Search Results - "Buccino, Anna"

Identification of type A, B, E, and F botulinum neurotoxin genes and of botulinum neurotoxigenic clostridia by denaturing high-performance liquid chromatography by Franciosa, G, Pourshaban, M, De Luca, A, Buccino, A, Dallapiccola, B, Aureli, P

“…Denaturing high-performance liquid chromatography (DHPLC) is a recently developed technique for rapid screening of nucleotide polymorphisms in PCR products. We…”
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Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1 by Luca, Alessandro De, Schirinzi, Annalisa, Buccino, Anna, Bottillo, Irene, Sinibaldi, Lorenzo, Torrente, Isabella, Ciavarella, Angela, Dottorini, Tania, Porciello, Roberto, Giustini, Sandra, Calvieri, Stefano, Dallapiccola, Bruno

“…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…”
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NF1 gene analysis based on DHPLC by Luc, Alessandro De, Buccino, Anna, Gianni, Debora, Mangino, Massimo, Giustini, Sandra, Richetta, Antonio, Divona, Luigina, Calvieri, Stefano, Mingarelli, Rita, Dallapiccola, Bruno

“…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…”
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Association of dopamine D4 receptor (DRD4) exon III repeat polymorphism with temperament in 3-year-old infants by DE LUCA, Alessandro, RIZZARDI, Mario, BUCCINO, Anna, ALESSANDRONI, Rosina, SALVIOLI, Gian Paolo, FILOGRASSO, Nando, NOVELLI, Giuseppe, DALLAPICCOLA, Bruno

“…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…”
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Novel and recurrent mutations in theNF1 gene in Italian patients with neurofibromatosis type 1 by Luca, Alessandro De, Schirinzi, Annalisa, Buccino, Anna, Bottillo, Irene, Sinibaldi, Lorenzo, Torrente, Isabella, Ciavarella, Angela, Dottorini, Tania, Porciello, Roberto, Giustini, Sandra, Calvieri, Stefano, Dallapiccola, Bruno

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Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients by Origone, Paola, De Luca, Alessandro, Bellini, Carlo, Buccino, Anna, Mingarelli, Rita, Costabel, Simona, La Rosa, Carmen, Garrè, Cecilia, Coviello, Domenico A., Ajmar, Franco, Dallapiccola, Bruno, Bonioli, Eugenio

“…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…”
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Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC) by Flex, Elisabetta, De Luca, Alessandro, D'Apice, Maria Rosaria, Buccino, Anna, Dallapiccola, Bruno, Novelli, Giuseppe

“…X-linked myotubular myopathy (XLMTM; OMIM# 310400) is a severe congenital muscle disease caused by mutations in the myotubularin (MTM1) gene. This gene encodes…”
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Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients: MUTATIONS IN BRIEF by Origone, Paola, De Luca, Alessandro, Bellini, Carlo, Buccino, Anna, Mingarelli, Rita, Costabel, Simona, La Rosa, Carmen, Garrè, Cecilia, Coviello, Domenico A., Ajmar, Franco, Dallapiccola, Bruno, Bonioli, Eugenio

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