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List of Publications via PubMed
(NIH National Library of Medicine)
List of Publications via PubMed
(NIH National Library of Medicine)
Research authored by Dr. Fazio
| Dr. Fazio's research |
A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple
osteochondromas patients.
To read the abstract and full text link from this research paper
Signori E, Massi E, Matera MG, Poscente M, Gravina C, Falcone G, Rosa MA, Rinaldi M, Wuyts W, Seripa D, Dallapiccola B, Fazio
VM.
Laboratory of Molecular Medicine and Biotechnology, University Campus Bio-Medico School of Medicine and Institute of
Neurobiology and Molecular Medicine, CNR, Rome, Italy. e.signori@unicampus.it
Multiple osteochondromas (MO), also known as hereditary multiple exostoses (HME), is one of the most common hereditary
musculoskeletal diseases in Caucasians (1/50,000) with wide clinical variability and genetic heterogeneity. Two genes have thus
far been identified as causing the disease, namely EXT1 and EXT2. Various methods to detect mutations in the EXT genes have
been used.
Here a cohort of 100 MO patients belonging to unrelated Italian families have been analyzed by single-strand conformation
polymorphism (SSCP) analysis or by denaturing high performance liquid chromatography (DHPLC). However, neither of these
techniques can detect deletions or duplications of entire exons. Families that were negative at SSCP/DHPLC analysis underwent
two-color multiple ligation-dependent probe amplification (MLPA) analysis.
By these complementary techniques mutation detection was significantly improved and 26 novel mutations have been revealed
as well as 18 previously described mutations to give a total of 44 different mutations.
Thus we can conclude that combining MLPA with DHPLC in point-mutations negative MO families, the detection of mutations in
EXT genes can significantly improve the identification of both point-mutations and mid-size rearrangements. More important, we
were able to characterize all those patients who were negative at the first PCR-based method screening.
osteochondromas patients.
To read the abstract and full text link from this research paper
Signori E, Massi E, Matera MG, Poscente M, Gravina C, Falcone G, Rosa MA, Rinaldi M, Wuyts W, Seripa D, Dallapiccola B, Fazio
VM.
Laboratory of Molecular Medicine and Biotechnology, University Campus Bio-Medico School of Medicine and Institute of
Neurobiology and Molecular Medicine, CNR, Rome, Italy. e.signori@unicampus.it
Multiple osteochondromas (MO), also known as hereditary multiple exostoses (HME), is one of the most common hereditary
musculoskeletal diseases in Caucasians (1/50,000) with wide clinical variability and genetic heterogeneity. Two genes have thus
far been identified as causing the disease, namely EXT1 and EXT2. Various methods to detect mutations in the EXT genes have
been used.
Here a cohort of 100 MO patients belonging to unrelated Italian families have been analyzed by single-strand conformation
polymorphism (SSCP) analysis or by denaturing high performance liquid chromatography (DHPLC). However, neither of these
techniques can detect deletions or duplications of entire exons. Families that were negative at SSCP/DHPLC analysis underwent
two-color multiple ligation-dependent probe amplification (MLPA) analysis.
By these complementary techniques mutation detection was significantly improved and 26 novel mutations have been revealed
as well as 18 previously described mutations to give a total of 44 different mutations.
Thus we can conclude that combining MLPA with DHPLC in point-mutations negative MO families, the detection of mutations in
EXT genes can significantly improve the identification of both point-mutations and mid-size rearrangements. More important, we
were able to characterize all those patients who were negative at the first PCR-based method screening.
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here to verify.# HON Conduct 282463 and is linked on the NIH National Library of Medicine, Directory of Health Organizations (SIS) website, as well as
the link for Patient Information on The Diseases Database a cross-referenced index of human disease, and the Intute: health & life sciences a free
online service providing access to the very best Web resources for education and research located in the UK
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studying the pathology and genetics of bone tumors.
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