Mutation update for theNR5A1gene involved in DSD and infertility-Reference-Cited by-同舟云学术

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Mutation update for theNR5A1gene involved in DSD and infertility

Published:2019-09-27 Issue:1 Volume:41 Page:58-68
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Fabbri‐Scallet Helena¹^ORCID,Sousa Lizandra Maia¹^ORCID,Maciel‐Guerra Andréa Trevas²³^ORCID,Guerra‐Júnior Gil³⁴^ORCID,Mello Maricilda Palandi¹^ORCID

Affiliation:

1. Center for Molecular Biology and Genetic Engineering‐CBMEGState University of Campinas São Paulo Brazil

2. Department of Medical Genetics and Genomic Medicine, Faculty of Medical SciencesState University of Campinas São Paulo Brazil

3. Interdisciplinary Group for the Study of Sex Determination and Differentiation‐GIEDDSState University of Campinas São Paulo Brazil

4. Department of Pediatrics, Faculty of Medical SciencesState University of Campinas São Paulo Brazil

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23916

Reference98 articles.

1. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

2. Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner

3. Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

4. DSDs: genetics, underlying pathologies and psychosexual differentiation

5. Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

Cited by 64 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The genotype-phenotype correlation of NR5A1 variants in 46,XY individuals: a study protocol;2024-08-28

2. 46,ΧΥ DSD in an adolescent with a novel de novo variant of the NR5A1 gene - case report and literature review;Hormones;2024-07-25

3. Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features;Current Issues in Molecular Biology;2024-05-09

4. Toward clinical exomes in diagnostics and management of male infertility;The American Journal of Human Genetics;2024-05

5. Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development;Journal of Pediatric Endocrinology and Metabolism;2024-04-23

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