A, Gattorno M. Caorsi R, et al. Among authors: buoncompagni a. J Rheumatol. 2014 Nov;41(11):2333-4. doi: 10.3899/jrheum.140060. J Rheumatol. 2014. PMID: 25362725 No abstract available.

3

Osteopetrorickets: case report.

Di Rocco M, Buoncompagni A, Loy A, Dellacqua A. Di Rocco M, et al. Among authors: buoncompagni a. Eur J Pediatr. 2000 Aug;159(8):579-81. doi: 10.1007/s004310000485. Eur J Pediatr. 2000. PMID: 10968234

4

Neonatal lupus and a seronegative mother.

Gattorno M, Di Rocco M, Buoncompagni A, Picco P, Meroni PL, Martini A. Gattorno M, et al. Among authors: buoncompagni a. Lancet. 2004 Mar 27;363(9414):1038. doi: 10.1016/S0140-6736(04)15839-X. Lancet. 2004. PMID: 15051284 No abstract available.

5

Cytomegalovirus-related necrotising vasculitis mimicking Henoch-Schönlein syndrome.

D'Alessandro M, Buoncompagni A, Minoia F, Coccia MC, Martini A, Picco P. D'Alessandro M, et al. Among authors: buoncompagni a. Clin Exp Rheumatol. 2014 May-Jun;32(3 Suppl 82):S73-5. Epub 2014 May 16. Clin Exp Rheumatol. 2014. PMID: 24854375

6

Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?

Di Rocco M, Picco P, Arslanian A, Restagno G, Perfumo F, Buoncompagni A, Gattorno M, Borrone C. Di Rocco M, et al. Among authors: buoncompagni a. Am J Med Genet. 1997 Nov 28;73(1):1-4. doi: 10.1002/(sici)1096-8628(19971128)73:1<1::aid-ajmg1>3.0.co;2-y. Am J Med Genet. 1997. PMID: 9375913

7

Recurrent pericarditis in Myhre syndrome.

Picco P, Naselli A, Pala G, Marsciani A, Buoncompagni A, Martini A. Picco P, et al. Among authors: buoncompagni a. Am J Med Genet A. 2013 May;161A(5):1164-6. doi: 10.1002/ajmg.a.35892. Am J Med Genet A. 2013. PMID: 23610053

8

Levels of soluble CD27 in sera and synovial fluid and its expression on memory T cells in patients with juvenile idiopathic arthritides.

Gattorno M, Prigione I, Vignola S, Falcini F, Chiesa S, Morandi F, Picco P, Buoncompagni A, Martini A, Pistoia V. Gattorno M, et al. Among authors: buoncompagni a. Clin Exp Rheumatol. 2002 Nov-Dec;20(6):863-6. Clin Exp Rheumatol. 2002. PMID: 12508783

9

Unilateral destructive wrist synovitis in juvenile idiopathic arthritis.

Cassone R, Falcone A, Rossi F, Magni-Manzoni S, Felici E, Buoncompagni A, Martini A, Ravelli A. Cassone R, et al. Among authors: buoncompagni a. Clin Exp Rheumatol. 2004 Sep-Oct;22(5):637-42. Clin Exp Rheumatol. 2004. PMID: 15485021

10

Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs.

Di Rocco M, Buoncompagni A, Gattorno M, Picco P, Vignola S, Borrone C. Di Rocco M, et al. Among authors: buoncompagni a. J Inherit Metab Dis. 1998 Aug;21(6):675-6. doi: 10.1023/a:1005440802688. J Inherit Metab Dis. 1998. PMID: 9762605 No abstract available.

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