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List of works by Sandra Leistner-Segal

A clinical study of 77 patients with mucopolysaccharidosis type II

scientific article

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

scientific article published on 29 July 2014

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

scientific article published on 18 June 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.

scientific article published on 25 May 2007

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

scientific article published on September 2009

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

scientific article published in August 2014

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

scientific article published on 01 January 2011

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

scientific article published on 21 July 2006

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

scientific article

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

scientific article published on 6 May 2014

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

scientific article published on 29 September 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.

scientific article

Diagnosis of Mucopolysaccharidoses

scientific article published on 22 March 2020

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

scientific article

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

scientific article published on 16 February 2017

Emerging research groups studying Brazilian psychiatric genetics

scientific article published in March 2010

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

scientific article published on 4 August 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

scientific article published on 21 May 2013

Further cases of “neighbor” mutations in mucopolysaccharidosis type II

scientific article published on 01 August 2006

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

scientific article published on 20 September 2011

Genomic instability in human lymphocytes from male users of crack cocaine

scientific article

Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.

scientific article

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

scientific article published in January 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.

scientific article

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

scientific article published on 25 April 2015

Identification of β thalassemia mutations in South Brazilians

article

Important aspects in the molecular diagnosis of mucopolysaccharidoses

scientific article published on 09 November 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

scientific article published on 06 September 2016

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

scientific article published on 25 February 2014

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

scientific article published in April 2012

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

scientific article published in 2007

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

scientific article published on 3 December 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.

scientific article published on 11 September 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

scientific article published on 01 December 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

scientific article

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

scientific article

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

article

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

scientific article published in September 2013

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

scientific article

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

scientific article published on 5 November 2009

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

scientific article published on 16 December 2008

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

scientific article published on 15 September 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

scientific article

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

scientific article published on 01 January 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

scientific article published on 4 January 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.

scientific article

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

scientific article published in PLoS ONE

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

scientific article

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

scientific article published in June 2011

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

scientific article published in February 2014

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

scientific article

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

scientific article published on December 2015

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

scientific article published in July 2004

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