Lista de obras - Francesca Novara - Dominio Público Uruguay

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

artículo científico publicado en 2008

A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis

scientific article published on 01 December 2011

Bone osteoblastic and mesenchymal stromal cells lack primarily tumoral features in multiple myeloma patients

artículo científico publicado en 2010

Cell-cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors

artículo científico publicado en 2011

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

artículo científico publicado en 2008

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

artículo científico publicado en 2009

Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia

artículo científico publicado en 2015

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

artículo científico publicado en 2006

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

artículo científico publicado en 2007

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

artículo científico publicado en 2014

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.

scientific article published on 30 May 2009

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

artículo científico publicado en 2013

Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature

artículo científico publicado en 2016

Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease.

artículo científico publicado en 2009

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

artículo científico publicado en 2008

Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker

scientific article published on 23 July 2009

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Functional and genetic aberrations of in vitro-cultured marrow-derived mesenchymal stromal cells of patients with classical Philadelphia-negative myeloproliferative neoplasms

artículo científico publicado en 2014

Generation of mesenchymal stromal cells in the presence of platelet lysate: a phenotypic and functional comparison of umbilical cord blood- and bone marrow-derived progenitors.

artículo científico publicado en 2009

Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach

artículo científico publicado en 2013

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

artículo científico publicado en 2010

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

artículo científico publicado en 2017

Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature

artículo científico publicado en 2014

High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma

artículo científico publicado en 2009

Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms

artículo científico publicado en 2007

Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation

artículo científico publicado en 2014

In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients.

artículo científico publicado en 2014

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

artículo científico publicado en 2012

MECP2 duplication phenotype in symptomatic females: report of three further cases.

artículo científico publicado en 2014

MEF2C deletions and mutations versus duplications: a clinical comparison.

artículo científico publicado en 2013

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

artículo científico publicado en 2011

Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell-therapy approaches: further insights in the search for a fetal calf serum substitute.

artículo científico publicado en 2007

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

scientific journal article

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

artículo científico publicado en 2012

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

artículo científico publicado en 2008

Periventricular nodular heterotopia in Smith-Magenis syndrome

artículo científico publicado en 2014

Phenotypical/functional characterization of in vitro-expanded mesenchymal stromal cells from patients with Crohn's disease.

artículo científico publicado en 2009

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

artículo científico publicado en 2014

Refining the phenotype associated with MEF2C haploinsufficiency.

artículo científico publicado en 2010

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

artículo científico publicado en 2010

Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation.

artículo científico publicado en 2012

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy

artículo científico publicado en 2014

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

artículo científico publicado en 2009

Three cases of primary cutaneous lymphoblastic lymphoma: microarray-based comparative genomic hybridization and gene expression profiling studies with review of literature.

artículo científico

Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion.

artículo científico publicado en 2011

Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.

artículo científico publicado en 2014

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

artículo científico publicado en 2010

Lista de obras de Francesca Novara

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis

Bone osteoblastic and mesenchymal stromal cells lack primarily tumoral features in multiple myeloma patients

Cell-cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

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

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature

Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease.

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Functional and genetic aberrations of in vitro-cultured marrow-derived mesenchymal stromal cells of patients with classical Philadelphia-negative myeloproliferative neoplasms

Generation of mesenchymal stromal cells in the presence of platelet lysate: a phenotypic and functional comparison of umbilical cord blood- and bone marrow-derived progenitors.

Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature

High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma

Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms

Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation

In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients.

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

MECP2 duplication phenotype in symptomatic females: report of three further cases.

MEF2C deletions and mutations versus duplications: a clinical comparison.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell-therapy approaches: further insights in the search for a fetal calf serum substitute.

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

Periventricular nodular heterotopia in Smith-Magenis syndrome

Phenotypical/functional characterization of in vitro-expanded mesenchymal stromal cells from patients with Crohn's disease.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Refining the phenotype associated with MEF2C haploinsufficiency.

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation.

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Three cases of primary cutaneous lymphoblastic lymphoma: microarray-based comparative genomic hybridization and gene expression profiling studies with review of literature.

Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion.

Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy