Lista de obras - Antonio Pizzuti - Dominio Público Uruguay

(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

artículo científico publicado en 1993

A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci

scientific article published on 01 March 2002

A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.

artículo científico publicado en 2004

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

artículo científico publicado en 2004

A novel PTPN11 mutation in LEOPARD syndrome.

artículo científico publicado en 2003

A sketch of known and novel MYCN-associated miRNA networks in neuroblastoma.

artículo científico publicado en 2017

A transposon-like element in the deletion-prone region of the dystrophin gene

artículo científico publicado el 1 de julio de 1992

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

article

Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain.

artículo científico publicado en 2006

An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistance.

artículo científico publicado en 2002

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

scientific article published on 02 June 2020

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

artículo científico publicado el 6 de marzo de 1992

An update on the metabolic syndrome's epigenomic risk

artículo científico publicado en 2016

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

artículo científico publicado en 2002

Association of the matrix metalloproteinase-3 (MMP-3) promoter polymorphism with celiac disease in male subjects

artículo científico publicado en 2005

Brain derived neurotrophic factor (BDNF) expression is regulated by microRNAs miR-26a and miR-26b allele-specific binding.

artículo científico publicado en 2011

CRELD1 andGATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects

article

Case report of adult-onset Allgrove syndrome

scientific article published on 01 December 2007

Clinical Significance of MicroRNA Expression Profiles and Polymorphisms in Lung Cancer Development and Management.

artículo científico publicado en 2011

Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

artículo científico publicado en 2013

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

artículo científico publicado en 2004

Clinical features and outcome of familial chronic lymphocytic leukemia.

artículo científico publicado en 2006

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

Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy.

artículo científico publicado en 2009

Comparative Analysis of Real-Time Polymerase Chain Reaction Methods to Typing HLA-B*57:01 in HIV-1-Positive Patients.

artículo científico publicado en 2016

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

artículo científico publicado en 2003

Correspondence

artículo científico publicado en 1997

Crizotinib-induced antitumour activity in human alveolar rhabdomyosarcoma cells is not solely dependent on ALK and MET inhibition

artículo científico publicado en 2015

Cytogenetic mapping of a novel locus for type II Waardenburg syndrome

artículo científico publicado en 2001

Cytotoxic T-lymphocyte antigen 4 (CTLA4) +49AG and CT60 gene polymorphisms in Alopecia Areata: a case-control association study in the Italian population.

artículo científico publicado en 2013

DNMT3B in vitro knocking-down is able to reverse embryonal rhabdomyosarcoma cell phenotype through inhibition of proliferation and induction of myogenic differentiation.

artículo científico publicado en 2016

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

artículo científico publicado en 1993

Deep Sequencing the microRNA profile in rhabdomyosarcoma reveals down-regulation of miR-378 family members

artículo científico publicado en 2014

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

artículo científico publicado en 2019

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

article

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

artículo científico publicado en 1996

Detection of beta-nerve growth factor mRNA in the human fetal brain.

artículo científico publicado en 1990

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

article

Different expression of the myotonin protein kinase gene in discrete areas of human brain.

artículo científico publicado en 1995

Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy.

artículo científico publicado en 2003

Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.

artículo científico publicado en 2011

Effect of nerve growth factor in adrenal autografts in parkinsonism

artículo científico publicado en 1990

Elevated levels of miR-145 correlate with SMAD3 down-regulation in cystic fibrosis patients.

artículo científico publicado en 2013

Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II

scientific article published on 01 April 1999

Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle

scientific article published on 01 February 1993

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.

artículo científico publicado en 2003

Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

article

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer

artículo científico publicado en 2007

From Nuremberg to bioethics: an educational project for students of dentistry and dental prosthesis

artículo científico publicado en 2013

Functional analysis of splicing mutations in exon 7 of NF1 gene

artículo científico publicado en 2007

Genetic association of HLA-DQB1 and HLA-DRB1 polymorphisms with alopecia areata in the Italian population

artículo científico publicado en 2011

Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia

artículo científico publicado en 2010

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

artículo científico publicado en 2006

Giant scrotal elephantiasis: an idiopathic case

scientific article published on 01 January 2010

HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing

artículo científico publicado en 2012

Hepatitis G virus infection in hemodialysis patients.

artículo científico publicado en 1997

Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci

High prevalence of epilepsy in a village in the Littoral Province of Cameroon

artículo científico publicado en 2008

How many breaks do we need to CATCH on 22q11?

