about
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short statureA novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndromeCombined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.Familial hyperestrogenism in both sexes: clinical, hormonal, and molecular studies of two siblings.Amplification of the insulin-like growth factor 1 receptor gene is a rare event in adrenocortical adenocarcinomas: searching for potential mechanisms of overexpressionFGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficienciesMutation analysis of NANOS3 in Brazilian women with primary ovarian failureWide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.Disorders of sex development: effect of molecular diagnostics.Effects of Type 1 Insulin-Like Growth Factor Receptor Silencing in a Human Adrenocortical Cell Line.46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency.Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors.The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis.Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling.A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.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.A recurrent synonymous mutation in the human androgen receptor gene causing complete 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.A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.Long-Term Outcomes and Molecular Analysis of a Large Cohort of Patients with 46,XY Disorder of Sex Development due to Partial Gonadal Dysgenesis.GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.Androgen insensitivity syndrome: a review.[Persistent Müllerian duct syndrome due to a mutation in the anti-Müllerian hormone receptor gene (AMHR2)].Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.A 46,XX Testicular Disorder of Sex Development Caused by a Wilms' Tumour Factor-1 (WT1) Pathogenic VariantSHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variabilityARMC5Mutations Are a Frequent Cause of Primary Macronodular Adrenal HyperplasiaAutosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohortAbsence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesisUsefulness of MLPA in the detection of SHOX deletionsBaixa estatura por haploinsuficiência do gene SHOX: do diagnóstico ao tratamentoDetection of Y-specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Mirian Yumie Nishi
@ast
Mirian Yumie Nishi
@en
Mirian Yumie Nishi
@es
Mirian Yumie Nishi
@nl
Mirian Yumie Nishi
@sl
type
label
Mirian Yumie Nishi
@ast
Mirian Yumie Nishi
@en
Mirian Yumie Nishi
@es
Mirian Yumie Nishi
@nl
Mirian Yumie Nishi
@sl
prefLabel
Mirian Yumie Nishi
@ast
Mirian Yumie Nishi
@en
Mirian Yumie Nishi
@es
Mirian Yumie Nishi
@nl
Mirian Yumie Nishi
@sl
P1053
C-5144-2012
P106
P21
P31
P3829
P496
0000-0001-6603-3188
P569
2000-01-01T00:00:00Z