Search the collection

21 results for Leistner-Segal,+Sandra

Sort by:

Sort by

Limit results to:

20 per page

21 results for Leistner-Segal,+Sandra

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
Author / Creator:Kubaski, Francyne ; Herbst, Zackary M. ; Burin, Maira Graeff ; Michelin‐Tirelli, Kristiane ; Trapp, Franciele B. ; Gus, Rejane ; Netto, Alice B. O. ; Brusius‐Facchin, Ana Carolina ; Leistner‐Segal, Sandra ; Sanseverino, Maria Teresa ; Souza, Carolina Moura Fischinger de ; Wilke, Matheus V. M. B. ; Oliveira, Thiago ; Magalhães, Jose A. A. ; Giugliani, Roberto
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2022-03, Vol.63 (2), p.162-167
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Lack of association between the Serotonin Transporter Promoter Polymorphism (5-HTTLPR) and Panic Disorder: a systematic review and meta-analysis
Author / Creator:Blaya, Carolina ; Salum, Giovanni A ; Lima, Maurício S ; Leistner-Segal, Sandra ; Manfro, Gisele G
Publisher:England: BioMed Central Ltd
Journal title:Behavioral and brain functions, 2007-08, Vol.3 (1), p.41-41, Article 41
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Diagnosis of Mucopolysaccharidoses
Author / Creator:Kubaski, Francyne ; de Oliveira Poswar, Fabiano ; Michelin-Tirelli, Kristiane ; Burin, Maira Graeff ; Rojas-Málaga, Diana ; Brusius-Facchin, Ana Carolina ; Leistner-Segal, Sandra ; Giugliani, Roberto
Publisher:Switzerland: MDPI AG
Journal title:Diagnostics (Basel), 2020-03, Vol.10 (3), p.172
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Methylation of BDNF and SLC6A4 Gene Promoters in Brazilian Patients With Temporal Lobe Epilepsy Presenting or Not Psychiatric Comorbidities
Author / Creator:Bandeira, Isabel Cristina ; Giombelli, Lucas ; Werlang, Isabel Cristina ; Abujamra, Ana Lucia ; Secchi, Thais Leite ; Brondani, Rosane ; Bragatti, José Augusto ; Bizzi, Jorge Wladimir Junqueira ; Leistner-Segal, Sandra ; Bianchin, Marino Muxfeldt
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in integrative neuroscience, 2021-11, Vol.15, p.764742-764742
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients
Author / Creator:Hahn, Eriza Cristina ; Bittar, Camila Matzenbacher ; Vianna, Fernanda Sales Luis ; Netto, Cristina Brinckmann Oliveira ; Biazús, Jorge Villanova ; Cericatto, Rodrigo ; Cavalheiro, José Antônio ; de Melo, Márcia Portela ; Menke, Carlos Henrique ; Rabin, Eliane ; Leistner-Segal, Sandra ; Ashton-Prolla, Patricia
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-12, Vol.13 (12), p.e0209934-e0209934
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?
Author / Creator:Rojas Malaga, Diana ; Leistner-Segal, Sandra ; Brusius-Facchin, Ana Carolina
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2019-05, Vol.45 (1), p.60-60, Article 60
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years
Author / Creator:Karam, Simone M. ; Barros, Aluísio J.D. ; Matijasevich, Alícia ; dos Santos, Iná S. ; Anselmi, Luciana ; Barros, Fernando ; Leistner-Segal, Sandra ; Félix, Têmis M. ; Riegel, Mariluce ; Maluf, Sharbel W. ; Giugliani, Roberto ; Black, Maureen M.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Public health genomics, 2016-01, Vol.19 (5), p.290-297
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Important aspects in the molecular diagnosis of mucopolysaccharidoses
Author / Creator:Brusius-Facchin, Ana Carolina ; Kubaski, Francyne ; Giugliani, Roberto ; Leistner-Segal, Sandra
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.905-906
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
What can HPA axis-linked genes tell us about anxiety disorders in adolescents?
Author / Creator:Bortoluzzi, Andressa ; Blaya, Carolina ; da Rosa, Eduarda Dias ; Paim, Mariana ; Rosa, Virgínia ; Leistner-Segal, Sandra ; Manfro, Gisele Gus
Publisher:Brazil: Associação de Psiquiatria do Rio Grande do Sul - Trends in Psychiatry and Psychotherapy
Journal title:Trends in psychiatry and psychotherapy, 2015-10, Vol.37 (4), p.232-237
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil
Author / Creator:Fussiger, Helena ; Saraiva-Pereira, Maria Luiza ; Leistner-Segal, Sandra ; Jardim, Laura Bannach
Publisher:New York: Springer US
Journal title:Cerebellum (London, England), 2019-02, Vol.18 (1), p.147-151
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance
Author / Creator:Cornejo-Olivas, Mario ; Inca-Martinez, Miguel ; Castilhos, Raphael Machado ; Furtado, Gabriel Vasata ; Mattos, Eduardo Preusser ; Bampi, Giovana Bavia ; Leistner-Segal, Sandra ; Marca, Victoria ; Mazzetti, Pilar ; Saraiva-Pereira, Maria Luiza ; Jardim, Laura Bannach
Publisher:New York: Springer US
Journal title:Cerebellum (London, England), 2020-04, Vol.19 (2), p.208-215
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Diagnostic and treatment strategies in mucopolysaccharidosis VI
Author / Creator:Giugliani, Roberto ; Federhen, Andressa ; Vairo, Filippo ; Baldo, Guilherme ; Riegel, Mariluce ; Burin, Maira ; Leistner-Segal, Sandra
Publisher:New Zealand: Dove Medical Press Limited
Journal title:Application of clinical genetics, 2015-01, Vol.8, p.245-255
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Correction to: Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance
