Lista de obras - Francesca Lepri - Dominio Público Uruguay

A restricted spectrum of NRAS mutations causes Noonan syndrome

artículo científico publicado en 2010

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot

artículo científico publicado en 2012

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

artículo científico publicado en 2017

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

artículo científico publicado en 2015

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

artículo científico publicado en 2019

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

artículo científico publicado en 2014

Additional evidence thatPTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect

article

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

artículo científico publicado en 2015

Atrioventricular canal defect in patients with RASopathies

artículo científico publicado en 2012

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

artículo científico publicado en 2015

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

artículo científico publicado en 2015

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

artículo científico publicado en 2017

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

artículo científico publicado en 2021

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes

Clinical presentation and cytokine production abnormalities in a cohort of patients carrying NLRP12 gene variants

artículo científico publicado en 2014

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

artículo científico publicado en 2020

Congenital heart defects in Noonan syndrome and RIT1 mutation

artículo científico publicado en 2016

Congenital heart defects in molecularly proven Kabuki syndrome patients.

artículo científico publicado en 2017

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

artículo científico

Corneal arcus as first sign of familial hypercholesterolemia

artículo científico publicado en 2013

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

artículo científico publicado en 2012

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

artículo científico publicado en 2014

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

artículo científico publicado en 2011

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

artículo científico publicado en 2007

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

artículo científico publicado en 2006

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

artículo científico publicado en 2009

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

artículo científico publicado en 2010

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

artículo científico publicado en 2018

Hyperthrophic cardiomyopathy and thePTPN11 gene

article

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary

scientific article published on 16 April 2019

Inflammatory Cytokine response in a cohort of patients carrying novel NLRP12 variants.

artículo científico publicado en 2015

JAG1Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot

scientific article published on 16 August 2013

KBG syndrome: Common and uncommon clinical features based on 31 new patients

artículo científico publicado en 2020

Kabuki syndrome: clinical and molecular diagnosis in the first year of life

artículo científico

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

artículo científico publicado en 2018

Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature

scientific article published on 12 August 2020

Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor

artículo científico publicado en 2015

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

artículo científico publicado en 2015

Molecular analysis ofPRKAG2,LAMP2, andNKX2-5genes in a cohort of 125 patients with accessory atrioventricular connection

article

Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease

artículo científico publicado en 2010

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

artículo científico publicado en 2009

Neurobehavioral features in individuals with Kabuki syndrome.

artículo científico publicado en 2018

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

artículo científico publicado en 2011

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome

scientific article published on 09 December 2019

Novel Mutations and Unreported Clinical Features in KBG Syndrome

scientific article published on 15 January 2019

Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism

artículo científico publicado en 2018

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

artículo científico publicado en 2019

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11

scientific article published on 08 August 2018

Providing more evidence on LZTR1 variants in Noonan syndrome patients

scientific article published on 11 December 2019

RASopathies: Clinical Diagnosis in the First Year of Life

artículo científico publicado en 2011

RECURRENT PRENATAL PIEZO1-RELATED LYMPHATIC DYSPLASIA: EXPANDING MOLECULAR AND ULTRASOUND FINDINGS

artículo científico publicado en 2020

SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review

artículo científico publicado en 2019

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

artículo científico publicado en 2011

Single center experience in Next Generation Sequencing for genetic diagnosis of Autoinflammatory Disorders (AIDs).

artículo científico publicado en 2015

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations

artículo científico publicado en 2009

Spinal ependymoma in a patient with Kabuki syndrome: a case report

artículo científico publicado en 2015

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

scientific journal article

Telomere shortening and telomere position effect in mild ring 17 syndrome

artículo científico publicado en 2014

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

artículo científico publicado en 2020

Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates.

artículo científico publicado en 2013

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

scientific article published on 27 March 2019

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

scientific article published on 12 August 2020

Lista de obras de Francesca Lepri

A restricted spectrum of NRAS mutations causes Noonan syndrome

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Additional evidence thatPTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

Atrioventricular canal defect in patients with RASopathies

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes

Clinical presentation and cytokine production abnormalities in a cohort of patients carrying NLRP12 gene variants

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

Congenital heart defects in Noonan syndrome and RIT1 mutation

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

Corneal arcus as first sign of familial hypercholesterolemia

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Hyperthrophic cardiomyopathy and thePTPN11 gene

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary

Inflammatory Cytokine response in a cohort of patients carrying novel NLRP12 variants.

JAG1Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot

KBG syndrome: Common and uncommon clinical features based on 31 new patients

Kabuki syndrome: clinical and molecular diagnosis in the first year of life

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature

Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

Molecular analysis ofPRKAG2,LAMP2, andNKX2-5genes in a cohort of 125 patients with accessory atrioventricular connection

Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Neurobehavioral features in individuals with Kabuki syndrome.

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome

Novel Mutations and Unreported Clinical Features in KBG Syndrome

Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11

Providing more evidence on LZTR1 variants in Noonan syndrome patients

RASopathies: Clinical Diagnosis in the First Year of Life

RECURRENT PRENATAL PIEZO1-RELATED LYMPHATIC DYSPLASIA: EXPANDING MOLECULAR AND ULTRASOUND FINDINGS

SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Single center experience in Next Generation Sequencing for genetic diagnosis of Autoinflammatory Disorders (AIDs).

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations

Spinal ependymoma in a patient with Kabuki syndrome: a case report

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Telomere shortening and telomere position effect in mild ring 17 syndrome

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates.

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications