Lista de obras - Monica Miozzo - Dominio Público Uruguay

(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome

artículo científico publicado en 2020

19p Deletion in Recurring Leiomyosarcoma Lesions from the Same Patient

artículo científico publicado en 2000

972Impact of Genetic Polymorphisms on the Risk of Sepsis in Premature Neonates.

artículo científico publicado en 2014

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins

scientific article published on 26 December 2018

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

artículo científico publicado en 2016

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

artículo científico publicado en 2018

A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency.

artículo científico publicado en 2001

A t(2;3)(q12–13;p24–25) in follicular thyroid adenomas

artículo científico publicado en 1992

A tumor suppressor locus in familial and sporadic chordoma maps to 1p36.

artículo científico publicado en 2000

Angiogenesis in human brain tumors: screening of drug response through a patient-specific cell platform for personalized therapy.

artículo científico publicado en 2018

Angiotensin-converting enzyme and adducin-1 polymorphisms in women with preeclampsia and gestational hypertension

artículo científico publicado en 2009

Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene

artículo científico publicado en 2014

Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

artículo científico publicado en 2015

Biparental expression of ESX1L gene in placentas from normal and intrauterine growth-restricted pregnancies

article

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

artículo científico publicado en 2018

Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome

scientific article published on 01 August 1998

Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.

artículo científico publicado en 2007

Chromosome abnormalities and fragile sites in human melanoma

artículo científico publicado en 1990

Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi.

artículo científico publicado en 2006

Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies

artículo científico publicado en 2010

Corrigendum: Genome-Wide Analysis of DNA Methylation, Copy Number Variation, and Gene Expression in Monozygotic Twins Discordant for Primary Biliary Cirrhosis

artículo científico publicado en 2014

Cytogenetic abnormalities and overexpression of receptors for growth factors in normal bronchial epithelium and tumor samples of lung cancer patients

scientific article published on 01 January 1991

Cytogenetic and molecular genetic characterization of papillary thyroid carcinomas

artículo científico publicado en 1992

Cytogenetic study in therapy-related myelodysplastic syndromes (t-MDS) and acute non-lymphocytic leukaemia (t-ANLL)

artículo científico publicado en 1990

Deletions of 17p and p53 mutations in preneoplastic lesions of the lung

scientific article published on 01 November 1992

Delineating the cytogenomic and epigenomic landscapes of glioma stem cell lines

artículo científico publicado en 2013

Detection of Loss of Imprinting by Pyrosequencing®

artículo científico publicado en 2015

Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients.

artículo científico publicado en 2015

ESX1 gene expression as a robust marker of residual spermatogenesis in azoospermic men.

artículo científico publicado en 2010

ESX1 mRNA expression in seminal fluid is an indicator of residual spermatogenesis in non-obstructive azoospermic men

artículo científico publicado en 2014

Endometrioid-like yolk sac and Sertoli-Leydig cell tumors in a carrier of a Y heterochromatin insertion into 1qh region: a causal association?

artículo científico publicado en 2007

Epigenetic alterations in cancer and personalized cancer treatment

artículo científico publicado en 2015

Epigenetic effects of chromatin remodeling agents on organotypic cultures.

artículo científico publicado en 2016

Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction

artículo científico publicado en 2010

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

artículo científico publicado en 2016

Erratum: OTX1 expression in breast cancer is regulated by p53

artículo científico publicado en 2014

Erratum: OTX1 expression in breast cancer is regulated by p53

scholarly article published in Oncogene

Extensive Placental Methylation Profiling in Normal Pregnancies

artículo científico publicado en 2021

Fetal and placental chromosomal mosaicism revealed by QF-PCR in severe IUGR pregnancies.

artículo científico publicado en 2005

Fetal growth restriction: a workshop report.

artículo científico publicado en 2004

First cytogenetic study of a recurrent familial chordoma of the clivus

artículo científico publicado en 1999

Fragile X syndrome: a review of clinical and molecular diagnoses

artículo científico publicado en 2017

Frequency of monosomy X in women with primary biliary cirrhosis.

artículo científico publicado en 2004

Gene Expression Profile Analysis of Human Mesenchymal Stem Cells from Herniated and Degenerated Intervertebral Discs Reveals Different Expression of Osteopontin

article

Genetic changes in lung cancer

article

Genetic evidence for an independent origin of multiple preneoplastic and neoplastic lung lesions.

