Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings
Authors
Keywords
-
Journal
Frontiers in Endocrinology
Volume 13, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2022-03-25
DOI
10.3389/fendo.2022.810782
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings
- (2021) Evgenia Globa et al. Sexual Development
- Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
- (2021) Natja Haag et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene
- (2020) Caroline Eozenou et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)
- (2019) Lowri A Hughes et al. Endocrine Connections
- A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation
- (2019) Fatma Dursun et al. Journal of Clinical Research in Pediatric Endocrinology
- New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development.
- (2019) Yufei Xu et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
- (2019) Ken McElreavey et al. GENETICS IN MEDICINE
- GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 "DSDnet"
- (2018) Laura Audí et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes
- (2018) Hao Wang et al. HUMAN GENETICS
- GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes
- (2018) Idoia Martinez de LaPiscina et al. Frontiers in Endocrinology
- Genetics of Disorders of Sex Development
- (2017) Emmanuèle C. Délot et al. ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
- Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development
- (2017) Ja Hye Kim et al. MOLECULAR AND CELLULAR ENDOCRINOLOGY
- Histological Assessment of Gonads in DSD: Relevance for Clinical Management
- (2017) Johannes A. Spoor et al. Sexual Development
- Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development
- (2017) Yanjie Fan et al. Scientific Reports
- TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
- (2016) Antonella Sferra et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Targeted next-generation sequencing identification of mutations in patients with disorders of sex development
- (2016) Yanling Dong et al. BMC Medical Genetics
- Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment
- (2016) Samim Özen et al. Hormone Research in Paediatrics
- Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care
- (2016) Peter A. Lee et al. Hormone Research in Paediatrics
- CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
- (2015) Lena Damaj et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- New Genomic Technologies: An Aid for Diagnosis of Disorders of Sex Development
- (2015) H. Barseghyan et al. HORMONE AND METABOLIC RESEARCH
- Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development
- (2015) Ruth M. Baxter et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive
- (2014) Qiu-Yue Wu et al. BMC Urology
- Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
- (2014) Luigi Laino et al. Endocrine Connections
- Translational Genetics for Diagnosis of Human Disorders of Sex Development
- (2013) Ruth M. Baxter et al. Annual Review of Genomics and Human Genetics
- The differential role of androgens in early human sex development
- (2013) Olaf Hiort BMC Medicine
- Understanding the genetic aetiology in patients with XY DSD
- (2013) S. F. Ahmed et al. BRITISH MEDICAL BULLETIN
- Trial of Recombinant Follicle-Stimulating Hormone Pretreatment for GnRH-Induced Fertility in Patients with Congenital Hypogonadotropic Hypogonadism
- (2013) Andrew A. Dwyer et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- The androgen receptor gene mutations database: 2012 update
- (2012) Bruce Gottlieb et al. HUMAN MUTATION
- Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations
- (2012) Nicolas Kalfa et al. PLoS One
- Gonadal Development and Tumor Formation at the Crossroads of Male and Female Sex Determination
- (2011) M. Cools et al. Sexual Development
- WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
- (2010) Hyung-Goo Kim et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Clinical findings in patients with GLI2 mutations - phenotypic variability
- (2010) CDP Bertolacini et al. CLINICAL GENETICS
- Mutation in theTBCEGene Is Associated with Hypoparathyroidism-Retardation-Dysmorphism Syndrome Featuring Pituitary Hormone Deficiencies and Hypoplasia of the Anterior Pituitary and the Corpus Callosum
- (2009) Raja Padidela et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search