Mara Sanches Guaragna

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 13

Top Topics

Intellectual Disability

Diabetic Retinopathy

Genome Wide Identification

Dna Damage Response

Top Venues

American journal of medical genetics. Part A

Sao Paulo medical journal = Revista paulista de medicina

Molecular genetics and genomics : MGG

This page only lists publications with an associated author ORCID identifier.

Publications

Ianne Pessoa Holanda, Priscila Hae Hyun Rim, null Rare Genomes Project Consortium, Mara Sanches Guaragna, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner
Syndromic Retinitis Pigmentosa: A 15-Patient Study. Genes 15 (4) (2024)
Ianne Pessoa Holanda, Priscila Hae Hyun Rim, null Rare Genomes Project Consortium, Mara Sanches Guaragna, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner
Syndromic Retinitis Pigmentosa: A 15-Patient Study. Genes 15 (4) (2024)
Adriana Mangue Esquiaveto-Aun, Maricilda Palandi de Mello, Mara Sanches Guaragna, Vera Lúcia Gil da Silva Lopes, Ana Paula Francese-Santos, Cristiane Dos Santos Cruz Piveta, Taís Nitsh Mazolla, Sofia Helena Valente de Lemos-Marini, Gil Guerra-Junior
X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene. American journal of medical genetics. Part A 194 (6) (2024)
Adriana Mangue Esquiaveto-Aun, Maricilda Palandi de Mello, Mara Sanches Guaragna, Vera Lúcia Gil da Silva Lopes, Ana Paula Francese-Santos, Cristiane Dos Santos Cruz Piveta, Taís Nitsh Mazolla, Sofia Helena Valente de Lemos-Marini, Gil Guerra-Junior
X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene. American journal of medical genetics. Part A 194 (6) (2024)
Ianne Pessoa Holanda, Priscila Hae Hyun Rim, null Rare Genomes Project Consortium, Mara Sanches Guaragna, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner
Syndromic Retinitis Pigmentosa: A 15-Patient Study. Genes 15 (4) (2024)
Adriana Mangue Esquiaveto-Aun, Maricilda Palandi de Mello, Mara Sanches Guaragna, Vera Lúcia Gil da Silva Lopes, Ana Paula Francese-Santos, Cristiane Dos Santos Cruz Piveta, Taís Nitsh Mazolla, Sofia Helena Valente de Lemos-Marini, Gil Guerra-Junior
X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene. American journal of medical genetics. Part A (2024)
Adriana Mangue Esquiaveto-Aun, Maricilda Palandi de Mello, Mara Sanches Guaragna, Vera Lúcia Gil da Silva Lopes, Ana Paula Francese-Santos, Cristiane Dos Santos Cruz Piveta, Taís Nitsh Mazolla, Sofia Helena Valente de Lemos-Marini, Gil Guerra-Junior
X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene. American journal of medical genetics. Part A 194 (6) (2024)
Mara Sanches Guaragna, Felipe Lourenço Ledesma, Victoria Zavanelli Manzano, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior, Marcelo Milone Silva, Pedro Luiz de Brito, Maricilda Palandi de Mello
Bilateral Wilms' tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region. Journal of pediatric endocrinology & metabolism : JPEM 35 (6) (2022)
Flávia Marcorin de Oliveira, Beatriz Amstalden Barros, Ana Paula Dos Santos, Nilma Lúcia Viguetti Campos, Taís Nitsch Mazzola, Paulo Latuf Filho, Liliana Aparecida Lucci De Angelo Andrade, Mara Sanches Guaragna, Maricilda Palandi de Mello, Gil Guerra-Junior, Társis Antonio Paiva Vieira, Andréa Trevas Maciel-Guerra
SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism. American journal of medical genetics. Part A (2022)
Luísa Riccetto, Társis Antonio Paiva Vieira, Nilma Lucia Viguetti-Campos, Taís Nitsch Mazzola, Mara Sanches Guaragna, Helena Fabbri-Scallet, Maricilda Palandi de Mello, Antonia Paula Marques-de-Faria, Andréa Trevas Maciel-Guerra, Gil Guerra Junior
Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study. Sao Paulo medical journal = Revista paulista de medicina (2022)
Andreia Watanabe, Mara Sanches Guaragna, Vera Maria Santoro Belangero, Fernanda Maria Casimiro da Fonseca, João Bosco Pesquero, Luciana de Santis Feltran, Lilian Monteiro Pereira Palma, Patrícia Varela, Precil Diego Miranda de Menezes Neves, Antonio Marcondes Lerario, Marcela Lopes de Souza, Maricilda Palandi de Mello, Anna Cristina Gervásio de Brito Lutaif, Cassio Rodrigues Ferrari, Matthew Gordon Sampson, Luiz Fernando Onuchic, Paulo Cesar Koch Nogueira
APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses. Pediatric nephrology (Berlin, Germany) 36 (8) (2021)
Mara Sanches Guaragna, Anna Cristina Gervásio de Brito Lutaif, Marcela Lopes de Souza, Andréa Trevas Maciel-Guerra, Vera Maria Santoro Belangero, Gil Guerra Junior, Maricilda Palandi de Mello
Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family. Molecular genetics and genomics : MGG 295 (1) (2019)
Mara Sanches Guaragna, Anna Cristina G B Lutaif, Andréa T Maciel-Guerra, Vera M S Belangero, Gil Guerra Junior, Maricilda Palandi de Mello
NPHS2 Mutations: A Closer Look to Latin American Countries. BioMed research international 2017 (2017)