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2. Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?

Author

Bottillo, Irene, primary, Savino, Emanuele, additional, Majore, Silvia, additional, Mulargia, Claudia, additional, Valiante, Michele, additional, Ferraris, Alessandro, additional, Rossi, Valentina, additional, Svegliati, Francesca, additional, Ciccone, Maria Pia, additional, Brusco, Francesca, additional, Grammatico, Barbara, additional, Di Giacomo, Gianluca, additional, Bargiacchi, Simone, additional, D’Angelantonio, Daniela, additional, and Grammatico, Paola, additional

Published
2022
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4. Two unrelated cases with biallelic CHEK2variants:a novel condition with constitutional chromosomal instability?

Author

Bottillo, Irene, Savino, Emanuele, Majore, Silvia, Mulargia, Claudia, Valiante, Michele, Ferraris, Alessandro, Rossi, Valentina, Svegliati, Francesca, Ciccone, Maria Pia, Brusco, Francesca, Grammatico, Barbara, Di Giacomo, Gianluca, Bargiacchi, Simone, D’Angelantonio, Daniela, and Grammatico, Paola

Abstract

Constitutional heterozygous mutations in CHEK2gene have been associated with hereditary cancer risk. To date, only a few homozygous CHEK2mutations have been reported in families with cancer susceptibility. Here, we report two unrelated individuals with a personal and familial cancer history in whom biallelic CHEK2alterations were identified. The first case resulted homozygous for the CHEK2c.793-1 G > A (p.Asp265Thrfs*10) variant, and the second one was found to be compound heterozygous for the c.1100delC (p.Thr367Metfs*15) and the c.1312 G > T (p.Asp438Tyr) variants. Multiple cytogenetic anomalies were demonstrated on peripheral lymphocytes of both patients. A literature revision showed that a single other CHEK2homozygous variant was previously associated to a constitutional randomly occurring multi-translocation karyotype from peripheral blood in humans. We hypothesize that, at least some biallelic CHEK2mutations might be associated with a novel disorder, further expanding the group of chromosome instability syndromes. Additional studies on larger cohorts are needed to confirm if chromosomal instability could represent a marker for CHEK2constitutionally mutated recessive genotypes, and to investigate the cancer risk and the occurrence of other anomalies typically observed in chromosome instability syndromes.

Published
2022
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8. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report

Author

Bottillo, Irene, primary, Castori, Marco, additional, De Bernardo, Carmelilia, additional, Fabbri, Romano, additional, Grammatico, Barbara, additional, Preziosi, Nicoletta, additional, Scassellati, Giovanna Sforzolini, additional, Silvestri, Evelina, additional, Spagnuolo, Antonella, additional, Laino, Luigi, additional, and Grammatico, Paola, additional

Published
2013
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10. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

Author

Miano, Maria Giuseppina, primary, Testa, Francesco, additional, Strazzullo, Maria, additional, Trujillo, Mariajose, additional, De Bernardo, Carmelilia, additional, Grammatico, Barbara, additional, Simonelli, Francesca, additional, Mangino, Massimo, additional, Torrente, Isabella, additional, Ruberto, Giulio, additional, Beneyto, Magdalena, additional, Antinolo, Guillermo, additional, Rinaldi, Ernesto, additional, Danesino, Cesare, additional, Ventruto, Valerio, additional, D'Urso, Michele, additional, Ayuso, Carmen, additional, Baiget, Monserrat, additional, and Ciccodicola, Alfredo, additional

Published
1999
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11. Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin

Author

Vitis, Lucia Rosaria De, primary, Tedde, Andrea, additional, Vitelli, Francesca, additional, Ammannati, Franco, additional, Mennonna, Pasquale, additional, Bono, Paolo, additional, Grammatico, Barbara, additional, Grammatico, Paola, additional, Radice, Paolo, additional, Bigozzi, Umberto, additional, Montali, Enrico, additional, and Papi, L., additional

Published
1996
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12. A deletion 3' to the PAX6 gene in familial aniridia cases.

Author

D'Elia AV, Pellizzari L, Fabbro D, Pianta A, Divizia MT, Rinaldi R, Grammatico B, Grammatico P, Arduino C, and Damante G

Subjects
Databases, Nucleic Acid, Female, Genetic Linkage, Genome, Human genetics, Humans, Male, Nerve Tissue Proteins genetics, PAX6 Transcription Factor, Pedigree, Point Mutation genetics, Reverse Transcriptase Polymerase Chain Reaction, Aniridia genetics, Eye Proteins genetics, Homeodomain Proteins genetics, Paired Box Transcription Factors genetics, Repressor Proteins genetics, Sequence Deletion
Abstract

Purpose: PAX6 mutations cause aniridia as well as other various congenital eye abnormalities. Aniridia can be due to both point mutations and chromosomal deletions/rearrangements. Therefore, a complete search for PAX6 gene alterations in aniridia subjects requires a technically complex approach involving the comprehension of fluorescence in situ hybridization (FISH) analysis. In the present study, an Italian casistic of aniridia patients has been investigated and a quantitative polymerase chain reaction (PCR) assay to detect PAX6 gene deletions was set up., Methods: Twenty-one aniridia patients were screened for point mutations (missense, nonsense, splicing-affecting, and short insertion/deletion) by using single-stranded conformational polymorphism (SSCP) and denaturing high performance liquid chromatography (dHPLC). To reveal deletions not detectable by SSCP or dHPLC, a quantitative PCR approach was set up for the PAX6 structural gene and for regions 5' and 3' to it at the level of WT1 and ELP4, respectively., Results: Point mutations were found in 7 out of 21 patients. Three out of twenty-one patients showed deletions at the level of the PAX6 structural gene. In addition, two familial cases showed an undamaged PAX6 gene but a deletion in the region 3' to it at level of the ELP4 gene. In one of the families, the presence of the deletion has been confirmed by linkage analysis of polymorphic markers., Conclusions: In our casistic, a significant fraction of familial aniridia patients appears to be caused by a 3' deletion to PAX6, suggesting that evaluation of this alteration should be included in routine procedures of aniridia patients analysis. The quantitative PCR assay described here represents a simple approach to accomplish this task.

Published
2007

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