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

    Article • Genetics and Molecular Biology, April 2019, FapUNIFESP (SciELO)

    Dr Sandra Leistner-Segal

  2. Population medical genetics: translating science to the community

    Article • Genetics and Molecular Biology, April 2019, FapUNIFESP (SciELO)

    Dr Sandra Leistner-Segal, Prof Maria Luiza Saraiva-Pereira

  3. Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses

    Article • Expert Review of Molecular Diagnostics, September 2018, Taylor & Francis

    Dr Sandra Leistner-Segal

  4. Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil

    Article • The Cerebellum, June 2018, Springer Science + Business Media

    Dr Sandra Leistner-Segal, Prof Maria Luiza Saraiva-Pereira

  5. Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA

    Article • Meta Gene, June 2018, Elsevier

    Dr Sandra Leistner-Segal

  6. Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II

    Article • Biology of Blood and Marrow Transplantation, October 2017, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • The World Journal of Biological Psychiatry, July 2017, Taylor & Francis

    Dr Sandra Leistner-Segal

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

    Article • Prenatal Diagnosis, March 2017, Wiley

    Dr Sandra Leistner-Segal

  9. Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes

    Article • The Cerebellum, January 2016, Springer Science + Business Media

    Dr Sandra Leistner-Segal, Prof Maria Luiza Saraiva-Pereira

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

    Article • Public Health Genomics, January 2016, Karger Publishers

    Dr Sandra Leistner-Segal

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

    Article • Expert Review of Molecular Diagnostics, December 2015, Taylor & Francis

    Dr Mariluce Riegel, Dr Sandra Leistner-Segal

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

    Article • Trends in Psychiatry and Psychotherapy, December 2015, FapUNIFESP (SciELO)

    Dr Sandra Leistner-Segal

  13. MPS VI Diagnostic

    Article • The Application of Clinical Genetics, October 2015, Dove Medical Press

    Dr Sandra Leistner-Segal

  14. Identification of a premature stop codon mutation in thePHGDHgene in severe Neu-Laxova syndrome-evidence for phenotypic variability

    Article • American Journal of Medical Genetics Part A, April 2015, Wiley

    Dr Sandra Leistner-Segal

  15. Genetics causes of Intellectual Disability

    Article • American Journal of Medical Genetics Part A, February 2015, Wiley

    Professor Simone M Karam, Dr Mariluce Riegel, Dr Sandra Leistner-Segal

  16. Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)

    Article • Expert Opinion on Orphan Drugs, February 2015, Informa Healthcare

    Dr Sandra Leistner-Segal

  17. MPS I and MPS II: Minimal estimated incidence in Brazil and comparison to the rest of the world

    Article • Molecular Genetics and Metabolism, February 2015, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Journal of Psychiatric Research, December 2014, Elsevier

    Dr Sandra Leistner-Segal

  19. Corrigendum to “Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations” [Mol. Genet. Metab. 112 (2014) 160–170]

    Article • Molecular Genetics and Metabolism, November 2014, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Clinical Neurophysiology, October 2014, Elsevier

    Dr Sandra Leistner-Segal

  21. Genomic Instability in Human Lymphocytes from Male Users of Crack Cocaine

    Article • International Journal of Environmental Research and Public Health, September 2014, MDPI AG

    Dr Sandra Leistner-Segal

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

    Article • BMC Medical Genetics, September 2014, Springer Science + Business Media

    Dr Sandra Leistner-Segal

  23. Anxiety disorders and anxiety-related traits and serotonin transporter gene-linked polymorphic region (5-HTTLPR) in adolescents

    Article • Psychiatric Genetics, August 2014, Wolters Kluwer Health

    Dr Sandra Leistner-Segal

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

    Article • Gene, August 2014, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Molecular Genetics and Metabolism, June 2014, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Epilepsy & Behavior, March 2014, Elsevier

