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C BORRONE

Explore the profile of C BORRONE including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 151
Citations 1353
Followers 0
Related Specialties
Pediatrics
Genetics
General Medicine
Top 10 Co-Authors
P Durand
M Di Rocco
P Picco
R Gatti
L Massimo
A G Marchi
A Buoncompagni
P Cerruti Mainardi
G DELLA CELLA
G Cordone
Published In
Minerva Pediatr
Eur J Pediatr
J Inherit Metab Dis
Pathologica
Helv Paediatr Acta
Affiliations
Soon will be listed here.
Recent Articles
1.
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
Gong Y, Slee R, Fukai N, Rawadi G, Roman-Roman S, Reginato A, et al.
Cell . 2001 Nov; 107(4):513-23. PMID: 11719191
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth....
2.
Interactions between prolactin and the proinflammatory cytokine network in juvenile chronic arthritis
Picco P, Gattorno M, Buoncompagni A, Vignola S, Maggiani M, Rossi G, et al.
Ann N Y Acad Sci . 1999 Jul; 876:262-5. PMID: 10415619
No abstract available.
3.
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease
Di Rocco M, Caruso U, Moroni I, Lupino S, Lamantea E, Fantasia A, et al.
J Inherit Metab Dis . 1999 Jul; 22(5):593-8. PMID: 10399091
We report on a child with a clinical and neuroradiological picture consistent with Leigh disease and an unusual association of isolated hypermethioninaemia and 3-methylglutaconic aciduria. A low-methionine diet normalized both...
4.
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity
Colella S, Nardo T, Mallery D, BORRONE C, Ricci R, Ruffa G, et al.
Hum Mol Genet . 1999 Apr; 8(5):935-41. PMID: 10196384
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by postnatal growth failure, mental retardation and otherwise clinically heterogeneous features which commonly include cutaneous photosensitivity. Cultured cells from sun-sensitive...
5.
Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome
Di Rocco M, ARSLANIAN A, Romanengo M, Dagna-Bricarelli F, BORRONE C
J Med Genet . 1999 Mar; 36(2):159-60. PMID: 10051019
An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. Microcephaly, severe growth deficiency, and...
6.
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
Seri M, Cusano R, Forabosco P, Cinti R, Caroli F, Picco P, et al.
Am J Hum Genet . 1999 Feb; 64(2):586-93. PMID: 9973297
We have recently observed a large pedigree with a new rare autosomal dominant spastic paraparesis. In three subsequent generations, 13 affected individuals presented with bilateral cataracts, gastroesophageal reflux with persistent...
7.
Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs
Di Rocco M, Buoncompagni A, Gattorno M, Picco P, Vignola S, BORRONE C, et al.
J Inherit Metab Dis . 1998 Oct; 21(6):675-6. PMID: 9762605
No abstract available.
8.
Cutaneous leishmaniasis in a 6-month-old girl
Di Rocco M, Vignola S, BORRONE C, Rampini P, Occella C, Gambini C
J Pediatr . 1998 May; 132(4):748. PMID: 9606112
No abstract available.
9.
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions
Di Rocco M, Buocompagni A, Picco P, Vignola S, BORRONE C, Gimelli G
J Med Genet . 1998 May; 35(4):346; author reply 347. PMID: 9598737
No abstract available.
10.
Differences in tumor necrosis factor-alpha soluble receptor serum concentrations between patients with Henoch-Schönlein purpura and pediatric systemic lupus erythematosus: pathogenetic implications
Gattorno M, Picco P, Barbano G, Stalla F, Sormani M, Buoncompagni A, et al.
J Rheumatol . 1998 Mar; 25(2):361-5. PMID: 9489835
Objective: Animal models of immune complex mediated tissue injury have shown different patterns of proinflammatory cytokine production according to the subtype of immunoglobulin involved. The IgA immune complex model differs...