Lista de obras - Andrea Ciolfi - Dominio Público Uruguay

A novel regulatory circuit underlying plant response to canopy shade.

artículo científico publicado en 2008

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

artículo científico publicado en 2012

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

scientific journal article

Canopy shade causes a rapid and transient arrest in leaf development through auxin-induced cytokinin oxidase activity.

artículo científico publicado en 2007

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

scientific article published on 26 February 2014

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation

artículo científico publicado en 2017

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

artículo científico publicado en 2018

Dynamics of the shade-avoidance response in Arabidopsis.

artículo científico publicado en 2013

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

artículo científico publicado en 2016

Expanding the histopathological spectrum of CFL2-related myopathies.

artículo científico publicado en 2018

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients

artículo científico publicado en 2017

Identification of a novel cis-regulatory element for UV-B-induced transcription in Arabidopsis

artículo científico publicado en 2008

Integrin α7 Is a Functional Marker and Potential Therapeutic Target in Glioblastoma

artículo científico publicado en 2017

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

artículo científico publicado en 2013

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

artículo científico publicado en 2015

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

artículo científico publicado en 2017

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

artículo científico publicado en 2015

Mutations in ZBTB20 cause Primrose syndrome

artículo científico publicado en 2014

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

artículo científico publicado en 2017

Novel SEC61G-EGFR Fusion Gene in Pediatric Ependymomas Discovered by Clonal Expansion of Stem Cells in Absence of Exogenous Mitogens.

artículo científico publicado en 2017

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

artículo científico publicado en 2015

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

scientific article published on 15 October 2018

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

The emerging role of MicroRNA in schizophrenia.

artículo científico publicado en 2015

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

artículo científico publicado en 2018

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

artículo científico publicado en 2018

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

artículo científico publicado en 2016

Lista de obras de Andrea Ciolfi

A novel regulatory circuit underlying plant response to canopy shade.

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

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

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

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

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Canopy shade causes a rapid and transient arrest in leaf development through auxin-induced cytokinin oxidase activity.

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Dynamics of the shade-avoidance response in Arabidopsis.

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Expanding the histopathological spectrum of CFL2-related myopathies.

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients

Identification of a novel cis-regulatory element for UV-B-induced transcription in Arabidopsis

Integrin α7 Is a Functional Marker and Potential Therapeutic Target in Glioblastoma

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

Mutations in ZBTB20 cause Primrose syndrome

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Novel SEC61G-EGFR Fusion Gene in Pediatric Ependymomas Discovered by Clonal Expansion of Stem Cells in Absence of Exogenous Mitogens.

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

The emerging role of MicroRNA in schizophrenia.

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples