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Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.
Published in:
Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0098-2
By:
- Ayers, Katie L.;
- Bouty, Aurore;
- Robevska, Gorjana;
- van den Bergen, Jocelyn A.;
- Juniarto, Achmad Zulfa;
- Listyasari, Nurin Aisyiyah;
- Sinclair, Andrew H.;
- Faradz, Sultana M. H.
Publication type:
Article
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3328, doi. 10.1210/clinem/dgac528
By:
- Tucker, Elena J.;
- Baker, Megan J.;
- Hock, Daniella H.;
- Warren, Julia T.;
- Jaillard, Sylvie;
- Bell, Katrina M.;
- Sreenivasan, Rajini;
- Bakhshalizadeh, Shabnam;
- Hanna, Chloe A.;
- Caruana, Nikeisha J.;
- Wortmann, Saskia B.;
- Rahman, Shamima;
- Pitceathly, Robert D. S.;
- Donadieu, Jean;
- Alimi, Aurelia;
- Launay, Vincent;
- Coppo, Paul;
- Christin-Maitre, Sophie;
- Robevska, Gorjana;
- van den Bergen, Jocelyn
Publication type:
Article
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Published in:
Human Genetics, 2023, v. 142, n. 7, p. 879, doi. 10.1007/s00439-023-02563-z
By:
- Bakhshalizadeh, Shabnam;
- Hock, Daniella H.;
- Siddall, Nicole A.;
- Kline, Brianna L.;
- Sreenivasan, Rajini;
- Bell, Katrina M.;
- Casagranda, Franca;
- Kamalanathan, Sadishkumar;
- Sahoo, Jayaprakash;
- Narayanan, Niya;
- Naik, Dukhabandhu;
- Suryadevara, Varun;
- Compton, Alison G.;
- Amarasekera, Sumudu S. C.;
- Kapoor, Ridam;
- Jaillard, Sylvie;
- Simpson, Andrea;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Pachernegg, Svenja
Publication type:
Article
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Published in:
Human Genetics, 2020, v. 139, n. 10, p. 1325, doi. 10.1007/s00439-020-02176-w
By:
- Tucker, Elena J.;
- Rius, Rocio;
- Jaillard, Sylvie;
- Bell, Katrina;
- Lamont, Phillipa J.;
- Travessa, André;
- Dupont, Juliette;
- Sampaio, Lurdes;
- Dulon, Jérôme;
- Vuillaumier-Barrot, Sandrine;
- Whalen, Sandra;
- Isapof, Arnaud;
- Stojkovic, Tanya;
- Quijano-Roy, Susana;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Hanna, Chloe;
- Simpson, Andrea;
- Ayers, Katie;
- Thorburn, David R.
Publication type:
Article
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Published in:
Molecular Human Reproduction, 2020, v. 26, n. 9, p. 665, doi. 10.1093/molehr/gaaa050
By:
- Jaillard, Sylvie;
- McElreavy, Kenneth;
- Robevska, Gorjana;
- Akloul, Linda;
- Ghieh, Farah;
- Sreenivasan, Rajini;
- Beaumont, Marion;
- Bashamboo, Anu;
- Bignon-Topalovic, Joelle;
- Neyroud, Anne-Sophie;
- Bell, Katrina;
- Veron-Gastard, Elisabeth;
- Launay, Erika;
- van den Bergen, Jocelyn;
- Nouyou, Bénédicte;
- Vialard, François;
- Belaud-Rotureau, Marc-Antoine;
- Ayers, Katie L;
- Odent, Sylvie;
- Ravel, Célia
Publication type:
Article
Dynamic Regulation of Mitotic Arrest in Fetal Male Germ Cells.
Published in:
Stem Cells, 2008, v. 26, n. 2, p. 339, doi. 10.1634/stemcells.2007-0622
By:
- Western, Patrick S.;
- Miles, Denise C.;
- Van Den Bergen, Jocelyn A.;
- Burton, Matt;
- Sinclair, Andrew H.
Publication type:
Article
Dppa2 and Dppa4 Are Closely Linked SAP Motif Genes Restricted to Pluripotent Cells and the Germ Line.
Published in:
Stem Cells, 2007, v. 25, n. 1, p. 19, doi. 10.1634/stemcells.2006-0269
By:
- MALDONADO-SALDIVIA, JOANNA;
- VAN DEN BERGEN, JOCELYN;
- KROUSKOS, MARGARITA;
- GILCHRIST, MIKE;
- LEE, CAROLINE;
- RUILI LI;
- SINCLAIR, ANDREW H.;
- SURANI, M. AZIM;
- WESTERN, PATRICK S.
Publication type:
Article
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Published in:
2023
By:
- Ayers, Katie L.;
- Eggers, Stefanie;
- Rollo, Ben N.;
- Smith, Katherine R.;
- Davidson, Nadia M.;
- Siddall, Nicole A.;
- Zhao, Liang;
- Bowles, Josephine;
- Weiss, Karin;
- Zanni, Ginevra;
- Burglen, Lydie;
- Ben-Shachar, Shay;
- Rosensaft, Jenny;
- Raas-Rothschild, Annick;
- Jørgensen, Anne;
- Schittenhelm, Ralf B.;
- Huang, Cheng;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Casagranda, Franca
Publication type:
Correction Notice
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0
By:
- Ayers, Katie L.;
- Eggers, Stefanie;
- Rollo, Ben N.;
- Smith, Katherine R.;
- Davidson, Nadia M.;
- Siddall, Nicole A.;
- Zhao, Liang;
- Bowles, Josephine;
- Weiss, Karin;
- Zanni, Ginevra;
- Burglen, Lydie;
- Ben-Shachar, Shay;
- Rosensaft, Jenny;
- Raas-Rothschild, Annick;
- Jørgensen, Anne;
- Schittenhelm, Ralf B.;
- Huang, Cheng;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Casagranda, Franca
Publication type:
Article
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0
By:
- Ayers, Katie L.;
- Eggers, Stefanie;
- Rollo, Ben N.;
- Smith, Katherine R.;
- Davidson, Nadia M.;
- Siddall, Nicole A.;
- Zhao, Liang;
- Bowles, Josephine;
- Weiss, Karin;
- Zanni, Ginevra;
- Burglen, Lydie;
- Ben-Shachar, Shay;
- Rosensaft, Jenny;
- Raas-Rothschild, Annick;
- Jørgensen, Anne;
- Schittenhelm, Ralf B.;
- Huang, Cheng;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Casagranda, Franca
Publication type:
Article
Signaling through the TGF Beta-Activin Receptors ALK4/ 5/7 Regulates Testis Formation and Male Germ Cell Development.
Published in:
PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054606
By:
- Miles, Denise C.;
- Wakeling, Stephanie I.;
- Stringer, Jessica M.;
- Van den Bergen, Jocelyn A.;
- Wilhelm, Dagmar;
- Sinclair, Andrew H.;
- Western, Patrick S.
Publication type:
Article
Mitotic Arrest in Teratoma Susceptible Fetal Male Germ Cells.
Published in:
PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020736
By:
- Western, Patrick S.;
- Ralli, Rachael A.;
- Wakeling, Stephanie I.;
- Lo, Camden;
- van den Bergen, Jocelyn A.;
- Miles, Denise C.;
- Sinclair, Andrew H.
Publication type:
Article
Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis.
Published in:
PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017793
By:
- White, Stefan;
- Ohnesorg, Thomas;
- Notini, Amanda;
- Roeszler, Kelly;
- Hewitt, Jacqueline;
- Daggag, Hinda;
- Smith, Craig;
- Turbitt, Erin;
- Gustin, Sonja;
- van den Bergen, Jocelyn;
- Miles, Denise;
- Western, Patrick;
- Arboleda, Valerie;
- Schumacher, Valerie;
- Gordon, Lavinia;
- Bell, Katrina;
- Bengtsson, Henrik;
- Speed, Terry;
- Hutson, John;
- Warne, Garry
Publication type:
Article
Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias.
Published in:
Journal of the Endocrine Society, 2019, v. 3, n. 4, p. 814, doi. 10.1210/js.2018-00333
By:
- Bouty, Aurore;
- Walton, Kelly;
- Listyasari, Nurin Aisyiyah;
- Robevska, Gorjana;
- Bergen, Jocelyn Van den;
- Santosa, Ardy;
- Faradz, Sultana M H;
- Harrison, Craig;
- Ayers, Katie L;
- Sinclair, Andrew H
Publication type:
Article
Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Published in:
2019
By:
- Croft, Brittany;
- Ohnesorg, Thomas;
- Hewitt, Jacqueline;
- Bowles, Josephine;
- Quinn, Alexander;
- Tan, Jacqueline;
- Corbin, Vincent;
- Pelosi, Emanuele;
- van den Bergen, Jocelyn;
- Sreenivasan, Rajini;
- Knarston, Ingrid;
- Robevska, Gorjana;
- Vu, Dung Chi;
- Hutson, John;
- Harley, Vincent;
- Ayers, Katie;
- Koopman, Peter;
- Sinclair, Andrew
Publication type:
Correction Notice
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07784-9
By:
- Croft, Brittany;
- Ohnesorg, Thomas;
- Hewitt, Jacky;
- Bowles, Josephine;
- Quinn, Alexander;
- Tan, Jacqueline;
- Corbin, Vincent;
- Pelosi, Emanuele;
- van den Bergen, Jocelyn;
- Sreenivasan, Rajini;
- Knarston, Ingrid;
- Robevska, Gorjana;
- Vu, Dung Chi;
- Hutson, John;
- Harley, Vincent;
- Ayers, Katie;
- Koopman, Peter;
- Sinclair, Andrew
Publication type:
Article
Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.
Published in:
Sexual Development, 2023, v. 17, n. 1, p. 8, doi. 10.1159/000527754
By:
- Robevska, Gorjana;
- Hanna, Chloe;
- van den Bergen, Jocelyn;
- Welch, John;
- Couper, Jennifer;
- Harris, Shannon;
- Joshi, Kriti;
- Brown, Justin;
- Sabin, Matthew;
- Sinclair, Andrew;
- O'Connell, Michele;
- Ayers, Katie
Publication type:
Article
Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches.
Published in:
Sexual Development, 2019, v. 13, n. 1, p. 26, doi. 10.1159/000494896
By:
- Backhouse, Brendan;
- Hanna, Chloe;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Pelosi, Emanuele;
- Simons, Cas;
- Koopman, Peter;
- Juniarto, a. Zulfa;
- Grover, Sonia;
- Faradz, Sultana;
- Sinclair, andrew;
- ayers, Katie;
- Tan, Tiong Y.
Publication type:
Article
miR-126-3p Promotes Matrix-Dependent Perivascular Cell Attachment, Migration and Intercellular Interaction.
Published in:
Stem Cells, 2016, v. 34, n. 5, p. 1297, doi. 10.1002/stem.2308
By:
- Pitzler, Lena;
- Auler, Markus;
- Probst, Kristina;
- Frie, Christian;
- Bergmeier, Vera;
- Holzer, Tatjana;
- Etich, Julia;
- Ehlen, Harald;
- Brachvogel, Bent;
- Paulsson, Mats;
- Belluoccio, Daniele;
- van den Bergen, Jocelyn;
- Zhou, Zhigang;
- Pöschl, Ernst;
- Bielke, Wolfgang
Publication type:
Article
Male fetal germ cell differentiation involves complex repression of the regulatory network controlling pluripotency.
Published in:
FASEB Journal, 2010, v. 24, n. 8, p. 3026, doi. 10.1096/fj.09-151555
By:
- Western, Patrick S.;
- Van den Bergen, Jocelyn A.;
- Miles, Denise C.;
- Sinclair, Andrew H.
