List of works - Mirian Yumie Nishi

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.

scientific article published on 6 May 2016

A 46,XX Testicular Disorder of Sex Development Caused by a Wilms' Tumour Factor-1 (WT1) Pathogenic Variant

article

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

scientific article published on 8 June 2017

A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency

article

A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome

scientific article (publication date: August 2011)

A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.

scientific article published on 24 October 2017

A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome

scientific article published on 22 July 2017

ARMC5Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia

article

Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis

article

Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules

scientific article published on 07 February 2020

Amplification of the insulin-like growth factor 1 receptor gene is a rare event in adrenocortical adenocarcinomas: searching for potential mechanisms of overexpression

scientific article

Androgen insensitivity syndrome: a review.

scientific article published in March 2018

Androgen receptor mRNA analysis from whole blood: a low-cost strategy for detection of androgen receptor gene splicing defects

scientific article published on 07 September 2018

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort

article

Baixa estatura por haploinsuficiência do gene SHOX: do diagnóstico ao tratamento

article

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.

scientific article

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

scientific article published on 01 May 2019

Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development

scientific article published in 2023

Detection of Y-specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method

scientific article published on 01 February 2002

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

scientific article

Disorders of sex development: effect of molecular diagnostics.

scientific article published on 05 May 2015

ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome

scientific article published on 01 November 2019

Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency

scientific article

Effects of Type 1 Insulin-Like Growth Factor Receptor Silencing in a Human Adrenocortical Cell Line

scientific article published on 31 May 2016

Evaluation of SHOX defects in the era of next-generation sequencing

scientific article published on 04 July 2019

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency

scientific article published on 01 July 2019

Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors.

scientific article published on 29 October 2008

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

scientific article

Familial hyperestrogenism in both sexes: clinical, hormonal, and molecular studies of two siblings.

scientific article

GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects

scientific article published on 10 October 2012

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing

scientific article published on 17 October 2019

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum

scientific article published on 01 December 2019

Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature

scientific article published on 22 December 2015

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

scientific article published on 29 April 2017

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature

scientific article

High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53

scientific article published on 07 March 2020

Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.

scientific article

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing

scientific article

Long-Term Outcomes and Molecular Analysis of a Large Cohort of Patients with 46,XY Disorder of Sex Development due to Partial Gonadal Dysgenesis.

scientific article published on 18 April 2018

Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling.

scientific article

Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome

scientific article published on 01 December 2019

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations

scientific article published on 22 July 2017

Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure

scientific article published on December 2016

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein

scientific article published on 01 May 2019

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.

scientific article published on 18 December 2003

Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.

scientific article published on 21 December 2017

Persistent Müllerian duct syndrome due to a mutation in the anti-Müllerian hormone receptor gene (AMHR2)

scientific article

Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency

scientific article published on May 2015

Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11 ⬇️

scholarly article by Luciana R Montenegro et al published March 2012 in European Journal of Endocrinology

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability

scientific article published on 01 January 2007

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

scientific article published on 23 October 2020

Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.

scientific article published on 15 January 2010

Sterol O-Acyl Transferase 1 as a Prognostic Marker of Adrenocortical Carcinoma

scientific article published on 19 January 2020

The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants

scientific article published on 12 August 2010

The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis

scientific article published on 26 November 2013

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency

scientific article published on 10 July 2018

Usefulness of MLPA in the detection of SHOX deletions

scientific article published on 09 June 2010

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals

scientific article published on December 2016

List of works by Mirian Yumie Nishi

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.

A 46,XX Testicular Disorder of Sex Development Caused by a Wilms' Tumour Factor-1 (WT1) Pathogenic Variant

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

A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency

A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome

A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.

A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome

ARMC5Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia

Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis

Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules

Amplification of the insulin-like growth factor 1 receptor gene is a rare event in adrenocortical adenocarcinomas: searching for potential mechanisms of overexpression

Androgen insensitivity syndrome: a review.

Androgen receptor mRNA analysis from whole blood: a low-cost strategy for detection of androgen receptor gene splicing defects

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort

Baixa estatura por haploinsuficiência do gene SHOX: do diagnóstico ao tratamento

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development

Detection of Y-specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method

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

Disorders of sex development: effect of molecular diagnostics.

ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome

Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency

Effects of Type 1 Insulin-Like Growth Factor Receptor Silencing in a Human Adrenocortical Cell Line

Evaluation of SHOX defects in the era of next-generation sequencing

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency

Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors.

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

Familial hyperestrogenism in both sexes: clinical, hormonal, and molecular studies of two siblings.

GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum

Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature

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

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature

High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53

Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing

Long-Term Outcomes and Molecular Analysis of a Large Cohort of Patients with 46,XY Disorder of Sex Development due to Partial Gonadal Dysgenesis.

Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling.

Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations

Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.

Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.

Persistent Müllerian duct syndrome due to a mutation in the anti-Müllerian hormone receptor gene (AMHR2)

Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency

Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11 ⬇️

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.

Sterol O-Acyl Transferase 1 as a Prognostic Marker of Adrenocortical Carcinoma

The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants

The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency

Usefulness of MLPA in the detection of SHOX deletions

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals