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Mirian Y. Nishi
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Journal Articles

Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Barbara Leitao Braga, Nathalia Lisboa Gomes, Mirian Y. Nishi, Bruna L. Freire, Rafael L. Batista, Jose A. D. Faria Junior, Mariana F.A. Funari, Anna F. Figueredo Benedetti, Amanda de Moraes Narcizo, Lais Cavalca Cardoso, Antonio M. Lerario, Gil Guerra-Junior, Elaine M. Frade Costa, Sorahia Domenice, Alexander A.L. Jorge, Berenice B. Mendonca
Journal: Sexual Development
Sex Dev (2022) 16 (1): 27–33.
https://doi.org/10.1159/000518091
Published Online: 09 September 2021
View articletitled, Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias
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Journal Articles

WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Maria T.M. Ferrari, Andreia Watanabe, Thatiane E. da Silva, Nathalia L. Gomes, Rafael L. Batista, Mirian Y. Nishi, Leila C.P. de Paula, Eduardo C. Costa, Elaine M.F. Costa, Priscilla Cukier, Luiz F. Onuchic, Berenice B. Mendonca, Sorahia Domenice
Journal: Sexual Development
Sex Dev (2022) 16 (1): 46–54.
https://doi.org/10.1159/000517373
Published Online: 13 August 2021
View articletitled, WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease
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Journal Articles

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Monica M. França, Antonio M. Lerario, Mariana F.A. Funari, Mirian Y. Nishi, Amanda M. Narcizo, Maricilda P. de Mello, Gil Guerra-Junior, Andrea T. Maciel-Guerra, Berenice B. Mendonça
Journal: Sexual Development
Sex Dev (2017) 11 (3): 137–142.
https://doi.org/10.1159/000477193
Published Online: 08 June 2017
View articletitled, A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family
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Journal Articles

Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Rafael L. Batista, Andresa S. Rodrigues, Mirian Y. Nishi, Alina C.R. Feitosa, Nathália L.R.A. Gomes, José Antonia F. Junior, Sorahia Domenice, Elaine M.F. Costa, Berenice B. de Mendonça
Journal: Sexual Development
Sex Dev (2017) 11 (2): 78–81.
https://doi.org/10.1159/000468957
Published Online: 29 April 2017
View articletitled, Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype
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Journal Articles

Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients

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Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Mónica Fernández-Cancio, Emilio García-García, Carmen González-Cejudo, María-Angeles Martínez-Maestre, Miguel-Angel Mangas-Cruz, Gil Guerra-Junior, Maricilda Pandi de Mello, Ivo J.P. Arnhold, Mirian Y. Nishi, Berenice Bilharinho Mendonça, Elena García-Arumí, Laura Audí, Eduardo Tizzano, Antonio Carrascosa
Journal: Sexual Development
Sex Dev (2017) 11 (2): 70–77.
https://doi.org/10.1159/000468160
Published Online: 04 April 2017
View articletitled, Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients
Open the PDF for Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients in another window