artículo científico publicado en 1996

Human NRD convertase: a highly conserved metalloendopeptidase expressed at specific sites during development and in adult tissues

artículo científico publicado en 1998

Human developing motor neurons as a tool to study ALS.

artículo científico publicado en 2001

Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome

artículo científico publicado en 1996

Human neuronal cells in culture: from concepts to basic methodology.

artículo científico publicado en 1990

Human substantia nigra in vitro as a bioassay for neurotrophic molecules of clinical significance.

artículo científico publicado en 1996

Hyperthrophic cardiomyopathy and thePTPN11 gene

article

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

artículo científico publicado en 1991

Identification of multiple transcribed sequences from the spinal muscular atrophy region of human chromosome 5.

artículo científico publicado en 1995

Immunogenetic investigation in vernal keratoconjunctivitis

artículo científico publicado en 2014

Immunomagnetic isolation of human developing motor neurons

artículo científico publicado en 1998

Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection.

artículo científico publicado en 1994

LGI1 gene mutation screening in sporadic partial epilepsy with auditory features

article

Lack of association between serotonin transporter 5-HTT gene polymorphism and endometriosis in an Italian patient population ⬇️

artículo científico publicado en 2014

Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

scientific journal article

MRI and US in the evaluation of fetal anomalies: The need to work together

artículo científico publicado en 2017

Maintained cellular function of adrenal medullary cells in parkinsonian dysautonomia

artículo científico publicado el 1 de julio de 1991

Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta-analysis

scientific article published on 31 October 2018

Mitochondrial disfunction as a cause of ALS.

scientific article published on March 2011

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy

article

Molecules with neurotrophic effects on the human developing mesencephalic dopaminergic neurons

artículo científico publicado en 1995

Motor neurone metabolism.

artículo científico publicado en 1999

Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.

artículo científico publicado en 2004

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

artículo científico publicado en 2015

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

artículo científico publicado en 2003

Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

article

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

artículo científico publicado en 2005

NGF-response of EGF-dependent progenitor cells obtained from human sympathetic ganglia

scientific article published on 01 October 1994

Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb

scientific article published on 01 May 2000

Neurocognitive effects of methylphenidate on ADHD children with different DAT genotypes: a longitudinal open label trial.

artículo científico publicado en 2013

Nonsyndromic pulmonary valve stenosis and the PTPN11 gene

artículo científico publicado en 2003

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

article

Novel SMAD4 mutation causing Myhre syndrome

artículo científico publicado en 2014

Pentanucleotide repeat length polymorphism at the human CD4 locus.

artículo científico publicado en 1991

Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis

artículo científico publicado en 2016

Pharmacological targeting of the ephrin receptor kinase signalling by GLPG1790 in vitro and in vivo reverts oncophenotype, induces myogenic differentiation and radiosensitizes embryonal rhabdomyosarcoma cells.

artículo científico publicado en 2017

Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR

artículo científico publicado en 1992

Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm

artículo científico publicado en 1995

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats

artículo científico publicado en 1996

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings.

artículo científico

Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome

artículo científico publicado en 2021

Quantification of small non-coding RNAs allows an accurate comparison of miRNA expression profiles.

scientific article published on September 2009

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

artículo científico publicado en 2016

Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study.

artículo científico publicado en 2016

Role of peroxisome proliferator-activated receptor gamma in amyloid precursor protein processing and amyloid beta-mediated cell death.

artículo científico publicado en 2005

SMT3A, a human homologue of the S. cerevisiae SMT3 gene, maps to chromosome 21qter and defines a novel gene family

artículo científico publicado en 1997

Screening of Thyrotropin Receptor Mutations by Fine-Needle Aspiration Biopsy in Autonomous Functioning Thyroid Nodules in Multinodular Goiters

scientific article published on 01 April 1999

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

artículo científico publicado en 2003

Single nucleotide polymorphisms in the promoter regions of Foxp3 and ICOSLG genes are associated with Alopecia areata

scientific article published on 30 November 2012

Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).

artículo científico publicado en 1998

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

artículo científico publicado en 1995

Synergistic post-transcriptional regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 specific binding

artículo científico publicado en 2011

TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells.

artículo científico publicado en 2012

The K121Q variant of the human PC-1 gene is not associated with insulin resistance or type 2 diabetes among Danish Caucasians.

artículo científico publicado en 2000

The emerging role of MicroRNA in schizophrenia.

