Lista de obras - Sandra Leistner-Segal - Dominio Público Uruguay

A clinical study of 77 patients with mucopolysaccharidosis type II

artículo científico publicado en 2007

A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity

artículo científico publicado en 2014

Analysis of KIR gene frequencies and HLA class I genotypes in breast cancer and control group.

artículo científico publicado en 2013

Analysis of R213R and 13494 g-->a polymorphisms of the p53 gene in individuals with esophagitis, intestinal metaplasia of the cardia and Barrett's Esophagus compared with a control group.

artículo científico publicado en 2007

Analysis of the R72P polymorphism of the TP53 gene in patients with invasive ductal breast carcinoma

artículo científico publicado en 2009

Anxiety disorders and anxiety-related traits and serotonin transporter gene-linked polymorphic region (5-HTTLPR) in adolescents: case-control and trio studies

artículo científico publicado en 2014

Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations

artículo científico publicado en 2011

Association between suicide attempts in south Brazilian depressed patients with the serotonin transporter polymorphism

artículo científico publicado en 2006

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.

artículo científico publicado en 2014

Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism.

artículo científico publicado en 2014

Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report

artículo científico publicado en 2014

Clinical and biochemical studies in mucopolysaccharidosis type II carriers

article

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

scientific article published on 01 September 2004

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.

artículo científico publicado en 2015

Diagnosis of Mucopolysaccharidoses

scientific article published on 22 March 2020

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

artículo científico publicado en 2015

Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.

artículo científico publicado en 2017

Emerging research groups studying Brazilian psychiatric genetics.

artículo científico publicado en 2010

Evidence of association between Val66Met polymorphism at BDNF gene and anxiety disorders in a community sample of children and adolescents

artículo científico publicado en 2011

Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence

artículo científico publicado en 2013

Further cases of “neighbor” mutations in mucopolysaccharidosis type II

artículo científico publicado en 2006

Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil

artículo científico publicado en 2011

Genomic instability in human lymphocytes from male users of crack cocaine

artículo científico publicado en 2014

Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.

artículo científico publicado en 2017

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

artículo científico publicado en 2003

Identification of a Novel Mutation in the ARSB Gene That Is Frequent Among Brazilian MPSVI Patients

article

Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA.

artículo científico publicado en 2013

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.

artículo científico publicado en 2015

Identification of β thalassemia mutations in South Brazilians

article

Important aspects in the molecular diagnosis of mucopolysaccharidoses

artículo científico publicado en 2012

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases

scientific article published on 10 June 2019

Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years

artículo científico publicado en 2016

Is interictal EEG activity a biomarker for mood disorders in temporal lobe epilepsy?

artículo científico publicado en 2014

Is puberty a trigger for 5HTTLPR polymorphism association with depressive symptoms?

artículo científico publicado en 2012

Lack of association between the Serotonin Transporter Promoter Polymorphism (5-HTTLPR) and Panic Disorder: a systematic review and meta-analysis

artículo científico publicado en 2007

Lack of association between the serotonin transporter promoter polymorphism (5-HTTLPR) and personality traits in asymptomatic patients with panic disorder

artículo científico publicado en 2007

Lack of association between thrombophilic gene variants and recurrent pregnancy loss

article

Mineralocorticoid receptor genotype moderates the association between physical neglect and serum BDNF.

artículo científico publicado en 2014

Molecular Analysis of the p53 Gene in Patients with Intestinal Metaplasia of the Cardia and Barrett's Esophagus: Characterization by Sequencing

article

Molecular analysis of thePi*Z allele in patients with liver disease

artículo científico publicado en 2001

Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

scientific article published on 22 June 2019

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

artículo científico publicado en 2014

Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy.

artículo científico publicado en 2011

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family

article

Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

artículo científico publicado en 2013

Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

artículo científico publicado en 2005

No major clinical impact of Val66Met BDNF gene polymorphism on temporal lobe epilepsy

artículo científico publicado en 2009

Novel allelic variants in the human serotonin transporter gene linked polymorphism (5-HTTLPR) among depressed patients with suicide attempt.

artículo científico publicado en 2008

Panic disorder and serotonergic genes (SLC6A4, HTR1A and HTR2A): Association and interaction with childhood trauma and parenting

artículo científico publicado en 2010

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

scientific article published on 11 April 2019

Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?

article

Population medical genetics: translating science to the community

scientific article published on 11 April 2019

Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil

artículo científico publicado en 2012

Prevalence of thrombophilia and thrombotic events inpatients with Fabry disease in a reference center forlysosomal disorders in Southern Brazil

article

Pseudodeficiency of arylsulphatase A: Strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms

artículo científico publicado en 1995

Rapidly advancing phenotype consistently identified in five Brazilian MPS VI patients homozygous for the R315Q mutation

article

Serotonin gene polymorphisms and psychiatry comorbidities in temporal lobe epilepsy

artículo científico publicado en 2012

Serotonin transporter gene (5HTT) polymorphisms and temporal lobe epilepsy

article

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

article

TP53 gene R72P polymorphism analysis in patients with Barrett esophagus.

