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A. Tomaiuolo · SciRah

Researcher profile · Semantic Scholar

A. Tomaiuolo

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A. Tomaiuolo — researcher profile on SciRah

h-index: 6
Works: 17
Citations: 134

Most-cited papers

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma
Simona Grotta, G. D'Elia, Rossana Scavelli, S. Genovese +13 more
2015BMC Cancer30 citations Open access
Semantic Scholar
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis
V. Sofia, C. Surace, V. Terlizzi, L. Da Sacco +17 more
2018Molecular Medicine28 citations Open access
Semantic Scholar
Extensive Molecular Analysis Suggested the Strong Genetic Heterogeneity of Idiopathic Chronic Pancreatitis
V. Sofia, L. Da Sacco, C. Surace, A. Tomaiuolo +12 more
2016Molecular Medicine28 citations Open access
Semantic Scholar
Lyonization Effects of the t(X;16) Translocation on the Phenotypic Expression in a Rare Female With Menkes Disease
P. Sirleto, C. Surace, H. Santos, E. Bertini +6 more
2009Pediatric Research20 citations
Semantic Scholar
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome
M. C. Roberti, C. Surace, M. Digilio, G. D'Elia +6 more
2011Orphanet Journal of Rare Diseases12 citations Open access
Semantic Scholar
Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitis.
A. Tomaiuolo, V. Sofia, C. Surace, F. Majo +6 more
2015Journal of Molecular Diagnostics8 citations Open access
Semantic Scholar
Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability.
F. Alghisi, S. Bella, V. Lucidi, A. Angioni +4 more
2009Pancreas4 citations
Semantic Scholar
Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation.
A. Tomaiuolo, F. Alghisi, S. Petrocchi, C. Surace +4 more
2010Clinical and investigative medicine. Medecine clinique et experimentale3 citations Open access
Semantic Scholar
Functional Characterization of Bifidobacteria of Human Origin: A Case Study by the Students of Food Science and Technology of the University of Foggia (Southern Italy)
Emanuela Ciuffreda, A. Veronica, A. Cifelli, R. Foti +11 more
20141 citations Open access
Semantic Scholar
Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.
A. Tomaiuolo, P. Sirleto, C. Centrone, C. Surace +7 more
2011Clinical Biochemistry1 citations
Semantic Scholar
A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis
Piera Bontempo, C. Surace, Lucia Menale, Claudia Alicata +5 more
2024Biomedicines0 citations Open access
Semantic Scholar
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis
V. Sofia, C. Surace, V. Terlizzi, L. Da Sacco +17 more
2018Molecular Medicine0 citations Open access
Semantic Scholar
The utility of next generation sequencing in the study of chronic pancreatitis in children
V. Sofia, F. Majo, Letizia Dasacco, C. Surace +4 more
20140 citations
Semantic Scholar
RECURRENT PANCREATITIS AS THE FIRST MANIFESTATION OF CYSTIC FIBROSIS: A SINGLE CENTRE EXPERIENCE
V. Lucidi, F. Alghisi, A. Angioni, A. Tomaiuolo +7 more
20080 citations Open access
Semantic Scholar
PHENOTYPIC VARIABILITY IN A FAMILY WITH PANCREATITIS AND CYSTIC FIBROSIS SHARING COMMON MILD CFTR MUTATION
V. Lucidi, F. Alghisi, A. Angioni, A. Tomaiuolo +6 more
20080 citations Open access
Semantic Scholar
DIAGNOSIS IN ATYPICAL CF: A CASE-REPORT TO LEARN
V. Lucidi, F. Alghisi, A. Angioni, A. Tomaiuolo +5 more
20080 citations Open access
Semantic Scholar
[Experimental infection of domestic rabbit (Oryctolagus cuniculus) by Trichinella sp. n. 3]. [Italian]
L. Casarosa, M. Magi, C. Ercolini, A. Focacci +2 more
19900 citations
Semantic Scholar

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