R Cusano
Overview
Explore the profile of R Cusano including associated specialties, affiliations and a list of published articles.
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Articles
37
Citations
490
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Recent Articles
1.
Grossi A, Rusmini M, Cusano R, Massidda M, Santamaria G, Napoli F, et al.
Front Genet
. 2023 Aug;
14:1031074.
PMID: 37609037
Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) is a rare, life-threatening, pediatric disorder of unknown etiology, whose diagnosis is made difficult by poor knowledge of clinical manifestation,...
2.
Origone P, Gargiulo S, Mastracci L, Ballestrero A, Battistuzzi L, Casella C, et al.
Gastric Cancer
. 2013 Jan;
16(4):596-601.
PMID: 23291969
Purpose: Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract. Most (80 %) contain activating mutations in the KIT receptor tyrosine kinase, roughly 10 % in platelet-derived growth...
3.
Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome
Gargiulo S, Torrini M, Ollila S, Nasti S, Pastorino L, Cusano R, et al.
Fam Cancer
. 2009 Sep;
8(4):547-53.
PMID: 19728162
Lynch syndrome is an inherited cancer syndrome caused by germline mutations in mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. LS predisposes to high risk of early-onset colorectal, endometrial...
4.
Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, et al.
Am J Med Genet A
. 2009 Jun;
149A(7):1539-43.
PMID: 19533801
Gorlin syndrome (GS) is inherited in an autosomal dominant pattern with high-penetrance and is characterized by a range of developmental anomalies and increased risk of developing basal cell carcinoma and...
5.
Panza E, Pippucci T, Cusano R, Lo Nigro C, Pradella L, Contardi S, et al.
Eur J Neurol
. 2008 Apr;
15(5):520-4.
PMID: 18394049
Background And Purpose: The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders, characterized by a progressive spasticity of the lower limbs. So far, 33 different loci (SPGs)...
6.
Perroni L, Faravelli F, Cusano R, Forzano F, De Cassan P, Baldo C, et al.
Prenat Diagn
. 2006 May;
26(5):487-9.
PMID: 16652396
No abstract available.
7.
Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, et al.
Child Care Health Dev
. 2005 Apr;
31(3):351-4.
PMID: 15840155
Background: Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) in infants may pose significant challenges to clinicians owing to its variable expressivity and age-related manifestations. Methods: We report two paediatric...
8.
Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, et al.
Hum Mutat
. 2005 Feb;
25(3):322-3.
PMID: 15712338
Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal Cell Carcinoma Syndrome (NBCCS,...
9.
Ghiorzo P, Pastorino L, Bonelli L, Cusano R, Nicora A, Zupo S, et al.
Ann Oncol
. 2003 Dec;
15(1):70-8.
PMID: 14679123
Background: Roughly 40% of germinal mutations in melanoma families (MF) affect p16(INK4a) and p14(ARF). We investigated the association between INK4/ARF alterations and the occurrence of pancreatic cancer in MF and...
10.
Picco P, Porfirio B, Gattorno M, Buoncompagni A, Falcini F, Cusano R, et al.
Int J Mol Med
. 2002 Oct;
10(5):575-8.
PMID: 12373294
The objective of this study was to investigate MICA (major histocompatibility complex MHC class I chain-related genes) polymorphisms in an Italian series of patients with juvenile Behcet disease (jBD) and...