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List of works by Mariano Rocchi

A Ph-negative chronic myeloid leukemia with a complex BCR/ABL rearrangement and a t(6;9)(p21;q34.1).

scientific article

A chronic myelocytic leukemia case bearing deletions on the three chromosomes involved in a variant t(9;22;11)

scientific article published on 01 January 2004

A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons.

scientific article

A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient

scientific article published in December 2008

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome

scientific article published on October 2004

A fluorescence in situ hybridization study of complex t(9;22) in two chronic myelocytic leukemia cases with a masked Philadelphia chromosome

scientific article published in April 2004

A genome-wide comparison of recent chimpanzee and human segmental duplications

scientific article

A genome-wide survey of structural variation between human and chimpanzee

scientific article

A novel FISH assay for SS18-SSX fusion type in synovial sarcoma

scientific article published in September 2004

A novel chromosomal translocation t(3;7)(q26;q21) in myeloid leukemia resulting in overexpression of EVI1.

scientific article published on 10 October 2003

A novel fusion 5′AFF3/3′BCL2 originated from a t(2;18)(q11.2;q21.33) translocation in follicular lymphoma

scientific article published on 14 July 2008

A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22

scientific article published on 01 February 2009

A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications

scientific article

A satellite-like sequence, representing a “clone gap” in the human genome, was likely involved in the seeding of a novel centromere in macaque

scientific article published on 02 December 2008

Analysis of segmental duplications and genome assembly in the mouse

scientific article published on May 2004

Ancestral genomes reconstruction: an integrated, multi-disciplinary approach is needed.

scientific article published on 19 October 2006

BeEAM (bendamustine, etoposide, cytarabine, melphalan) before autologous stem cell transplantation is safe and effective for resistant/relapsed lymphoma patients

scientific article published on 03 August 2011

Bone marrow ectopic expression of a non-coding RNA in childhood T-cell acute lymphoblastic leukemia with a novel t(2;11)(q11.2;p15.1) translocation

scientific article published on 23 October 2008

CBFA2T2 and C20orf112: two novel fusion partners of RUNX1 in acute myeloid leukemia.

scientific article published on 3 June 2010

Centromere remodeling in Hoolock leuconedys (Hylobatidae) by a new transposable element unique to the gibbons.

scientific article published on 16 May 2012

Centromere repositioning in mammals.

scientific article published on 2 November 2011

Centromere sliding on a mammalian chromosome

scientific article published on 21 November 2014

Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events

article

Characterization of a new trabectedin-resistant myxoid liposarcoma cell line that shows collateral sensitivity to methylating agents.

scientific article

Characterization of a recurrent translocation t(2;3)(p15-22;q26) occurring in acute myeloid leukaemia

scientific article

Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: a case report.

scientific article

Comparative and demographic analysis of orang-utan genomes

scientific article

Copy number variation analysis in the great apes reveals species-specific patterns of structural variation

scientific article

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

scientific article published on 31 August 2007

Cytogenetics and fluorescence in-situ hybridization in detection of hematological malignancies.

scientific article published on October 2003

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s

scientific article (publication date: 2012)

Derivative chromosome 9 deletions in chronic myeloid leukemia are associated with loss of tumor suppressor genes

scientific article

Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?

scientific article published on 15 November 2005

Downregulated expression of genes mapping on chromosome 9 in chronic myeloid leukemia cases bearing genomic deletions on der(9)

article

Eight million years of maintained heterozygosity in chromosome homologs of cercopithecine monkeys

scientific article published on 10 January 2020

Episomal amplification of MYCN in a case of medulloblastoma

scientific article

Evidence for widespread reticulate evolution within human duplicons

scientific article

Evolution of beta satellite DNA sequences: evidence for duplication-mediated repeat amplification and spreading.

scientific article

Evolution of human IgH3'EC duplicated structures: both enhancers HS1,2 are polymorphic with variation of transcription factor's consensus sites

scientific article

Evolutionary Formation of New Centromeres in Macaque

scientific article published in Science

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

scientific article

Evolutionary and clinical neocentromeres: two faces of the same coin?

scientific article published on 15 February 2008

Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2).

scientific article published on 14 March 2007

Evolutionary history of chromosome 11 featuring four distinct centromere repositioning events in Catarrhini

scientific article published on 8 May 2007

Evolutionary history of chromosome 20.

scientific article

Evolutionary molecular cytogenetics of catarrhine primates: past, present and future.

scientific article published on 16 June 2012

Evolutionary movement of centromeres in horse, donkey, and zebra

scientific article published on 18 January 2006

Evolutionary new centromeres in primates.

scientific article published on January 2009

Evolutionary-new centromeres preferentially emerge within gene deserts

scientific article (publication date: 2008)

Extramedullary molecular evidence of the 5′KIAA1509/3′PDGFRB fusion gene in chronic eosinophilic leukemia

article

Familial whole-arm translocations (1;19), (9;13), and (12;21): a review of 101 constitutional exchanges

scientific article published on January 2007

Five Novel Locations of Neocentromeres in Human: 18q22.1, Xq27.1~27.2, Acro p13, Acro p12, and Heterochromatin of Unknown Origin

scientific article published on 01 March 2012

Gene amplification as double minutes or homogeneously staining regions in solid tumors: origin and structure

scientific article published on 14 July 2010

Genomic and molecular switching in relapsed acute promyelocytic leukemia

Genomic organization and evolution of double minutes/homogeneously staining regions with MYC amplification in human cancer

scientific article

Genomic segmental duplications on the basis of the t(9;22) rearrangement in chronic myeloid leukemia

