Lista de obras - Francesca Mari - Dominio Público Uruguay

"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014

article

13q deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins

artículo científico publicado en 2012

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

artículo científico publicado en 2009

2q24-q31 deletion: report of a case and review of the literature

artículo científico publicado en 2006

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

9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?

artículo científico publicado en 2013

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 comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

artículo científico publicado en 2013

A first update on mapping the human genetic architecture of COVID-19

artículo científico publicado en 2022

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

article

A unique patient presenting with concomitant Klinefelter syndrome, Alport syndrome, and craniopharyngioma.

artículo científico publicado en 2012

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

artículo científico publicado en 2020

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

Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation

scientific article published on 22 December 2010

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

artículo científico publicado en 2010

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

Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation

artículo científico publicado en 2013

Analysis of the Phenotypes in the Rett Networked Database

scientific article published on 27 March 2019

Array comparative genomic hybridization in retinoma and retinoblastoma tissues

artículo científico publicado en 2009

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

artículo científico publicado en 2009

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

artículo científico publicado en 2005

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene

artículo científico publicado en 2004

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

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

artículo científico publicado en 2002

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 COVID-19 hospitalized patients

artículo científico publicado en 2020

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

artículo científico publicado en 2007

Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.

artículo científico publicado en 2007

Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability

artículo científico publicado en 2014

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses

artículo científico publicado en 2016

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

artículo científico publicado en 2021

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

artículo científico publicado en 2011

Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.

artículo científico publicado en 2011

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

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

artículo científico publicado en 2013

Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification

artículo científico publicado en 2003

EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome.

artículo científico publicado en 2010

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

artículo científico publicado en 2009

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype

artículo científico publicado en 2013

Epilepsy in Rett syndrome--lessons from the Rett networked database

artículo científico publicado en 2015

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 coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

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

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

artículo científico publicado en 2022

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

scientific article published on 13 December 2011

Expert consensus guidelines for the genetic diagnosis of Alport syndrome

FOXG1 is responsible for the congenital variant of Rett syndrome

artículo científico publicado en 2008

Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas

article

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

article published in 2011

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

artículo científico publicado en 2007

Genetics and mechanisms of disease in Rett syndrome

article

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

Huntington's disease gene expansion associates with early onset nonprogressive chorea

artículo científico publicado en 2013

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies

artículo científico publicado en 2005

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

artículo científico publicado en 2014

Italian Rett database and biobank.

artículo científico publicado en 2007

Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family.

artículo científico publicado en 2009

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

Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.

artículo científico publicado en 2004

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

artículo científico publicado en 2009

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

artículo científico publicado en 2006

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

artículo científico publicado en 2015

Nicolaides-Baraitser syndrome: defining a phenotype

artículo científico publicado en 2016

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

Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families

artículo científico publicado en 2003

Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA

artículo científico publicado en 2014

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

artículo científico publicado en 2001

Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy.

artículo científico publicado en 2017

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

artículo científico publicado en 2018

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

artículo científico publicado en 2007

Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy

artículo científico publicado en 2011

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

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

artículo científico publicado en 2018

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

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

artículo científico publicado en 2009

Response to Phelan K. et al.: Letter to the Editor Regarding Disciglio et al: Interstitial 22q13 deletions not involvingSHANK3gene: A new contiguous gene syndrome

article

Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.

artículo científico publicado en 2007

Rett networked database: an integrated clinical and genetic network of Rett syndrome databases

artículo científico publicado en 2012

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

Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome

artículo científico publicado en 2005

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles

artículo científico publicado en 2004

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology

scientific article published on 09 October 2015

Study of MECP2 gene in Rett syndrome variants and autistic girls.

artículo científico publicado en 2003

Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.

artículo científico publicado en 2010

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

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

artículo científico publicado en 2013

Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group

article

Triorchidism: genetic and imaging evaluation in an adult male

artículo científico publicado en 2014

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

article

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

Lista de obras de Francesca Mari

"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014

13q deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

2q24-q31 deletion: report of a case and review of the literature

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

9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?

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 comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

A first update on mapping the human genetic architecture of COVID-19

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

A unique patient presenting with concomitant Klinefelter syndrome, Alport syndrome, and craniopharyngioma.

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

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

Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

Alport syndrome: impact of digenic inheritance in patients management.

Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice

Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation

Analysis of the Phenotypes in the Rett Networked Database

Array comparative genomic hybridization in retinoma and retinoblastoma tissues

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene

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

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

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

Clinical and molecular characterization of COVID-19 hospitalized patients

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

Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.

Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.

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).

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification

EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome.

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

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype

Epilepsy in Rett syndrome--lessons from the Rett networked database

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 coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

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

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

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

Expert consensus guidelines for the genetic diagnosis of Alport syndrome

FOXG1 is responsible for the congenital variant of Rett syndrome

Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

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

Genetics and mechanisms of disease in Rett syndrome

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.

Huntington's disease gene expansion associates with early onset nonprogressive chorea

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

Italian Rett database and biobank.

Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family.

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

Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

Nicolaides-Baraitser syndrome: defining a phenotype

Non-collagen genes role in digenic Alport syndrome