artículo científico publicado en 1995

Genetic polymorphisms and sepsis in premature neonates

artículo científico publicado en 2014

Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

artículo científico publicado en 2016

Genome-wide analysis of DNA methylation, copy number variation, and gene expression in monozygotic twins discordant for primary biliary cirrhosis

artículo científico publicado en 2014

Germline oncopharmacogenetics, a promising field in cancer therapy

scientific article published on 09 January 2015

H2020 and Beyond: Skip Discrepancy between Theory and Practice of Personalized Medicine. A Position Paper by the Italian Society of Personalized Medicine

artículo científico publicado en 2016

HER-2/Neu alterations in non-small cell lung cancer: a comprehensive evaluation by real time reverse transcription-PCR, fluorescence in situ hybridization, and immunohistochemistry

artículo científico publicado en 2003

Homozygous intragenic loss of the WT1 locus in a sporadic intralobar wilms' tumor

artículo científico publicado en 1993

Human TRK proto-oncogene maps to chromosome 1q32-q41

artículo científico publicado en 1990

Human cholangiocarcinoma development is associated with dysregulation of opioidergic modulation of cholangiocyte growth.

artículo científico publicado en 2008

Impact of Mutation Density and Heterogeneity on Papillary Thyroid Cancer Clinical Features and Remission Probability

scientific article published on 16 January 2019

Increased VEGF levels in one case of papillary tumor of the pineal region with intracranial haemorrhage at presentation: a potential surrogate indicator of tumor angiogenesis and aggressiveness?

artículo científico publicado en 2016

Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis

artículo científico publicado en 2011

Involvement of chromosomes 17 and 22 in dermatofibrosarcoma protuberans.

artículo científico

Involvement of the region 13q14 in a patient with adamantinoma of the long bones

artículo científico publicado en 1990

Lipoprotein Lipase (LPL) mRNA Expression in Placentas from Normal and IUGR (Intrauterine Growth Restricted) Pregnancies by Real-Time PCR

Loss of the inactive X chromosome and replication of the active X in BRCA1-defective and wild-type breast cancer cells

artículo científico publicado en 2005

MGMT-Methylated Alleles Are Distributed Heterogeneously Within Glioma Samples Irrespective of IDH Status and Chromosome 10q Deletion

artículo científico publicado en 2016

Mapping of a Putative Tumor Suppressor Locus to Proximal 7p in Wilms Tumors

artículo científico publicado en 1996

Mapping of candidate region for chordoma development to 1p36.13 by LOH analysis

artículo científico publicado en 2003

Mass spectrometry-based assay for the molecular diagnosis of glioma: concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status

artículo científico publicado en 2017

MassARRAY-based simultaneous detection of hotspot somatic mutations and recurrent fusion genes in papillary thyroid carcinoma: the PTC-MA assay.

artículo científico publicado en 2017

Mesenchymal stem cells: potential for therapy and treatment of chronic non-healing skin wounds

artículo científico publicado en 2015

Microsatellite alterations in bronchial and sputum specimens of lung cancer patients.

artículo científico publicado en 1996

Misbehaviour of XIST RNA in breast cancer cells

artículo científico publicado en 2009

Mitochondrial DNA content and methylation in fetal cord blood of pregnancies with placental insufficiency

artículo científico publicado en 2017

Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy

artículo científico publicado en 2018

Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry.

artículo científico publicado en 2018

Morphologic, immunologic, and cytogenetic characteristics of secondary acute unclassifiable leukemia in Hodgkin's disease

scientific article published on 01 August 1988

OTX1 expression in breast cancer is regulated by p53.

artículo científico publicado en 2011

PDGFB hypomethylation is a favourable prognostic biomarker in primary myelofibrosis.

artículo científico publicado en 2014

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.

artículo científico publicado en 2000

Placental IGF2 Expression in Normal and Intrauterine Growth Restricted (IUGR) Pregnancies

artículo científico publicado en 2007

Placental LPL Gene Expression Is Increased in Severe Intrauterine Growth-Restricted Pregnancies

article

Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression

artículo científico publicado en 2001

Preferential X chromosome loss but random inactivation characterize primary biliary cirrhosis.

artículo científico publicado en 2007

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

artículo científico publicado en 2012

Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations

artículo científico publicado en 2004

Primary biliary cirrhosis: does X mark the spot?

artículo científico publicado en 2004

Prognostic value of preoperative von Willebrand factor plasma levels in patients with Glioblastoma

artículo científico publicado en 2016

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

artículo científico publicado en 2013

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

artículo científico publicado en 2009

Refined localization to contiguous regions on chromosome 10q of the two genes (H4 and RET) that form the oncogenic sequence PTC

artículo científico publicado en 1991

Relevance of cytogenetic and fluorescent in situ hybridization analyses in the clinical assessment of soft tissue sarcoma.

artículo científico

Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies

artículo científico publicado en 2017

Role of polymorphisms of toll-like receptor (TLR) 4, TLR9, toll-interleukin 1 receptor domain containing adaptor protein (TIRAP) and FCGR2A genes in malaria susceptibility and severity in Burundian children

artículo científico publicado en 2012

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

artículo científico publicado en 2010

SNAT2 expression and regulation in human growth-restricted placentas

artículo científico publicado en 2013

STAR syndrome plus: The first description of a female patient with the lethal form

artículo científico publicado en 2017

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

artículo científico publicado en 2017

Significance of clustered tumor suppressor genes in cancer

artículo científico publicado en 2012

Skewing of X chromosome inactivation in autoimmunity.

artículo científico publicado en 2008

The Adipose Mesenchymal Stem Cell Secretome Inhibits Inflammatory Responses of Microglia: Evidence for an Involvement of Sphingosine-1-Phosphate Signalling

artículo científico publicado en 2016

The expression pattern of small nucleolar and small Cajal body-specific RNAs characterizes distinct molecular subtypes of multiple myeloma.

artículo científico publicado en 2012

The human tropomyosin gene involved in the generation of the TRK oncogene maps to chromosome 1q31

artículo científico publicado en 1991

The mammary gland and the homeobox gene Otx1.

artículo científico publicado en 2010

The oncogene associated with human papillary thyroid carcinoma (PTC) is assigned to chromosome 10 q11-q12 in the same region as multiple endocrine neoplasia type 2A (MEN2A).

artículo científico publicado en 1989

The two genes generating RET/PTC3 are localized in chromosomal band 10q11.2.

artículo científico publicado en 1994

Three cases with de novo 6q imbalance and variable prenatal phenotype

artículo científico publicado en 2005

Transferrin receptor gene and protein expression and localization in human IUGR and normal term placentas

article

X chromosome inactivation pattern in BRCA gene mutation carriers

artículo científico publicado en 2012

X chromosome monosomy: a common mechanism for autoimmune diseases.

artículo científico publicado en 2005

X monosomy in female systemic lupus erythematosus.

artículo científico publicado en 2007

Y chromosome loss in male patients with primary biliary cirrhosis

artículo científico publicado en 2013

[Early nutrition: the role of genetics and epigenetics].

artículo científico publicado en 2009

Lista de obras de Monica Miozzo

(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome

19p Deletion in Recurring Leiomyosarcoma Lesions from the Same Patient

972Impact of Genetic Polymorphisms on the Risk of Sepsis in Premature Neonates.

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency.

A t(2;3)(q12–13;p24–25) in follicular thyroid adenomas

A tumor suppressor locus in familial and sporadic chordoma maps to 1p36.

Angiogenesis in human brain tumors: screening of drug response through a patient-specific cell platform for personalized therapy.

Angiotensin-converting enzyme and adducin-1 polymorphisms in women with preeclampsia and gestational hypertension

Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene

Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

Biparental expression of ESX1L gene in placentas from normal and intrauterine growth-restricted pregnancies

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome

Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.

Chromosome abnormalities and fragile sites in human melanoma

Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi.

Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies

Corrigendum: Genome-Wide Analysis of DNA Methylation, Copy Number Variation, and Gene Expression in Monozygotic Twins Discordant for Primary Biliary Cirrhosis

Cytogenetic abnormalities and overexpression of receptors for growth factors in normal bronchial epithelium and tumor samples of lung cancer patients

Cytogenetic and molecular genetic characterization of papillary thyroid carcinomas

Cytogenetic study in therapy-related myelodysplastic syndromes (t-MDS) and acute non-lymphocytic leukaemia (t-ANLL)

Deletions of 17p and p53 mutations in preneoplastic lesions of the lung

Delineating the cytogenomic and epigenomic landscapes of glioma stem cell lines

Detection of Loss of Imprinting by Pyrosequencing®

Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients.