    Dr Sandra Leistner-Segal

  27. Lack of association between thrombophilic gene variants and recurrent pregnancy loss

    Article • Human Fertility, February 2014, Taylor & Francis

    Dr Sandra Leistner-Segal

  28. Molecular characterization of 103 South American patients with mucopolysaccharidosis type II reveals 30 novel mutations

    Article • Molecular Genetics and Metabolism, February 2014, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Molecular Genetics and Metabolism, February 2014, Elsevier

    Dr Sandra Leistner-Segal, Isabella Monlleo

  30. Prediction of the molecular consequences of aminoacid substitutions in the GALNS gene using in silico tools

    Article • Molecular Genetics and Metabolism, February 2014, Elsevier

    Dr Sandra Leistner-Segal

  31. Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis Type II

    Article • Clinical & Biomedical Research, January 2014, Editora Cubo Multimidia

    Dr Sandra Leistner-Segal

  32. A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity

    Article • Human Heredity, January 2014, Karger Publishers

    Dr Sandra Leistner-Segal

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

    Article • Molecular Genetics and Metabolism Reports, January 2014, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Human Immunology, September 2013, Elsevier

    Professor Jorger Villanova Biazus, Dr Sandra Leistner-Segal

  35. 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

    Article • Gene, September 2013, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Gene, March 2013, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Molecular Genetics and Metabolism, February 2013, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Molecular Genetics and Metabolism, February 2013, Elsevier

    Dr Sandra Leistner-Segal

  39. Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1,000 newborns tested

    Article • Molecular Genetics and Metabolism, February 2013, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Molecular Genetics and Metabolism, February 2013, Elsevier

    Dr Sandra Leistner-Segal

  41. Important aspects in the molecular diagnosis of mucopolysaccharidoses

    Article • Journal of Inherited Metabolic Disease, November 2012, Springer Science + Business Media

    Dr Sandra Leistner-Segal

  42. Associations between parenting behavior and anxiety in a rodent model and a clinical sample: relationship to peripheral BDNF levels

    Article • Translational Psychiatry, November 2012, Springer Science + Business Media

    Dr Sandra Leistner-Segal

  43. Response to: A functional 5-HT1A variant and comorbid anxiety

    Article • Epilepsy Research, June 2012, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Journal of Psychiatric Research, June 2012, Elsevier

    Dr Sandra Leistner-Segal

  45. Serotonin gene polymorphisms and psychiatry comorbidities in temporal lobe epilepsy

    Article • Epilepsy Research, May 2012, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • American Journal of Medical Genetics Part A, April 2012, Wiley

    Dr Sandra Leistner-Segal

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

    Article • Genetics and Molecular Biology, January 2012, FapUNIFESP (SciELO)

    Dr Sandra Leistner-Segal

  48. Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil

    Article • Molecular Genetics and Metabolism, December 2011, Elsevier

    Dr Sandra Leistner-Segal

  49. The Contribution of Molecular Techniques in Prenatal Diagnosis and Post mortem Fetus with Multiple Malformation

    Article • September 2011, IntechOpen

    Dr Sandra Leistner-Segal

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

    Article • Neuroscience Letters, September 2011, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Epilepsy Research, June 2011, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Brazilian Journal of Psychiatry, June 2011, FapUNIFESP (SciELO)

    Dr Sandra Leistner-Segal

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

    Article • Genetics and Molecular Biology, January 2011, FapUNIFESP (SciELO)

    Dr Gustavo M Viana, Dr Sandra Leistner-Segal

  54. Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)

    Article • January 2011, Springer Science + Business Media

    Dr Sandra Leistner-Segal

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

    Article • American Journal of Medical Genetics Part A, December 2010, Wiley

    Dr Sandra Leistner-Segal

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

    Article • Neuroscience Letters, November 2010, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Progress in Neuro-Psychopharmacology and Biological Psychiatry, August 2010, Elsevier

    Dr Sandra Leistner-Segal

  58. Emerging research groups studying Brazilian psychiatric genetics

    Article • Brazilian Journal of Psychiatry, March 2010, FapUNIFESP (SciELO)

    Dr Sandra Leistner-Segal

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

    Article • Epilepsy Research, February 2010, Elsevier

    Dr Sandra Leistner-Segal, Prof Maria Luiza Saraiva-Pereira

  60. Clinical and biochemical studies in mucopolysaccharidosis type II carriers

    Article • Journal of Inherited Metabolic Disease, October 2009, Wiley

    Dr Sandra Leistner-Segal

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

    Article • Molecular Medicine Reports, July 2009, Spandidos Publications

    Dr Sandra Leistner-Segal

  62. Erratum to “The role of methylenetetrahydrofolate reductase in acute lymphoblastic leukemia in a Brazilian mixed population” [Leuk. Res. 30 (2006) 477–481]

    Article • Leukemia Research, July 2009, Elsevier

    Dr Sandra Leistner-Segal

  63. Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance

    Article • Neuroscience Letters, March 2009, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Neuroscience Letters, February 2009, Elsevier

    Dr Sandra Leistner-Segal

  65. Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital

    Article • Genetics and Molecular Biology, December 2008, FapUNIFESP (SciELO)

    Dr Sandra Leistner-Segal

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

    Article • Neuroscience Letters, January 2008, Elsevier

    Dr Sandra Leistner-Segal

  67. Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease

    Article • Genetics and Molecular Biology, January 2008, FapUNIFESP (SciELO)

    Dr Sandra Leistner-Segal

  68. Identification of β thalassemia mutations in South Brazilians

    Article • Annals of Hematology, December 2007, Springer Science + Business Media

    Dr Sandra Leistner-Segal, Dr Simone Martins de Castro

  69. 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

    Article • Genomic Medicine, May 2007, Springer Science + Business Media

    Dr Sandra Leistner-Segal

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

    Article • Digestive Diseases and Sciences, April 2007, Springer Science + Business Media

    Dr Sandra Leistner-Segal

  71. A clinical study of 77 patients with mucopolysaccharidosis type II

    Article • Acta Paediatrica, March 2007, Wiley

    Dr Sandra Leistner-Segal, Isabella Monlleo

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

    Article • Behavioral and Brain Functions, January 2007, Springer Science + Business Media

    Dr Sandra Leistner-Segal

  73. TP53 gene R72P polymorphism analysis in patients with Barrett esophagus

    Article • Cancer Genetics and Cytogenetics, October 2006, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • Psychiatry Research, August 2006, Elsevier

    Dr Sandra Leistner-Segal

  75. The role of methylenetetrahydrofolate reductase in acute lymphoblastic leukemia in a Brazilian mixed population

    Article • Leukemia Research, April 2006, Elsevier

    Dr Sandra Leistner-Segal

  76. Further cases of “neighbor” mutations in mucopolysaccharidosis type II

    Article • American Journal of Medical Genetics Part A, January 2006, Wiley

    Dr Sandra Leistner-Segal

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

    Article • Journal of Inherited Metabolic Disease, December 2005, Wiley

    Dr Sandra Leistner-Segal

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

    Article • Cancer Letters, July 2004, Elsevier

    Dr Sandra Leistner-Segal

  79. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

    Article • Clinical Genetics, June 2004, Wiley

    Dr Sandra Leistner-Segal

  80. Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil

    Article • Birth Defects Research Part A Clinical and Molecular Teratology, June 2004, Wiley

    Dr Sandra Leistner-Segal

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

    Article • Genetic Testing, December 2003, Mary Ann Liebert Inc

    Dr Sandra Leistner-Segal

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

    Article • Clinical Genetics, July 2003, Wiley

    Dr Sandra Leistner-Segal

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

    Article • Molecular Genetics and Metabolism, January 2003, Elsevier

    Dr Sandra Leistner-Segal

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

    Article • American Journal of Medical Genetics, January 2001, Wiley

    Dr Sandra Leistner-Segal

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

    Article • Journal of Inherited Metabolic Disease, November 1995, Wiley

    Dr Sandra Leistner-Segal