Search Results - "Romitti, Lorenza"
-
1
Human Chromosome 18 and Acrocentrics: A Dangerous Liaison
Published in International journal of molecular sciences (26-05-2021)“…The presence of thousands of repetitive sequences makes the centromere a fragile region subject to breakage. In this study we collected 31 cases of…”
Get full text
Journal Article -
2
Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases
Published in International journal of molecular sciences (13-05-2020)“…Satellited non-acrocentric autosomal chromosomes (ps-qs-chromosomes) are the result of an interchange between sub- or telomeric regions of autosomes and the p…”
Get full text
Journal Article -
3
Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?
Published in HGG advances (11-04-2024)“…The largest multi-gene family in metazoans is the family of olfactory receptor (OR) genes. Human ORs are organized in clusters over most chromosomes and seem…”
Get full text
Journal Article -
4
Concomitant JAK2 V617F mutation and rare e1a2 BCR-ABL1 transcript isoform in a patient with myeloproliferative neoplasm
Published in Current problems in cancer. Case reports (01-06-2022)“…Myeloproliferative neoplasms (MPNs) are a heterogeneous group of hematologic diseases. World Health Organization classification divides MPNs into different…”
Get full text
Journal Article -
5
BCR/ABL1 fluorescence in situ hybridization fusion signals on both copies of chromosome 22 in a Philadelphia-masked chronic myeloid leukemia case: implication for the therapy
Published in Hematology reports (24-03-2021)“…The cytogenetic hallmark of Chronic Myeloid Leukemia (CML) is the presence of Philadelphia (Ph) chromosome, which results from a reciprocal translocation…”
Get full text
Journal Article -
6
Establishment and Characterization of a New Ewing's Sarcoma Cell Line From a Malignant Pleural Effusion
Published in Anticancer research (01-09-2007)“…Background: Ewing's sarcoma cell lines may represent a good in vitro model for the understanding of tumor biology in this heterogeneous group of diseases. In…”
Get full text
Journal Article -
7
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism
Published in European journal of medical genetics (01-02-2020)“…Chromosomal anomalies are well known to be an important cause of infertility, sterility and pregnancy loss. Balanced Reciprocal Translocation Mosaicism (BRTM)…”
Get full text
Journal Article -
8
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations
Published in Ophthalmic genetics (01-09-2016)“…To uncover underlying mutations in a cohort of Italian patients with aniridia, a rare congenital panocular condition with an incidence ranging from 1:64,000 to…”
Get full text
Journal Article -
9
De novo balanced chromosome rearrangements in prenatal diagnosis
Published in Prenatal diagnosis (01-03-2009)“…Objective We surveyed the datasheets of 29 laboratories concerning prenatal diagnosis of de novo apparently balanced chromosome rearrangements to assess the…”
Get full text
Journal Article -
10
Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits
Published in European journal of medical genetics (01-07-2010)“…Abstract There have been reports that a number of patients with a chromosome 18pter deletion have developed autoimmune disorders, including juvenile diabetes,…”
Get full text
Journal Article -
11
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
Published in Molecular cytogenetics (30-10-2013)“…Small supernumerary marker chromosomes (sSMCs) are additional, structurally abnormal chromosomes, generally smaller than chromosome 20 of the same metaphase…”
Get full text
Journal Article -
12
Frequent p53 gene involvement in splenic B-cell leukemia/lymphomas of possible marginal zone origin
Published in Blood (01-07-1994)“…A phenotypic and molecular evaluation was made of 15 patients with mature B-cell leukemia/lymphoma showing exclusive spleen and bone marrow involvement…”
Get full text
Journal Article -
13
De novo balanced chromosome rearrangements in prenatal diagnosis
Published in Prenatal diagnosis (2009)Get full text
Journal Article -
14
Microgranular variant of acute promyelocytic leukemia in children
Published in Journal of clinical oncology (01-09-1992)“…The microgranular variant (M3v) of acute promyelocytic leukemia (APL) rarely has been reported in a pediatric series of acute nonlymphoblastic leukemia (AnLL)…”
Get more information
Journal Article -
15
Cytogenetic and myelodysplastic alterations after autologous hemopoietic stem cell transplantation
Published in Leukemia research (01-03-1999)“…Secondary myelodysplastic syndrome/acute myelogenous leukemia (MDS/AML) are today considered a primary complication of autologous hematopoietic stem cell…”
Get full text
Journal Article -
16
Response of myelodysplastic syndrome bone marrow cells to multiple cytokine stimulation in liquid cultures: an in situ hybridization study
Published in Haematologica (Roma) (01-09-1997)“…Fondazione Matarelli, Centro Trapianti di Midollo Ospedale Maggiore IRCCS, Milan, Italy. BACKGROUND AND OBJECTIVE: Myelodysplastic syndrome progenitor cells…”
Get full text
Journal Article -
17
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations
Published in Ophthalmic Genetics (02-07-2016)“…Purpose: To uncover underlying mutations in a cohort of Italian patients with aniridia, a rare congenital panocular condition with an incidence ranging from…”
Get full text
Report -
18
First trimester fetal karyotyping: one thousand diagnoses
Published in Human genetics (01-03-1986)“…Cytogenetic investigations for diagnostic purposes were performed on 1000 first trimester samples of chorionic villi (CVS) in two laboratories using similar…”
Get full text
Journal Article -
19
Definition of an acquired 11q deletion in a tumorigenic human monocytic cell line
Published in Human genetics (01-03-1990)Get full text
Journal Article -
20
Chromosome changes in human monocytic cell lines with in vitro spontaneous malignant transformation
Published in Human genetics (01-11-1986)“…Serial chromosome studies were performed on four monocytic cell lines established from bone marrow samples of patients suffering from hematopoietic disorders…”
Get full text
Journal Article