Author / Creator:Cornejo-Olivas, Mario ; Inca-Martinez, Miguel ; Castilhos, Raphael Machado ; Furtado, Gabriel Vasata ; Mattos, Eduardo Preusser ; Bampi, Giovana Bavia ; Leistner-Segal, Sandra ; Marca, Victoria ; Mazzetti, Pilar ; Saraiva-Pereira, Maria Luiza ; Jardim, Laura Bannach
Publisher:New York: Springer US
Journal title:Cerebellum (London, England), 2020-04, Vol.19 (2), p.216-216
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes
Author / Creator:Martinez, Alberto R. M. ; Moro, Adriana ; Abrahao, Agessandro ; Faber, Ingrid ; Borges, Conrado R. ; Rezende, Thiago J. R. ; Martins, Carlos R. ; Moscovich, Mariana ; Munhoz, Renato P. ; Segal, Sandra Leistner ; Arruda, Walter O. ; Saraiva-Pereira, Maria Luiza ; Karuta, Simone ; Pedroso, José Luiz ; D’Abreu, Anelyssa ; Jardim, Laura B. ; Lopes-Cendes, Íscia ; Barsottini, Orlando G. ; Teive, Hélio A. G. ; França, Marcondes C.
Publisher:New York: Springer US
Journal title:Cerebellum (London, England), 2017-02, Vol.16 (1), p.253-256
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity
Author / Creator:Costa-Motta, Fabiana Moura ; Bender, Fernanda ; Acosta, Angelina ; Abé-Sandes, Kiyoko ; Machado, Taísa ; Bomfim, Thaís ; Sorte, Tatiana Boa ; da Silva, Danniel ; Bittles, Alan ; Giugliani, Roberto ; Leistner-Segal, Sandra
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Human heredity, 2014-01, Vol.77 (1/4), p.189-196
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Genomic Instability in Human Lymphocytes from Male Users of Crack Cocaine
Author / Creator:Freitas, Thiago ; Palazzo, Roberta ; De Andrade, Fabiana ; Reichert, César ; Pechansky, Flávio ; Kessler, Félix ; De Farias, Caroline ; De Andrade, Gisele ; Leistner-Segal, Sandra ; Maluf, Sharbel
Publisher:Switzerland: MDPI AG
Journal title:International journal of environmental research and public health, 2014-09, Vol.11 (10), p.10003-10015
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients
Author / Creator:Borsatto, Taciane ; Sperb-Ludwig, Fernanda ; Pinto, Louise LC ; De Luca, Gisele R ; Carvalho, Francisca L ; De Souza, Carolina FM ; De Medeiros, Paula FV ; Lourenço, Charles M ; Filho, Reinaldo LO ; Neto, Eurico C ; Bernardi, Pricila ; Leistner-Segal, Sandra ; Schwartz, Ida VD
Publisher:England: BioMed Central
Journal title:BMC genetics, 2014-09, Vol.15 (1), p.96-96, Article 96
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Identification of β thalassemia mutations in South Brazilians
Author / Creator:Reichert, Vivian C. D. ; de Castro, Simone M. ; Wagner, Sandrine C. ; de Albuquerque, Dulcinéia M. ; Hutz, Mara H. ; Leistner-Segal, Sandra
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Annals of hematology, 2008-05, Vol.87 (5), p.381-384
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Molecular Analysis of the p53 Gene in Patients with Intestinal Metaplasia of the Cardia and Barrett's Esophagus: Characterization by Sequencing
Author / Creator:Pilger, Diogo André ; Lopez, Patricia L. ; Segal, Fâbio ; Leistner-Segal, Sandra
Publisher:Heidelberg: Springer
Journal title:Digestive diseases and sciences, 2007-09, Vol.52 (9), p.2183-2185
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Identification of [beta] thalassemia mutations in South Brazilians
Author / Creator:Reichert, Vivian C; D ; de Castro, Simone M ; Wagner, Sandrine C ; de Albuquerque, Dulcinéia M ; Hutz, Mara H ; Leistner-segal, Sandra
Publisher:Berlin: Springer Nature B.V
Journal title:Annals of hematology, 2008-05, Vol.87 (5), p.381
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 21 results

Export record to excel

Export this record

Export record to excel

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy

Export this record

Export record to excel

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

Export this record

Export record to excel

Diagnosis of Mucopolysaccharidoses

Export this record

Export record to excel

Methylation of BDNF and SLC6A4 Gene Promoters in Brazilian Patients With Temporal Lobe Epilepsy Presenting or Not Psychiatric Comorbidities

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

Important aspects in the molecular diagnosis of mucopolysaccharidoses

Export this record

Export record to excel

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

Export this record

Export record to excel

Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil

Export this record

Export record to excel

Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance

Export this record

Export record to excel

Diagnostic and treatment strategies in mucopolysaccharidosis VI

Export this record

Export record to excel

Correction to: Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

Genomic Instability in Human Lymphocytes from Male Users of Crack Cocaine

Export this record

Export record to excel

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients

Export this record

Export record to excel

Identification of β thalassemia mutations in South Brazilians

Export this record

Export record to excel

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

Export this record

Export record to excel

Identification of [beta] thalassemia mutations in South Brazilians

Refine your search