about
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathyPeriventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneGenotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients.Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation.A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literatureDifferent molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.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.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.MECP2 duplication phenotype in symptomatic females: report of three further cases.Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.Three cases of primary cutaneous lymphoblastic lymphoma: microarray-based comparative genomic hybridization and gene expression profiling studies with review of literature.Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature.TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.Phenotypical/functional characterization of in vitro-expanded mesenchymal stromal cells from patients with Crohn's disease.Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia.Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach.Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation.Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease.MEF2C deletions and mutations versus duplications: a clinical comparison.Refining the phenotype associated with MEF2C haploinsufficiency.Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.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.Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion.Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms.Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and FemalesEndothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality markerErratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
P50
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P50
description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Francesca Novara
@en
Francesca Novara
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Francesca Novara
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Francesca Novara
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type
label
Francesca Novara
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Francesca Novara
@es
Francesca Novara
@nl
Francesca Novara
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prefLabel
Francesca Novara
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Francesca Novara
@es
Francesca Novara
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Francesca Novara
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P106
P1153
57190369673
P21
P31
P496
0000-0003-1216-0231