Anna Buccino
Overview
Explore the profile of Anna Buccino including associated specialties, affiliations and a list of published articles.
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6
Citations
69
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Recent Articles
1.
Franciosa G, Pourshaban M, De Luca A, Buccino A, Dallapiccola B, Aureli P
Appl Environ Microbiol
. 2004 Jul;
70(7):4170-6.
PMID: 15240298
Denaturing high-performance liquid chromatography (DHPLC) is a recently developed technique for rapid screening of nucleotide polymorphisms in PCR products. We used this technique for the identification of type A, B,...
2.
De Luca A, Schirinzi A, Buccino A, Bottillo I, Sinibaldi L, Torrente I, et al.
Hum Mutat
. 2004 May;
23(6):629.
PMID: 15146469
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans, affecting 1 in 3500 individuals. NF1 is a fully penetrant exhibiting a mutation rate some...
3.
De Luca A, Rizzardi M, Buccino A, Alessandroni R, Salvioli G, Filograsso N, et al.
Neurogenetics
. 2003 Apr;
4(4):207-12.
PMID: 12687422
The long forms of the dopamine D4 receptor (DRD4) exon III repeat polymorphism (L-DRD4) have been linked in some studies to the adult personality trait of novelty seeking (NS), as...
4.
De Luca A, Buccino A, Gianni D, Mangino M, Giustini S, Richetta A, et al.
Hum Mutat
. 2003 Jan;
21(2):171-2.
PMID: 12552569
The high mutation rate at the NF1 locus results in a wide range of molecular abnormalities. The majority of these mutations are private and rare, generating elevated allelic diversity with...
5.
Origone P, De Luca A, Bellini C, Buccino A, Mingarelli R, Costabel S, et al.
Hum Mutat
. 2002 Jul;
20(1):74-5.
PMID: 12112660
The entire NF1 coding region was analyzed for mutations in a panel of 108 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 10 mutations which have...
6.
Flex E, De Luca A, DApice M, Buccino A, Dallapiccola B, Novelli G
Neuromuscul Disord
. 2002 May;
12(5):501-5.
PMID: 12031625
X-linked myotubular myopathy (XLMTM; OMIM# 310400) is a severe congenital muscle disease caused by mutations in the myotubularin (MTM1) gene. This gene encodes for a lipid phosphatase belonging to a...