Lista de obras - Silvana Penco - Dominio Público Uruguay

A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas.

artículo científico publicado en 2015

A Novel Mathematical Approach to Define the Genes/SNPs Conferring Risk or Protection in Sporadic Amyotrophic Lateral Sclerosis Based on Auto Contractive Map Neural Networks and Graph Theory

artículo científico publicado en 2012

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2013

A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency

artículo científico publicado en 2016

A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of κ light chains

artículo científico publicado en 2007

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

artículo científico publicado en 2015

Acquired lecithin:cholesterol acyltransferase deficiency as a major factor in lowering plasma HDL levels in chronic kidney disease

artículo científico publicado en 2014

Amyotrophic lateral sclerosis in pregnancy is associated with a vascular endothelial growth factor promoter genotype

artículo científico publicado en 2014

An upstream negative regulatory element in human granulocyte-macrophage colony-stimulating factor promoter is recognised by AP1 family members.

artículo científico publicado en 1998

Assessment of the role of genetic polymorphism in venous thrombosis through artificial neural networks.

artículo científico publicado en 2005

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

artículo científico publicado en 2012

CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations.

artículo científico publicado en 2016

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

artículo científico publicado en 2015

Cavernous malformation of the optic nerve mimicking optic neuritis

artículo científico publicado en 2010

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure.

artículo científico publicado en 2013

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

artículo científico publicado en 2016

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

artículo científico publicado en 2012

Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation

artículo científico publicado en 2007

Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study

artículo científico publicado en 2012

Corrigendum to “Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort” [GENE 568/2 (2015) 186–189]

article

Cutaneous venous malformations related to KRIT1 mutation: case report and literature review.

artículo científico publicado en 2013

Cyclic tetramers from 3,5- disubstituted 4-hydroxybenzenesulfonyl chlorides. Their synthesis and characterization

De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations

article

Detection of the first OCA6 Italian patient in a large cohort of albino subjects

article

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations

article

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

article

Does Down's syndrome support the homocysteine theory of atherogenesis? Experience in elderly subjects with trisomy 21.

artículo científico publicado en 2006

Erratum to “Letter to the Editor – Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations” [J. Dermatol. Sci. 64 (2011) 237–248]

article

Erratum to: Is the SHRPS Strain a Suitable Model of Spontaneous CADASIL?

scholarly article published in Journal of Molecular Neuroscience

Factors affecting formation and rupture of intracranial saccular aneurysms

artículo científico publicado en 2013

Familial cerebral cavernous malformation: report of a further Italian family

artículo científico publicado en 2009

Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study

artículo científico publicado en 2003

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

artículo científico publicado en 2013

Genetic Variations Within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation

article

Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management

artículo científico publicado en 2012

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

artículo científico

Genetic variability of the fructosamine 3-kinase gene in diabetic patients

artículo científico publicado en 2011

Glutamate-cysteine ligase polymorphism, hypertension, and male sex are associated with cardiovascular events. Biochemical and genetic characterization of Italian subpopulation

artículo científico publicado en 2007

HFE p.H63D polymorphism does not influence ALS phenotype and survival

artículo científico publicado en 2015

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features

article

INTRAMOLECULAR PARTICIPATION OF THE SULFINYL GROUP IN THE HYDROLYSIS OF THE ESTER FUNCTION OF AN α-PHOSPHORYL SULFOXIDE

Identification of an import signal for, and the nuclear localization of, human lactoferrin.

artículo científico publicado en 2001

Idiopathic recurrent acute pericarditis: familial Mediterranean fever mutations and disease evolution in a large cohort of Caucasian patients

artículo científico publicado en 2005

Is the SHRSP [corrected] strain a suitable model of spontaneous CADASIL?

artículo científico publicado en 2011

Lack of association of PON polymorphisms with sporadic ALS in an Italian population

artículo científico publicado en 2010

Lactoferrin down-modulates the activity of the granulocyte macrophage colony-stimulating factor promoter in interleukin-1 beta-stimulated cells

artículo científico publicado en 1995

Letter by Moccia et al Regarding Article, “Archetypal Arg169Cys Mutation in NOTCH3 Does Not Drive the Pathogenesis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy via a Loss-of-Function Mechanism”

artículo científico publicado en 2014

Letter to Editors Are granular osmiophilic material deposits an epiphenomenon in CADASIL?

Methionine challenge paradoxically induces a greater activation of the antioxidant defence in subjects with hyper- vs. normohomocysteinemia

artículo científico publicado en 2006

Methylenetetrahydrofolate reductase (MTHFR) and breast cancer risk: a nested-case-control study and a pooled meta-analysis

article

Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach

artículo científico publicado en 2009

Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.

artículo científico publicado en 2011

Mutational Screening of NOTCH3 Gene Reveals Two Novel Mutations: Complexity of CADASIL Diagnosis

article

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

article

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

artículo científico publicado en 2011

New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background

artículo científico publicado en 2008

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

article

No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population

article

Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis.

artículo científico publicado en 2015

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia

artículo científico publicado en 2012

Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.

artículo científico publicado en 2011

PDCD10 gene mutations in multiple cerebral cavernous malformations

artículo científico publicado en 2014

Paraoxonase 1 L55M, Q192R and paraoxonase 2 S311C alleles in atherothrombosis

artículo científico publicado en 2012

Passively acquired anti-SSA/Ro antibodies are required for congenital heart block following ovodonation but maternal genes are not.

artículo científico publicado en 2010

Phenotypic Heterogeneity in a SOD1 G93D Italian ALS Family: An Example of Human Model to Study a Complex Disease

article

Progressive parkinsonism, balance difficulties, and supranuclear gaze palsy

artículo científico publicado en 2014

Recurrent pericarditis: autoimmune or autoinflammatory?