artículo científico publicado en 2006

TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients

artículo científico publicado en 2018

The BDNF Val66Met polymorphism is an independent risk factor for high lethality in suicide attempts of depressed patients

artículo científico publicado en 2010

The incidence of p.R506Q and c.G20210A mutations in South Brazilian patients with Fabry disease and with Gaucher disease

article

The multidimensional evaluation and treatment of anxiety in children and adolescents: rationale, design, methods and preliminary findings

artículo científico publicado en 2011

Tryptophan hydroxylase 2 (TPH2) gene polymorphisms and psychiatric comorbidities in temporal lobe epilepsy

artículo científico publicado en 2014

Val66Met polymorphism association with serum BDNF and inflammatory biomarkers in major depression

artículo científico publicado en 2017

What can HPA axis-linked genes tell us about anxiety disorders in adolescents?

artículo científico publicado en 2015

p53 protein overexpression and p53 mutation analysis in patients with intestinal metaplasia of the cardia and Barrett's esophagus

artículo científico publicado en 2004

Lista de obras de Sandra Leistner-Segal

A clinical study of 77 patients with mucopolysaccharidosis type II

A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity

Analysis of KIR gene frequencies and HLA class I genotypes in breast cancer and control group.

Analysis of R213R and 13494 g-->a polymorphisms of the p53 gene in individuals with esophagitis, intestinal metaplasia of the cardia and Barrett's Esophagus compared with a control group.

Analysis of the R72P polymorphism of the TP53 gene in patients with invasive ductal breast carcinoma

Anxiety disorders and anxiety-related traits and serotonin transporter gene-linked polymorphic region (5-HTTLPR) in adolescents: case-control and trio studies

Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations

Association between suicide attempts in south Brazilian depressed patients with the serotonin transporter polymorphism

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.

Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism.

Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report

Clinical and biochemical studies in mucopolysaccharidosis type II carriers

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.

Diagnosis of Mucopolysaccharidoses

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.

Emerging research groups studying Brazilian psychiatric genetics.

Evidence of association between Val66Met polymorphism at BDNF gene and anxiety disorders in a community sample of children and adolescents

Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence

Further cases of “neighbor” mutations in mucopolysaccharidosis type II

Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil

Genomic instability in human lymphocytes from male users of crack cocaine

Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

Identification of a Novel Mutation in the ARSB Gene That Is Frequent Among Brazilian MPSVI Patients

Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA.

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.

Identification of β thalassemia mutations in South Brazilians

Important aspects in the molecular diagnosis of mucopolysaccharidoses

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases

Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years

Is interictal EEG activity a biomarker for mood disorders in temporal lobe epilepsy?

Is puberty a trigger for 5HTTLPR polymorphism association with depressive symptoms?

Lack of association between the Serotonin Transporter Promoter Polymorphism (5-HTTLPR) and Panic Disorder: a systematic review and meta-analysis

Lack of association between the serotonin transporter promoter polymorphism (5-HTTLPR) and personality traits in asymptomatic patients with panic disorder

Lack of association between thrombophilic gene variants and recurrent pregnancy loss

Mineralocorticoid receptor genotype moderates the association between physical neglect and serum BDNF.

Molecular Analysis of the p53 Gene in Patients with Intestinal Metaplasia of the Cardia and Barrett's Esophagus: Characterization by Sequencing

Molecular analysis of thePi*Z allele in patients with liver disease

Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy.

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family

Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

No major clinical impact of Val66Met BDNF gene polymorphism on temporal lobe epilepsy

Novel allelic variants in the human serotonin transporter gene linked polymorphism (5-HTTLPR) among depressed patients with suicide attempt.

Panic disorder and serotonergic genes (SLC6A4, HTR1A and HTR2A): Association and interaction with childhood trauma and parenting

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?

Population medical genetics: translating science to the community

Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil

Prevalence of thrombophilia and thrombotic events inpatients with Fabry disease in a reference center forlysosomal disorders in Southern Brazil

Pseudodeficiency of arylsulphatase A: Strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms

Rapidly advancing phenotype consistently identified in five Brazilian MPS VI patients homozygous for the R315Q mutation

Serotonin gene polymorphisms and psychiatry comorbidities in temporal lobe epilepsy

Serotonin transporter gene (5HTT) polymorphisms and temporal lobe epilepsy

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

TP53 gene R72P polymorphism analysis in patients with Barrett esophagus.

TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients

The BDNF Val66Met polymorphism is an independent risk factor for high lethality in suicide attempts of depressed patients

The incidence of p.R506Q and c.G20210A mutations in South Brazilian patients with Fabry disease and with Gaucher disease

The multidimensional evaluation and treatment of anxiety in children and adolescents: rationale, design, methods and preliminary findings

Tryptophan hydroxylase 2 (TPH2) gene polymorphisms and psychiatric comorbidities in temporal lobe epilepsy

Val66Met polymorphism association with serum BDNF and inflammatory biomarkers in major depression

What can HPA axis-linked genes tell us about anxiety disorders in adolescents?

p53 protein overexpression and p53 mutation analysis in patients with intestinal metaplasia of the cardia and Barrett's esophagus