Francesca Malvestiti
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View article: Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?
Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators? Open
View article: Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study) Open
Objectives To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. Methods Prenatal diagnostic test results obtained by Italian laboratori…
View article: Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature
Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature Open
View article: OC11.10: Diagnostic cytogenetics and cytogenomics confirmations following a cfDNA test with a high‐risk or inconclusive result
OC11.10: Diagnostic cytogenetics and cytogenomics confirmations following a cfDNA test with a high‐risk or inconclusive result Open
Retrospective analysis of diagnostic results on samples submitted to a single medical genetics laboratory for confirmatory studies after a high-risk or inconclusive cfDNA test. Samples include POCs, CVS, AF and newborn blood received from …
View article: Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA Open
View article: [Erratum] BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report
[Erratum] BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report Open
[This corrects the article DOI: 10.3892/ol.2017.7711.].
View article: BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report
BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report Open
The present case report discusses a woman affected by chronic lymphatic leukemia and breast cancer with a familial history of breast cancer; suspected to be hereditary breast and ovarian cancer (HBOC) syndrome. The patient underwent BRC…