artículo científico

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study

artículo científico publicado en 2012

Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls

artículo científico publicado en 2013

Role of XPC, XPD, XRCC1, GSTP genetic polymorphisms and Barrett's esophagus in a cohort of Italian subjects. A neural network analysis

artículo científico publicado en 2012

SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies

artículo científico publicado en 2013

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

artículo científico publicado en 2005

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia

artículo científico publicado en 2014

Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations

article

Severe High-Density Lipoprotein Deficiency Associated With Autoantibodies Against Lecithin:Cholesterol Acyltransferase in Non-Hodgkin Lymphoma

artículo científico publicado en 2012

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites

article

Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population

artículo científico publicado en 2007

Vascular injury post stent implantation: different gene expression modulation in human umbilical vein endothelial cells (HUVECs) model

artículo científico publicado en 2014

Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma

artículo científico publicado en 2015

Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject.

artículo científico publicado en 2012

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

artículo científico publicado en 2008

p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients

article

Lista de obras de Silvana Penco

A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas.

A Novel Mathematical Approach to Define the Genes/SNPs Conferring Risk or Protection in Sporadic Amyotrophic Lateral Sclerosis Based on Auto Contractive Map Neural Networks and Graph Theory

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency

A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of κ light chains

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

Acquired lecithin:cholesterol acyltransferase deficiency as a major factor in lowering plasma HDL levels in chronic kidney disease

Amyotrophic lateral sclerosis in pregnancy is associated with a vascular endothelial growth factor promoter genotype

An upstream negative regulatory element in human granulocyte-macrophage colony-stimulating factor promoter is recognised by AP1 family members.

Assessment of the role of genetic polymorphism in venous thrombosis through artificial neural networks.

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations.

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

Cavernous malformation of the optic nerve mimicking optic neuritis

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure.

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation

Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study

Corrigendum to “Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort” [GENE 568/2 (2015) 186–189]

Cutaneous venous malformations related to KRIT1 mutation: case report and literature review.

Cyclic tetramers from 3,5- disubstituted 4-hydroxybenzenesulfonyl chlorides. Their synthesis and characterization

De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations

Detection of the first OCA6 Italian patient in a large cohort of albino subjects

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

Does Down's syndrome support the homocysteine theory of atherogenesis? Experience in elderly subjects with trisomy 21.

Erratum to “Letter to the Editor – Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations” [J. Dermatol. Sci. 64 (2011) 237–248]

Erratum to: Is the SHRPS Strain a Suitable Model of Spontaneous CADASIL?

Factors affecting formation and rupture of intracranial saccular aneurysms

Familial cerebral cavernous malformation: report of a further Italian family

Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

Genetic Variations Within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation

Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

Genetic variability of the fructosamine 3-kinase gene in diabetic patients

Glutamate-cysteine ligase polymorphism, hypertension, and male sex are associated with cardiovascular events. Biochemical and genetic characterization of Italian subpopulation

HFE p.H63D polymorphism does not influence ALS phenotype and survival

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features

INTRAMOLECULAR PARTICIPATION OF THE SULFINYL GROUP IN THE HYDROLYSIS OF THE ESTER FUNCTION OF AN α-PHOSPHORYL SULFOXIDE

Identification of an import signal for, and the nuclear localization of, human lactoferrin.

Idiopathic recurrent acute pericarditis: familial Mediterranean fever mutations and disease evolution in a large cohort of Caucasian patients

Is the SHRSP [corrected] strain a suitable model of spontaneous CADASIL?

Lack of association of PON polymorphisms with sporadic ALS in an Italian population

Lactoferrin down-modulates the activity of the granulocyte macrophage colony-stimulating factor promoter in interleukin-1 beta-stimulated cells

Letter by Moccia et al Regarding Article, “Archetypal Arg169Cys Mutation in NOTCH3 Does Not Drive the Pathogenesis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy via a Loss-of-Function Mechanism”

Letter to Editors Are granular osmiophilic material deposits an epiphenomenon in CADASIL?

Methionine challenge paradoxically induces a greater activation of the antioxidant defence in subjects with hyper- vs. normohomocysteinemia

Methylenetetrahydrofolate reductase (MTHFR) and breast cancer risk: a nested-case-control study and a pooled meta-analysis

Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach

Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.

Mutational Screening of NOTCH3 Gene Reveals Two Novel Mutations: Complexity of CADASIL Diagnosis

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population

Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis.

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia

Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.

PDCD10 gene mutations in multiple cerebral cavernous malformations

Paraoxonase 1 L55M, Q192R and paraoxonase 2 S311C alleles in atherothrombosis

Passively acquired anti-SSA/Ro antibodies are required for congenital heart block following ovodonation but maternal genes are not.

Phenotypic Heterogeneity in a SOD1 G93D Italian ALS Family: An Example of Human Model to Study a Complex Disease

Progressive parkinsonism, balance difficulties, and supranuclear gaze palsy

Recurrent pericarditis: autoimmune or autoinflammatory?

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study

Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls

Role of XPC, XPD, XRCC1, GSTP genetic polymorphisms and Barrett's esophagus in a cohort of Italian subjects. A neural network analysis

SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia

Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations

Severe High-Density Lipoprotein Deficiency Associated With Autoantibodies Against Lecithin:Cholesterol Acyltransferase in Non-Hodgkin Lymphoma

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites

Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population

Vascular injury post stent implantation: different gene expression modulation in human umbilical vein endothelial cells (HUVECs) model

Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma