Lista de obras - Nicola Brunetti-Pierri - Dominio Público Uruguay

15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.

artículo científico publicado en 2008

30-year follow-up of a patient with classic citrullinemia

artículo científico publicado en 2012

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

artículo científico publicado en 2013

A pilot clinical trial with losartan in Myhre syndrome

artículo científico publicado en 2020

A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement.

artículo científico publicado en 2006

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

artículo científico publicado en 2020

Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates.

artículo científico publicado en 2004

Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia

scientific article published on 19 February 2019

Assessment of bone mineral status in children with Marfan syndrome.

artículo científico publicado en 2012

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

artículo científico publicado en 2020

Autophagy master regulator TFEB induces clearance of toxic SERPINA1/α-1-antitrypsin polymers

artículo científico publicado en 2013

Autosomal Dominant Ménétrier-like Disease

artículo científico publicado en 2012

Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders

artículo científico publicado en 2020

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

artículo científico publicado en 2021

Bioengineered factor IX molecules with increased catalytic activity improve the therapeutic index of gene therapy vectors for hemophilia B

artículo científico publicado en 2009

Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis

artículo científico publicado en 2008

CHOP and c-JUN upregulate the mutant Z alpha-1 antitrypsin, exacerbating its aggregation and liver proteotoxicity

artículo científico publicado en 2020

Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder

scientific article published on 06 February 2020

Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.

artículo científico publicado en 2007

Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.

artículo científico publicado en 2005

Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder

scientific article published on 01 January 2014

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

artículo científico publicado en 2007

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

artículo científico publicado en 2010

Correction of hyperbilirubinemia in gunn rats by surgical delivery of low doses of helper-dependent adenoviral vectors

artículo científico publicado en 2014

Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors

artículo científico publicado en 2011

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

artículo científico publicado en 2011

Cystic fibrosis: A disorder with defective autophagy

artículo científico publicado en 2011

DUF1220-domain copy number implicated in human brain-size pathology and evolution

artículo científico publicado en 2012

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

artículo científico publicado en 2020

Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition

artículo científico publicado en 2010

Differential inhibition of PDKs by phenylbutyrate and enhancement of pyruvate dehydrogenase complex activity by combination with dichloroacetate

artículo científico publicado en 2015

Dilation of the aortic root in mitochondrial disease patients

article

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

artículo científico publicado en 2022

Expansion of the phenotype of lateral meningocele syndrome

artículo científico publicado en 2020

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

artículo científico publicado en 2020

Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome?

artículo científico publicado en 2012

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

artículo científico publicado en 2008

Gene therapy for inborn errors of liver metabolism.

artículo científico publicado en 2005

Gene therapy for inherited diseases of liver metabolism.

artículo científico

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency

artículo científico publicado en 2013

Generalized metabolic bone disease in Neurofibromatosis type I

artículo científico publicado en 2008

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

artículo científico publicado en 2013

Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency?

artículo científico publicado en 2007

Guidelines for the use and interpretation of assays for monitoring autophagy

artículo científico publicado en 2012

Helper-dependent adenoviral vectors for liver-directed gene therapy.

artículo científico publicado en 2011

Hepatic glutamine synthetase augmentation enhances ammonia detoxification

artículo científico publicado en 2019

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

artículo científico publicado en 2013

Identification of small molecules enhancing autophagic function from drug network analysis

artículo científico publicado en 2010

Identification of small molecules enhancing autophagic function from drug network analysis

article

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4

artículo científico publicado en 2003

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats

artículo científico publicado en 2013

Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primates.

artículo científico publicado en 2006

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene

artículo científico publicado en 2005

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in theDAX-1 gene

article

Inborn errors of metabolism: the flux from Mendelian to complex diseases.

artículo científico publicado en 2006

Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors.

artículo científico publicado en 2005

Intrathecal Injection of Helper-Dependent Adenoviral Vectors Results in Long-Term Transgene Expression in Neuroependymal Cells and Neurons ⬇️

artículo científico publicado el 18 de marzo de 2011

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis

artículo científico publicado en 2007

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Liver-directed gene-based therapies for inborn errors of metabolism

artículo científico publicado en 2020

Long-term follow-up of an individual with ITPR1-related disorder

artículo científico publicado en 2020

Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease

artículo científico publicado en 2013

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

artículo científico publicado en 2019

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

artículo científico publicado en 2008

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

artículo científico publicado en 2007

MyD88-dependent silencing of transgene expression during the innate and adaptive immune response to helper-dependent adenovirus.

artículo científico publicado en 2010

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.