ESX1 gene expression as a robust marker of residual spermatogenesis in azoospermic men.

ESX1 mRNA expression in seminal fluid is an indicator of residual spermatogenesis in non-obstructive azoospermic men

Endometrioid-like yolk sac and Sertoli-Leydig cell tumors in a carrier of a Y heterochromatin insertion into 1qh region: a causal association?

Epigenetic alterations in cancer and personalized cancer treatment

Epigenetic effects of chromatin remodeling agents on organotypic cultures.

Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Erratum: OTX1 expression in breast cancer is regulated by p53

Erratum: OTX1 expression in breast cancer is regulated by p53

Extensive Placental Methylation Profiling in Normal Pregnancies

Fetal and placental chromosomal mosaicism revealed by QF-PCR in severe IUGR pregnancies.

Fetal growth restriction: a workshop report.

First cytogenetic study of a recurrent familial chordoma of the clivus

Fragile X syndrome: a review of clinical and molecular diagnoses

Frequency of monosomy X in women with primary biliary cirrhosis.

Gene Expression Profile Analysis of Human Mesenchymal Stem Cells from Herniated and Degenerated Intervertebral Discs Reveals Different Expression of Osteopontin

Genetic changes in lung cancer

Genetic evidence for an independent origin of multiple preneoplastic and neoplastic lung lesions.

Genetic polymorphisms and sepsis in premature neonates

Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

Genome-wide analysis of DNA methylation, copy number variation, and gene expression in monozygotic twins discordant for primary biliary cirrhosis

Germline oncopharmacogenetics, a promising field in cancer therapy

H2020 and Beyond: Skip Discrepancy between Theory and Practice of Personalized Medicine. A Position Paper by the Italian Society of Personalized Medicine

HER-2/Neu alterations in non-small cell lung cancer: a comprehensive evaluation by real time reverse transcription-PCR, fluorescence in situ hybridization, and immunohistochemistry

Homozygous intragenic loss of the WT1 locus in a sporadic intralobar wilms' tumor

Human TRK proto-oncogene maps to chromosome 1q32-q41

Human cholangiocarcinoma development is associated with dysregulation of opioidergic modulation of cholangiocyte growth.

Impact of Mutation Density and Heterogeneity on Papillary Thyroid Cancer Clinical Features and Remission Probability

Increased VEGF levels in one case of papillary tumor of the pineal region with intracranial haemorrhage at presentation: a potential surrogate indicator of tumor angiogenesis and aggressiveness?

Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis

Involvement of chromosomes 17 and 22 in dermatofibrosarcoma protuberans.

Involvement of the region 13q14 in a patient with adamantinoma of the long bones

Lipoprotein Lipase (LPL) mRNA Expression in Placentas from Normal and IUGR (Intrauterine Growth Restricted) Pregnancies by Real-Time PCR

Loss of the inactive X chromosome and replication of the active X in BRCA1-defective and wild-type breast cancer cells

MGMT-Methylated Alleles Are Distributed Heterogeneously Within Glioma Samples Irrespective of IDH Status and Chromosome 10q Deletion

Mapping of a Putative Tumor Suppressor Locus to Proximal 7p in Wilms Tumors

Mapping of candidate region for chordoma development to 1p36.13 by LOH analysis

Mass spectrometry-based assay for the molecular diagnosis of glioma: concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status

MassARRAY-based simultaneous detection of hotspot somatic mutations and recurrent fusion genes in papillary thyroid carcinoma: the PTC-MA assay.

Mesenchymal stem cells: potential for therapy and treatment of chronic non-healing skin wounds

Microsatellite alterations in bronchial and sputum specimens of lung cancer patients.

Misbehaviour of XIST RNA in breast cancer cells

Mitochondrial DNA content and methylation in fetal cord blood of pregnancies with placental insufficiency

Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy

Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry.

Morphologic, immunologic, and cytogenetic characteristics of secondary acute unclassifiable leukemia in Hodgkin's disease

OTX1 expression in breast cancer is regulated by p53.

PDGFB hypomethylation is a favourable prognostic biomarker in primary myelofibrosis.

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.

Placental IGF2 Expression in Normal and Intrauterine Growth Restricted (IUGR) Pregnancies

Placental LPL Gene Expression Is Increased in Severe Intrauterine Growth-Restricted Pregnancies