Gibbon genome and the fast karyotype evolution of small apes

scientific article

Heterochromatin protein 1 interacts with 5'UTR of transposable element ZAM in a sequence-specific fashion

scientific article published on 19 January 2007

Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication.

scientific article

Identification of a commonly amplified 4.3 Mb region with overexpression of C8FW, but not MYC in MYC-containing double minutes in myeloid malignancies

scientific article published on 26 May 2004

Insertion of telomeric repeats at intrachromosomal break sites during primate evolution

scientific article published on 12 August 2004

Insertions generating the 5'RUNX1/3'CBFA2T1 gene in acute myeloid leukemia cases show variable breakpoints

scientific article published in September 2004

Inverted duplications: how many of them are mosaic?

scientific article published on September 2004

Late-appearing pseudocentric fission event during chronic myeloid leukemia progression

scientific article published in April 2007

Localization of beta-defensin genes in non human primates

scientific article published in April 2004

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

scientific article published on 28 October 2005

MIRN199Bdownregulation in chronic myeloid leukaemia is associated with deletions on der(9)

scientific article published on 19 November 2008

MYC-containing double minutes in hematologic malignancies: evidence in favor of the episome model and exclusion of MYC as the target gene

article

Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1➔qter in prenatal diagnosis: a case report.

scientific article published on 22 October 2014

Molecular cytogenetic characterization of an ins(4;X) occurring as the sole abnormality in an aggressive, poorly differentiated soft tissue sarcoma

scientific article published on 26 August 2005

Molecular cytogenetic characterization of deletions on der(9) in chronic myelocytic leukemia

Molecular cytogenetic findings supporting the evidence of a biclonal origin in acute myeloid leukemia

article by Francesco Albano et al published 19 October 2005 in Annals of Hematology

Molecular cytogenetic study of instability at 1q21∼q32 in adult acute lymphoblastic leukemia

article published in 2005

Molecular refinement of gibbon genome rearrangements

scientific article published on 21 December 2006

New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset

scientific article

Non random distribution of genomic features in breakpoint regions involved in chronic myeloid leukemia cases with variant t(9;22) or additional chromosomal rearrangements

scientific article

On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees

scientific article

Organization and evolution of primate centromeric DNA from whole-genome shotgun sequence data

scientific article

Panels of somatic cell hybrids specific for chimpanzee, gorilla, orangutan, and baboon

scientific article published on January 2005

Pericentric chromosome 8 inversion associated with the 5?RUNX1/3?CBFA2T1 gene in acute myeloid leukemia cases

article

Position and sequence conservation in Amniota of polymorphic enhancer HS1.2 within the palindrome of IgH 3'Regulatory Region

scientific article (publication date: 15 March 2011)

Primate chromosome evolution: ancestral karyotypes, marker order and neocentromeres.

scientific article published on January 2008

Progressive proximal expansion of the primate X chromosome centromere

scientific article

Punctuated duplication seeding events during the evolution of human chromosome 2p11.

scientific article

Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male

article

Reciprocal translocations: a trap for cytogenetists?

scientific article published on 23 July 2005

Recurrent sites for new centromere seeding

scientific article published on September 2004

Refinement of Bos taurus sequence assembly based on BAC-FISH experiments.

scientific article

Refinement of macaque synteny arrangement with respect to the official rheMac2 macaque sequence assembly

scientific article published on 10 October 2008

Ring chromosomes, breakpoint clusters, and neocentromeres in sarcomas

scientific article published on 25 November 2014

Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites

scientific article

Similar mechanisms formed ring markers containing chromosome 12 pericentromeric region in two patients with therapy-related acute myeloid leukemia

scientific article published on 01 March 2008

Submicroscopic deletions in an acute myeloid leukemia case with a four-way t(8;11;16;21)

The boundary of macaque rDNA is constituted by low-copy sequences conserved during evolution.

scientific article published on 9 June 2006

The double deceit generated by an insertion mechanism in chronic myeloid leukemia with t(9;9;22)

The genome of the vervet (Chlorocebus aethiops sabaeus)

scientific article published on 16 September 2015

The interplay between genome organization and nuclear architecture of primate evolutionary neo-centromeres.

scientific article published on 3 May 2013

The structure and evolution of centromeric transition regions within the human genome

scientific article published on 01 August 2004

Tracking the complex flow of chromosome rearrangements from the Hominoidea Ancestor to extant Hylobates and Nomascus Gibbons by high-resolution synteny mapping

scientific article (publication date: September 2008)

Translocation-excision-deletion-amplification mechanism leading to nonsyntenic coamplification of MYC and ATBF1.

scientific article published on February 2006

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

scientific article published in May 2007

Upregulation of MEL1 and FLJ42875 genes by position effect resulting from a t(1;2)(p36;p21) occurring during evolution of chronic myelomonocytic leukemia

article

Upregulation of the SOX5 by promoter swapping with the P2RY8 gene in primary splenic follicular lymphoma

scientific article

t(3;12)(q26;q14) in polycythemia vera is associated with upregulation of the HMGA2 gene

article

“Home-brew” FISH assay shows higher efficiency than BCR-ABL dual color, dual fusion probe in detecting microdeletions and complex rearrangements associated with t(9;22) in chronic myeloid leukemia

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