artículo científico publicado en 2002

Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock

scientific article published on 24 May 2019

Parkes Weber syndrome occurring in a family with capillary malformations

artículo científico publicado en 2007

Phenylbutyrate therapy for maple syrup urine disease ⬇️

artículo científico publicado el 23 de noviembre de 2010

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

artículo científico publicado en 2015

Progress and challenges in development of new therapies for urea cycle disorders

scientific article published on 01 October 2019

Progress and prospects: gene therapy for genetic diseases with helper-dependent adenoviral vectors.

artículo científico publicado en 2008

Progress towards liver and lung-directed gene therapy with helper-dependent adenoviral vectors

scientific article published on October 2009

Progressive myopathy with multiple symmetric lipomatosis

artículo científico publicado en 2009

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

artículo científico publicado en 2013

Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI.

artículo científico publicado en 2008

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

artículo científico publicado en 2008

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

artículo científico publicado en 2020

Reply to Amor et al.

artículo científico publicado en 2012

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

artículo científico publicado en 2019

Retinal transduction profiles by high-capacity viral vectors

artículo científico publicado en 2014

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation

artículo científico publicado en 2008

Rubinstein-Taybi syndrome in diverse populations

scientific article published on 27 September 2020

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

artículo científico publicado en 2014

SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors

artículo científico publicado en 2013

SR-A and SREC-I binding peptides increase HDAd-mediated liver transduction.

artículo científico publicado en 2014

Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene

artículo científico publicado en 2008

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

scientific article published on 06 May 2019

Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector.

artículo científico publicado en 2009

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

artículo científico publicado en 2019

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

artículo científico publicado en 2007

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

artículo científico publicado en 2008

Targeting autophagy for therapy of hyperammonemia

artículo científico publicado en 2018

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.

artículo científico publicado en 2010

Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors.

artículo científico publicado en 2007

Transcriptional gene network inference from a massive dataset elucidates transcriptome organization and gene function.

artículo científico publicado en 2011

Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad.

artículo científico publicado en 2010

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.

artículo científico publicado en 2012

Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis.

artículo científico publicado en 2014

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

artículo científico publicado en 1997

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

artículo científico publicado en 2015

Lista de obras de Nicola Brunetti-Pierri

15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.

30-year follow-up of a patient with classic citrullinemia

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

A pilot clinical trial with losartan in Myhre syndrome

A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement.

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates.

Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia

Assessment of bone mineral status in children with Marfan syndrome.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Autophagy master regulator TFEB induces clearance of toxic SERPINA1/α-1-antitrypsin polymers

Autosomal Dominant Ménétrier-like Disease

Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

Bioengineered factor IX molecules with increased catalytic activity improve the therapeutic index of gene therapy vectors for hemophilia B

Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis

CHOP and c-JUN upregulate the mutant Z alpha-1 antitrypsin, exacerbating its aggregation and liver proteotoxicity

Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder

Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.

Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.

Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

Correction of hyperbilirubinemia in gunn rats by surgical delivery of low doses of helper-dependent adenoviral vectors

Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

Cystic fibrosis: A disorder with defective autophagy

DUF1220-domain copy number implicated in human brain-size pathology and evolution

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition

Differential inhibition of PDKs by phenylbutyrate and enhancement of pyruvate dehydrogenase complex activity by combination with dichloroacetate

Dilation of the aortic root in mitochondrial disease patients

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Expansion of the phenotype of lateral meningocele syndrome

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome?

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

Gene therapy for inborn errors of liver metabolism.

Gene therapy for inherited diseases of liver metabolism.

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency

Generalized metabolic bone disease in Neurofibromatosis type I

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency?

Guidelines for the use and interpretation of assays for monitoring autophagy

Helper-dependent adenoviral vectors for liver-directed gene therapy.

Hepatic glutamine synthetase augmentation enhances ammonia detoxification

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

Identification of small molecules enhancing autophagic function from drug network analysis

Identification of small molecules enhancing autophagic function from drug network analysis

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats

Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primates.

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in theDAX-1 gene

Inborn errors of metabolism: the flux from Mendelian to complex diseases.

Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors.

Intrathecal Injection of Helper-Dependent Adenoviral Vectors Results in Long-Term Transgene Expression in Neuroependymal Cells and Neurons ⬇️

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Liver-directed gene-based therapies for inborn errors of metabolism

Long-term follow-up of an individual with ITPR1-related disorder

Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

MyD88-dependent silencing of transgene expression during the innate and adaptive immune response to helper-dependent adenovirus.

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.

Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock

Parkes Weber syndrome occurring in a family with capillary malformations

Phenylbutyrate therapy for maple syrup urine disease ⬇️

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

Progress and challenges in development of new therapies for urea cycle disorders

Progress and prospects: gene therapy for genetic diseases with helper-dependent adenoviral vectors.

Progress towards liver and lung-directed gene therapy with helper-dependent adenoviral vectors

Progressive myopathy with multiple symmetric lipomatosis

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI.