A
Antonella Manca
Researcher at National Research Council
Publications - 67
Citations - 2359
Antonella Manca is an academic researcher from National Research Council. The author has contributed to research in topics: Melanoma & Gene. The author has an hindex of 23, co-authored 63 publications receiving 2147 citations. Previous affiliations of Antonella Manca include University of Genoa & University of Sassari.
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Journal ArticleDOI
BRAF/NRAS Mutation Frequencies Among Primary Tumors and Metastases in Patients With Melanoma
Maria Colombino,Mariaelena Capone,Amelia Lissia,Antonio Cossu,Corrado Rubino,Vincenzo De Giorgi,Daniela Massi,Ester Fonsatti,Stefania Staibano,Oscar Nappi,Elena Pagani,Milena Casula,Antonella Manca,MariaCristina Sini,Renato Franco,Gerardo Botti,Corrado Caracò,Nicola Mozzillo,Paolo A. Ascierto,Giuseppe Palmieri +19 more
TL;DR: The findings about the prevalence of BRAF/NRAS/p16CDKN2A mutations in paired tumor lesions from patients with melanoma may be useful in the management of this disease.
Journal ArticleDOI
Fragile X syndrome without CCG amplification has an FMR1 deletion.
Agi K. Gedeon,Elizabeth Baker,Hazel Robinson,Michael Partington,Gross B,Antonella Manca,Bobby S. Korn,Annemarie Poustka,S. Yu,Grant R. Sutherland +9 more
TL;DR: The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking sequences, confirming that the fragile X phenotype can exist, without amplification of theCCG repeat or cytogenetic expression of the fragileX.
Journal Article
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.
Doris Wöhrle,D Kotzot,Mark C. Hirst,Antonella Manca,Bernhard Korn,A Schmidt,G Barbi,H D Rott,Annemarie Poustka,K.E. Davies +9 more
TL;DR: Evidence is presented that a deletion including the HTF island and exons of the FMR-1 gene was detected in a fragile X-negative mentally retarded male who presented the clinical phenotype of the fragile-X syndrome.
Journal ArticleDOI
Alternative splicing in the fragile X gene FMR1
Anton Verkerk,E. de Graaff,K. De Boulle,Evan E. Eichler,D.S. Konecki,Edwin Reyniers,Antonella Manca,Annemarie Poustka,P. J. Willems,David L. Nelson,Ben A. Oostra +10 more
TL;DR: The FMR1 gene, associated with fragile X syndrome, has recently been cloned and the sequence of partial cDNA clones is known, and additional cDNA sequences both at the 5' and 3' end are determined.
Journal ArticleDOI
A strategy for the selection of transcribed sequences in the Xq28 region
Bernhard Korn,Zdenek Sedlacek,Antonella Manca,Petra Kioschis,David Konecki,Hans Lehrach,Annemarie Poustka +6 more
TL;DR: A protocol allowing the rapid isolation of transcripts defined by overlapping clone libraries, based on the hybridisation of cDNA inserts, resulted in the identification of 81 cDNA clones, of which 54 clones were mapped back to the cosmid contigs.