Lista de obras - Francesca Ariani - Dominio Público Uruguay

"Omic" Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine

artículo científico publicado en 2017

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

artículo científico publicado en 2009

3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.

scientific article published on 26 February 2010

A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.

artículo científico publicado en 2007

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

artículo científico publicado en 2008

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

artículo científico publicado en 2003

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

artículo científico publicado en 2016

Advances in Alport syndrome diagnosis using next-generation sequencing

artículo científico publicado en 2011

Alport syndrome: impact of digenic inheritance in patients management.

artículo científico publicado en 2016

Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice

artículo científico publicado en 2015

Array comparative genomic hybridization in retinoma and retinoblastoma tissues

artículo científico publicado en 2009

Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case

artículo científico publicado en 2006

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

artículo científico publicado en 2005

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

artículo científico publicado en 2005

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

artículo científico publicado en 2003

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

artículo científico publicado en 2007

Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation

scientific article published on 01 May 2008

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

artículo científico publicado en 2008

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

artículo científico publicado en 2009

Efficacy and safety of moxifloxacin in acute exacerbations of chronic bronchitis and COPD: a systematic review and meta-analysis

artículo científico publicado en 2014

Epigenetic and Copy Number Variation Analysis in Retinoblastoma by MS-MLPA ⬇️

artículo científico publicado el 26 de enero de 2012

Erratum: Investigation of modifier genes within copy number variations in Rett syndrome

article

Evidence of digenic inheritance in Alport syndrome.

artículo científico publicado en 2015

Evidence of predisposing epimutation in retinoblastoma

artículo científico publicado en 2018

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

artículo científico publicado en 2016

Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

artículo científico publicado en 2012

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

scientific article published on 13 December 2011

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association

artículo científico publicado en 2008

Expert consensus guidelines for the genetic diagnosis of Alport syndrome

Exploiting the potential of next-generation sequencing in genomic medicine

artículo científico publicado en 2016

FOXG1 is responsible for the congenital variant of Rett syndrome

artículo científico publicado en 2008

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease

artículo científico publicado en 2007

Genomic differences between retinoma and retinoblastoma

artículo científico publicado en 2008

Germline mosaicism in Rett syndrome identified by prenatal diagnosis

scientific article published on 01 March 2005

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

artículo científico publicado en 2014

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

artículo científico publicado en 2010

Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice

artículo científico publicado en 2015

Italian Rett database and biobank.

artículo científico publicado en 2007

MECP2 deletions and genotype-phenotype correlation in Rett syndrome

artículo científico publicado en 2007

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

artículo científico publicado en 2015

MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype

scientific article published on 05 February 2019

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

artículo científico publicado en 2015

Non-collagen genes role in digenic Alport syndrome

article

Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.

artículo científico publicado en 2005

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

artículo científico publicado en 2009

Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients

artículo científico publicado en 2014

Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma.

artículo científico publicado en 2006

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

artículo científico publicado en 2016

Private inherited microdeletion/microduplications: implications in clinical practice.

artículo científico publicado en 2008

RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome

artículo científico publicado en 2007

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

artículo científico publicado en 2004

Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome

artículo científico publicado en 2014

Rett syndrome: the complex nature of a monogenic disease

artículo científico publicado en 2003

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

artículo científico publicado en 2013

The Italian XLMR bank: a clinical and molecular database

artículo científico publicado en 2007

The XLMR gene ACSL4 plays a role in dendritic spine architecture

scientific journal article

Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

artículo científico publicado en 2004

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

article

Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome

artículo científico publicado en 2017

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance

artículo científico publicado en 2019

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls

artículo científico publicado en 2009

Vav1 Haploinsufficiency in a Common Variable Immunodeficiency Patient with Defective T-Cell Function

artículo científico publicado en 2012

Visual impairment in FOXG1-mutated individuals and mice

artículo científico publicado en 2016

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

artículo científico publicado en 2012

iPS cells to model CDKL5-related disorders.

artículo científico publicado en 2011

iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome

artículo científico publicado en 2018

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma

scientific article published on 04 August 2011

Lista de obras de Francesca Ariani

"Omic" Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.

A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

Advances in Alport syndrome diagnosis using next-generation sequencing

Alport syndrome: impact of digenic inheritance in patients management.

Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice

Array comparative genomic hybridization in retinoma and retinoblastoma tissues

Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

Efficacy and safety of moxifloxacin in acute exacerbations of chronic bronchitis and COPD: a systematic review and meta-analysis

Epigenetic and Copy Number Variation Analysis in Retinoblastoma by MS-MLPA ⬇️

Erratum: Investigation of modifier genes within copy number variations in Rett syndrome

Evidence of digenic inheritance in Alport syndrome.

Evidence of predisposing epimutation in retinoblastoma

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association

Expert consensus guidelines for the genetic diagnosis of Alport syndrome

Exploiting the potential of next-generation sequencing in genomic medicine

FOXG1 is responsible for the congenital variant of Rett syndrome

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease

Genomic differences between retinoma and retinoblastoma

Germline mosaicism in Rett syndrome identified by prenatal diagnosis

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice

Italian Rett database and biobank.

MECP2 deletions and genotype-phenotype correlation in Rett syndrome

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

Non-collagen genes role in digenic Alport syndrome

Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients

Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma.

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

Private inherited microdeletion/microduplications: implications in clinical practice.

RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome

Rett syndrome: the complex nature of a monogenic disease

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

The Italian XLMR bank: a clinical and molecular database

The XLMR gene ACSL4 plays a role in dendritic spine architecture

Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls

Vav1 Haploinsufficiency in a Common Variable Immunodeficiency Patient with Defective T-Cell Function

Visual impairment in FOXG1-mutated individuals and mice

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

iPS cells to model CDKL5-related disorders.

iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma