Lista de obras - Mariano Rocchi - Dominio Público Uruguay

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

artículo científico publicado en 2006

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico

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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

Analysis of segmental duplications and genome assembly in the mouse

artículo científico publicado en 2004

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

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Centromere repositioning in mammals.

artículo científico publicado en 2011

Centromere sliding on a mammalian chromosome

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

Comparative and demographic analysis of orang-utan genomes

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 2020

Episomal amplification of MYCN in a case of medulloblastoma.

artículo científico publicado en 2008

Evidence for widespread reticulate evolution within human duplicons

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 2004

Evolutionary Formation of New Centromeres in Macaque

artículo científico publicado en 2007

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

Evolutionary history of chromosome 20.

artículo científico publicado en 2004

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

artículo científico

Evolutionary movement of centromeres in horse, donkey, and zebra

artículo científico publicado en 2006

Evolutionary new centromeres in primates.

artículo científico publicado en 2009

Evolutionary-new centromeres preferentially emerge within gene deserts

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2004

Inverted duplications: how many of them are mosaic?

artículo científico publicado en 2004

Late-appearing pseudocentric fission event during chronic myeloid leukemia progression

artículo científico publicado en 2007

Localization of beta-defensin genes in non human primates

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

Progressive proximal expansion of the primate X chromosome centromere

artículo científico publicado en 2005

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

artículo científico publicado en 2005

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?

artículo científico publicado en 2005

Recurrent sites for new centromere seeding

scientific article published on September 2004

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 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)

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2004

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

Lista de obras de Mariano Rocchi

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

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

A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons.

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

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

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

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

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

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

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

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

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

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

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

Analysis of segmental duplications and genome assembly in the mouse

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

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

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

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

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

Centromere repositioning in mammals.

Centromere sliding on a mammalian chromosome

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

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

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

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

Comparative and demographic analysis of orang-utan genomes

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

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

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

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

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

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

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

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

Episomal amplification of MYCN in a case of medulloblastoma.

Evidence for widespread reticulate evolution within human duplicons

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

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

Evolutionary Formation of New Centromeres in Macaque

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

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

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

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

Evolutionary history of chromosome 20.

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

Evolutionary movement of centromeres in horse, donkey, and zebra

Evolutionary new centromeres in primates.

Evolutionary-new centromeres preferentially emerge within gene deserts

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

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

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

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

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

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

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

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

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

Insertion of telomeric repeats at intrachromosomal break sites during primate evolution

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

Inverted duplications: how many of them are mosaic?

Late-appearing pseudocentric fission event during chronic myeloid leukemia progression

Localization of beta-defensin genes in non human primates

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

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

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

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

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

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

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

Molecular refinement of gibbon genome rearrangements

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

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

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

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

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