List of works - Elena Belloni

8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes

scientific article published in March 2005

A PDGFRB-positive acute myeloid malignancy with a new t(5;12)(q33;p13.3) involving the ERC1 gene

article

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

scientific article

A new complex rearrangement involving the ETV6, LOC115548, and MN1 genes in a case of acute myeloid leukemia.

scientific article published in November 2004

A new dic(7;12)(p12.21;p12.2) chromosome aberration in a case of acute myeloid leukemia

scientific article published on 01 September 2008

A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin

article

A novel t(2;3)(p11;q27) in a case of follicular lymphoma

scientific article published on 01 January 2007

A novel t(7;13)(p12;q33∼q34) in AML-M2

scientific article published on 01 December 2009

A serum circulating miRNA diagnostic test to identify asymptomatic high-risk individuals with early stage lung cancer

scientific article

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

scientific article published in April 1998

Chromosomal rearrangements in acute myeloid leukemia (AML).

scientific article published on 30 September 2010

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

scientific article published on August 1997

FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndrome

scientific article published on 03 March 2005

Gene expression profiling reveals GC and CEACAM1 as new tools in the diagnosis of lung carcinoids

scientific article published on 11 February 2014

Genomic characterization of asymptomatic CT-detected lung cancers.

scientific article published on 25 October 2010

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency

scientific article published on 01 May 2000

Human chromosome 7: DNA sequence and biology

scientific article

In vivo expression of an aberrant MYB-GATA1 fusion induces leukemia in the presence of GATA1 reduced levels

scientific article published on 21 January 2011

Involvement of the HLXB9 homeobox gene in Currarino syndrome

scientific article

Localization of two metabotropic glutamate receptor genes, GRM3 and GRM8, to human chromosome 7q.

scientific article

Lung Cancer Onset in Wild Type Mice Following Bone Marrow Reconstitution with kras(v12) Cells.

scientific article published on 12 August 2015

Molecular characterization of a t(1;3)(p36;q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t(1;3) cells.

scientific article

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

scientific article published on October 1997

NUP98 is fused to HOXA9 in a variant complex t(7;11;13;17) in a patient with AML-M2.

scientific article

PAT-ChIP coupled with laser microdissection allows the study of chromatin in selected cell populations from paraffin-embedded patient samples.

scientific article

Population Differences in the Polyalanine Domain and 6 New Mutations in HLXB9 in Patients with Currarino Syndrome

scientific article published on 27 October 2005

Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations

article

Spectral karyotyping (SKY)

scientific article published on 13 October 2010

Whole exome sequencing identifies driver mutations in asymptomatic computed tomography-detected lung cancers with normal karyotype

scientific article published on 20 February 2015

List of works by Elena Belloni

8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes

A PDGFRB-positive acute myeloid malignancy with a new t(5;12)(q33;p13.3) involving the ERC1 gene

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

A new complex rearrangement involving the ETV6, LOC115548, and MN1 genes in a case of acute myeloid leukemia.

A new dic(7;12)(p12.21;p12.2) chromosome aberration in a case of acute myeloid leukemia

A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin

A novel t(2;3)(p11;q27) in a case of follicular lymphoma

A novel t(7;13)(p12;q33∼q34) in AML-M2

A serum circulating miRNA diagnostic test to identify asymptomatic high-risk individuals with early stage lung cancer

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

Chromosomal rearrangements in acute myeloid leukemia (AML).

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndrome

Gene expression profiling reveals GC and CEACAM1 as new tools in the diagnosis of lung carcinoids

Genomic characterization of asymptomatic CT-detected lung cancers.

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency

Human chromosome 7: DNA sequence and biology

In vivo expression of an aberrant MYB-GATA1 fusion induces leukemia in the presence of GATA1 reduced levels

Involvement of the HLXB9 homeobox gene in Currarino syndrome

Localization of two metabotropic glutamate receptor genes, GRM3 and GRM8, to human chromosome 7q.

Lung Cancer Onset in Wild Type Mice Following Bone Marrow Reconstitution with kras(v12) Cells.

Molecular characterization of a t(1;3)(p36;q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t(1;3) cells.

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

NUP98 is fused to HOXA9 in a variant complex t(7;11;13;17) in a patient with AML-M2.

PAT-ChIP coupled with laser microdissection allows the study of chromatin in selected cell populations from paraffin-embedded patient samples.

Population Differences in the Polyalanine Domain and 6 New Mutations in HLXB9 in Patients with Currarino Syndrome

Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations

Spectral karyotyping (SKY)

Whole exome sequencing identifies driver mutations in asymptomatic computed tomography-detected lung cancers with normal karyotype