Lista de obras - Stefano Gambardella - Dominio Público Uruguay

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).

artículo científico publicado en 2016

A fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01.

artículo científico publicado en 2010

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset

artículo científico publicado en 2020

Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

artículo científico publicado en 2017

Bone marrow and umbilical cord blood human mesenchymal stem cells: state of the art

artículo científico publicado en 2010

Denaturing HPLC in laboratory diagnosis of hereditary angioedema

artículo científico publicado en 2007

Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.

artículo científico publicado en 2010

Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01.

artículo científico publicado en 2014

Epigenetic Effects Induced by Methamphetamine and Methamphetamine-Dependent Oxidative Stress

artículo científico publicado en 2018

Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease"

artículo científico publicado en 2018

Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings.

artículo científico publicado en 2015

Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.

artículo científico publicado en 2007

Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays

scientific article published on 01 January 2004

Gene symbol: ED1. Disease: X-linked anhidrotic ectodermal dysplasia.

artículo científico publicado en 2008

Gene symbol: ED1. Disease: Ectodermal dysplasia

artículo científico publicado en 2008

Gene symbol: ED1. Disease: Ectodermal dysplasia

scientific article published on 01 February 2008

Gene symbol: ED1. Disease: Ectodermal dysplasia

artículo científico publicado en 2008

Gonadal mosaicism in hereditary angioedema

scientific article published on 01 July 2006

Loud Noise Exposure Produces DNA, Neurotransmitter and Morphological Damage within Specific Brain Areas.

artículo científico publicado en 2017

Methamphetamine increases Prion Protein and induces dopamine-dependent expression of protease resistant PrPsc.

artículo científico publicado en 2017

Methamphetamine persistently increases alpha-synuclein and suppresses gene promoter methylation within striatal neurons

artículo científico publicado en 2019

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease

artículo científico publicado en 2018

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

artículo científico publicado en 2004

Neurons other than motor neurons in motor neuron disease

artículo científico publicado en 2017

New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?

artículo científico publicado en 2010

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

artículo científico publicado en 2011

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

artículo científico publicado en 2010

PCR-based approach for qualitative molecular analysis of six neurotropic pathogens

artículo científico publicado en 2017

Phenotypic Variability in a Family With Pancreatitis and Cystic Fibrosis Sharing Common Mild CFTR Mutation

artículo científico publicado en 2009

Rapamycin promotes differentiation increasing βIII-tubulin, NeuN, and NeuroD while suppressing nestin expression in glioblastoma cells

artículo científico publicado en 2017

Screening of EDA1 Gene in X-Linked Anhidrotic Ectodermal Dysplasia Using DHPLC: Identification of 14 Novel Mutations in Italian Patients

article

Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism

artículo científico publicado en 2004

Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.

artículo científico publicado en 2017

The Autophagoproteasome a Novel Cell Clearing Organelle in Baseline and Stimulated Conditions.

artículo científico publicado en 2016

The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity.

artículo científico publicado en 2017

The etiology of acute recurrent pancreatitis in children: a challenge for pediatricians

artículo científico publicado en 2011

Toward the pharmacogenomics of cystic fibrosis--an update.

artículo científico publicado en 2004

Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.

artículo científico publicado en 2015

Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease

artículo científico publicado en 2016

Variations of inflammatory mediators and alpha1-antitrypsin levels after lung volume reduction surgery for emphysema.

artículo científico publicado en 2010

mTOR-Dependent Cell Proliferation in the Brain.

artículo científico publicado en 2017

Lista de obras de Stefano Gambardella

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).

A fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01.

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset

Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

Bone marrow and umbilical cord blood human mesenchymal stem cells: state of the art

Denaturing HPLC in laboratory diagnosis of hereditary angioedema

Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.

Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01.

Epigenetic Effects Induced by Methamphetamine and Methamphetamine-Dependent Oxidative Stress

Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease"

Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings.

Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.

Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays

Gene symbol: ED1. Disease: X-linked anhidrotic ectodermal dysplasia.

Gene symbol: ED1. Disease: Ectodermal dysplasia

Gene symbol: ED1. Disease: Ectodermal dysplasia

Gene symbol: ED1. Disease: Ectodermal dysplasia

Gonadal mosaicism in hereditary angioedema

Loud Noise Exposure Produces DNA, Neurotransmitter and Morphological Damage within Specific Brain Areas.

Methamphetamine increases Prion Protein and induces dopamine-dependent expression of protease resistant PrPsc.

Methamphetamine persistently increases alpha-synuclein and suppresses gene promoter methylation within striatal neurons

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

Neurons other than motor neurons in motor neuron disease

New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

PCR-based approach for qualitative molecular analysis of six neurotropic pathogens

Phenotypic Variability in a Family With Pancreatitis and Cystic Fibrosis Sharing Common Mild CFTR Mutation

Rapamycin promotes differentiation increasing βIII-tubulin, NeuN, and NeuroD while suppressing nestin expression in glioblastoma cells

Screening of EDA1 Gene in X-Linked Anhidrotic Ectodermal Dysplasia Using DHPLC: Identification of 14 Novel Mutations in Italian Patients

Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism

Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.

The Autophagoproteasome a Novel Cell Clearing Organelle in Baseline and Stimulated Conditions.

The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity.

The etiology of acute recurrent pancreatitis in children: a challenge for pediatricians

Toward the pharmacogenomics of cystic fibrosis--an update.

Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.

Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease

Variations of inflammatory mediators and alpha1-antitrypsin levels after lung volume reduction surgery for emphysema.

mTOR-Dependent Cell Proliferation in the Brain.