artículo científico publicado en 2015

The use of piezosurgery in cranial surgery in children.

artículo científico publicado en 2015

Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency

artículo científico publicado en 2010

Triplet repeat mutations in human disease

artículo científico publicado el 8 de mayo de 1992

Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome

scientific article published on 01 September 2010

Unravelling the complexity of T cell abnormalities in common variable immunodeficiency.

artículo científico publicado en 2007

Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.

artículo científico publicado en 2017

Update in non invasive prenatal testing

article

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox ⬇️

artículo científico publicado el 20 de diciembre de 1991

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

artículo científico publicado en 2018

ZFPM2/FOG2 andHEY2 genes analysis in nonsyndromic tricuspid atresia

article

cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene

artículo científico publicado en 1996

Lista de obras de Antonio Pizzuti

(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci

A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

A novel PTPN11 mutation in LEOPARD syndrome.

A sketch of known and novel MYCN-associated miRNA networks in neuroblastoma.

A transposon-like element in the deletion-prone region of the dystrophin gene

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

Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain.

An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistance.

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

An update on the metabolic syndrome's epigenomic risk

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

Association of the matrix metalloproteinase-3 (MMP-3) promoter polymorphism with celiac disease in male subjects

Brain derived neurotrophic factor (BDNF) expression is regulated by microRNAs miR-26a and miR-26b allele-specific binding.

CRELD1 andGATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects

Case report of adult-onset Allgrove syndrome

Clinical Significance of MicroRNA Expression Profiles and Polymorphisms in Lung Cancer Development and Management.

Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

Clinical features and outcome of familial chronic lymphocytic leukemia.

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

Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy.

Comparative Analysis of Real-Time Polymerase Chain Reaction Methods to Typing HLA-B*57:01 in HIV-1-Positive Patients.

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

Correspondence

Crizotinib-induced antitumour activity in human alveolar rhabdomyosarcoma cells is not solely dependent on ALK and MET inhibition

Cytogenetic mapping of a novel locus for type II Waardenburg syndrome

Cytotoxic T-lymphocyte antigen 4 (CTLA4) +49AG and CT60 gene polymorphisms in Alopecia Areata: a case-control association study in the Italian population.

DNMT3B in vitro knocking-down is able to reverse embryonal rhabdomyosarcoma cell phenotype through inhibition of proliferation and induction of myogenic differentiation.

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

Deep Sequencing the microRNA profile in rhabdomyosarcoma reveals down-regulation of miR-378 family members

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

Detection of beta-nerve growth factor mRNA in the human fetal brain.

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

Different expression of the myotonin protein kinase gene in discrete areas of human brain.

Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy.

Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.

Effect of nerve growth factor in adrenal autografts in parkinsonism

Elevated levels of miR-145 correlate with SMAD3 down-regulation in cystic fibrosis patients.

Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II

Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.

Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer

From Nuremberg to bioethics: an educational project for students of dentistry and dental prosthesis

Functional analysis of splicing mutations in exon 7 of NF1 gene

Genetic association of HLA-DQB1 and HLA-DRB1 polymorphisms with alopecia areata in the Italian population

Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

Giant scrotal elephantiasis: an idiopathic case

HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing

Hepatitis G virus infection in hemodialysis patients.

Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci

High prevalence of epilepsy in a village in the Littoral Province of Cameroon

How many breaks do we need to CATCH on 22q11?

Human NRD convertase: a highly conserved metalloendopeptidase expressed at specific sites during development and in adult tissues

Human developing motor neurons as a tool to study ALS.

Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome

Human neuronal cells in culture: from concepts to basic methodology.

Human substantia nigra in vitro as a bioassay for neurotrophic molecules of clinical significance.

Hyperthrophic cardiomyopathy and thePTPN11 gene

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Identification of multiple transcribed sequences from the spinal muscular atrophy region of human chromosome 5.

Immunogenetic investigation in vernal keratoconjunctivitis

Immunomagnetic isolation of human developing motor neurons

Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection.

LGI1 gene mutation screening in sporadic partial epilepsy with auditory features

Lack of association between serotonin transporter 5-HTT gene polymorphism and endometriosis in an Italian patient population ⬇️

Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients.

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

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

MRI and US in the evaluation of fetal anomalies: The need to work together

Maintained cellular function of adrenal medullary cells in parkinsonian dysautonomia

Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta-analysis

Mitochondrial disfunction as a cause of ALS.