Accès ouvert
2026
article
OpenAlex
Gabby Atlas, Katrina M. Bell, Gorjana Robevska, Jocelyn van den Bergen et autres
INTRODUCTION: Diagnostic copy number variants (CNVs) have been detected in up to 30% of individuals with DSD. Tools have been developed to detect CNVs from exome/genome sequencing. METHODS: Sequencing data from a cohort of individuals with DSD were re-analysed through a CNV-caller …
au, id
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Accès ouvert
2025
article
OpenAlex
Gabby Atlas, Jocelyn van den Bergen, Gorjana Robevska, Katrina M. Bell et autres
Abstract Disclosure: G. Atlas: None. J. Van den Bergen: None. G. Robevska: None. K. Bell: None. E. Tucker: None. C. Hanna: None. M.A. O'Connell: None. T.Y. Tan: None. A.H. Sinclair: None. K. Ayers: None. Aims: Currently a genetic diagnosis is found for …
au
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Accès ouvert
2025
article
OpenAlex
Firman P Idris, Jocelyn van den Bergen, Gorjana Robevska, Lucas G. A. Ferreira et autres
In mammals, male sexual development is initiated by the expression of the Sex-determining-Region-Y (SRY) gene. SRY contains a highly conserved high mobility group (HMG) box essential for DNA binding and activity. Variants in SRY cause Differences of Sex Development (DSD), accounting for …
au, br, nl
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Accès ouvert
2024
article
OpenAlex
Elena J. Tucker, Michael F. Sharp, Anna Lokchine, Katrina M. Bell et autres
Premature ovarian insufficiency is a common form of female infertility affecting up to 4% of women and characterised by amenorrhea with elevated gonadotropin before the age of 40. Oocytes require controlled DNA breakage and repair for homologous recombination and the maintenance of …
au, fr
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Accès ouvert
2024
article
OpenAlex
Shabnam Bakhshalizadeh, Fateme Afkhami, Katrina M. Bell, Gorjana Robevska et autres
RESEARCH QUESTION: Premature ovarian insufficiency (POI) is characterised by amenorrhea associated with elevated follicle stimulating hormone (FSH) under the age of 40 years and affects 1-3.7% women. Genetic factors explain 20-30% of POI cases, but most causes remain unknown despite genomic advancements. …
au, ir, fr, gb
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Accès ouvert
2024
article
OpenAlex
Shabnam Bakhshalizadeh, Anthony D. Bird, Rajini Sreenivasan, Katrina M. Bell et autres
Disruption of meiosis and DNA repair genes is associated with female fertility disorders like premature ovarian insufficiency (POI). In this study, we identified a homozygous missense variant in the HELQ gene (c.596 A>C; p.Gln199Pro) through whole exome sequencing in a POI patient, …
au, fr
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Accès ouvert
2023
erratum
OpenAlex
Katie Ayers, Stefanie Eggers, Ben Rollo, Katherine R. Smith et autres
Author notes Melanie Bahlo Present address: Department of Medical Biology, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, VIC, Australia Authors and Affiliations The Murdoch Children’s Research Institute, Melbourne, VIC, Australia Katie L. Ayers, Gorjana Robevska, Jocelyn van den …
au, il, it, fr, dk, Tunisie
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Accès ouvert
2023
article
OpenAlex
Katie Ayers, Stefanie Eggers, Ben Rollo, Katherine R. Smith et autres
Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome. Here, we identify recessive variants in SART3 in nine individuals presenting with intellectual disability, global developmental …
au, il, it, fr, dk, Tunisie
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Accès ouvert
2023
article
OpenAlex
Shabnam Bakhshalizadeh, Daniella H. Hock, Nicole A. Siddall, Brianna L. Kline et autres
Premature ovarian insufficiency (POI) is a common cause of infertility in women, characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases, POI is syndromic in association with other features such as sensorineural hearing loss in Perrault …
au, in, fr
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2023
article
OpenAlex
Gorjana Robevska, Chloe Hanna, Jocelyn van den Bergen, John Welch et autres
INTRODUCTION: Steroid 5-alpha reductase deficiency (5α-R2D) is a rare condition caused by genetic variants that reduce the activity of the enzyme that converts testosterone into dihydrotestosterone. The clinical spectrum of 5α-R2D is known to overlap with other 46,XY differences of sex development …
au
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Accès ouvert
2022
article
OpenAlex
Brianna L. Kline, Sylvie Jaillard, Katrina M. Bell, Shabnam Bakhshalizadeh et autres
The mitochondrial ribosome is critical to mitochondrial protein synthesis. Defects in both the large and small subunits of the mitochondrial ribosome can cause human disease, including, but not limited to, cardiomyopathy, hypoglycaemia, neurological dysfunction, sensorineural hearing loss and premature ovarian insufficiency (POI). …
au, fr
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Accès ouvert
2022
article
OpenAlex
Brittany Croft, Anthony D. Bird, Makoto Ono, Stefanie Eggers et autres
Abstract 46,XY gonadal dysgenesis (GD) is a Disorder/Difference of Sex Development (DSD) that can present with phenotypes ranging from ambiguous genitalia to complete male‐to‐female sex reversal. Around 50% of 46,XY DSD cases receive a molecular diagnosis. In mice, Fibroblast growth factor 9 …
au, jp
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