Publication type:
Article
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.
Published in:
Clinical Genetics, 2024, v. 106, n. 3, p. 321, doi. 10.1111/cge.14543
By:
- Tucker, Elena J.;
- Sharp, Michael F.;
- Lokchine, Anna;
- Bell, Katrina M.;
- Palmer, Catherine S.;
- Kline, Brianna L.;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Dulon, Jérôme;
- Stojanovski, Diana;
- Ayers, Katie L.;
- Touraine, Philippe;
- Crismani, Wayne;
- Jaillard, Sylvie;
- Sinclair, Andrew H.
Publication type:
Article
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 277, doi. 10.1111/cge.14261
By:
- Croft, Brittany;
- Bird, Anthony D.;
- Ono, Makoto;
- Eggers, Stefanie;
- Bagheri‐Fam, Stefan;
- Ryan, Janelle M.;
- Reyes, Alejandra P.;
- van den Bergen, Jocelyn;
- Baxendale, Anne;
- Thompson, Elizabeth M.;
- Kueh, Andrew J.;
- Stanton, Peter;
- Thomas, Tim;
- Sinclair, Andrew H.;
- Harley, Vincent R.
Publication type:
Article
Annexin XI co‐localises with calcyclin in proliferating cells of the embryonic mouse testis.
Published in:
Developmental Dynamics, 2005, v. 234, n. 2, p. 432
By:
- Louise H. Williams;
- Peter J. McClive;
- Jocelyn A. Van Den Bergen;
- Andrew H. Sinclair
Publication type:
Article
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Published in:
Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1105-y
By:
- Eggers, Stefanie;
- Sadedin, Simon;
- van den Bergen, Jocelyn A.;
- Robevska, Gorjana;
- Ohnesorg, Thomas;
- Hewitt, Jacqueline;
- Lambeth, Luke;
- Bouty, Aurore;
- Knarston, Ingrid M.;
- Tiong Yang Tan;
- Cameron, Fergus;
- Werther, George;
- Hutson, John;
- O?Connell, Michele;
- Grover, Sonia R.;
- Heloury, Yves;
- Zacharin, Margaret;
- Bergman, Philip;
- Kimber, Chris;
- Brown, Justin
Publication type:
Article
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Published in:
Human Mutation, 2022, v. 43, n. 10, p. 1443, doi. 10.1002/humu.24432
By:
- Tucker, Elena J.;
- Gutfreund, Niklas;
- Belaud‐Rotureau, Marc‐Antoine;
- Gilot, David;
- Brun, Tiffany;
- Kline, Brianna L.;
- Bell, Katrina M.;
- Domin‐Bernhard, Mathilde;
- Théard, Camille;
- Touraine, Philippe;
- Robevska, Gorjana;
- van van den Bergen, Jocelyn;
- Ayers, Katie L.;
- Sinclair, Andrew H.;
- Dötsch, Volker;
- Jaillard, Sylvie
Publication type:
Article
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Published in:
Human Mutation, 2018, v. 39, n. 1, p. 124, doi. 10.1002/humu.23354
By:
- Robevska, Gorjana;
- van den Bergen, Jocelyn A.;
- Ohnesorg, Thomas;
- Eggers, Stefanie;
- Hanna, Chloe;
- Hersmus, Remko;
- Thompson, Elizabeth M.;
- Baxendale, Anne;
- Verge, Charles F.;
- Lafferty, Antony R.;
- Marzuki, Nanis S.;
- Santosa, Ardy;
- Listyasari, Nurin A.;
- Riedl, Stefan;
- Warne, Garry;
- Looijenga, Leendert;
- Faradz, Sultana;
- Ayers, Katie L.;
- Sinclair, Andrew H.
Publication type:
Article
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.
Published in:
Genes, 2024, v. 15, n. 3, p. 333, doi. 10.3390/genes15030333
By:
- Bakhshalizadeh, Shabnam;
- Bird, Anthony D.;
- Sreenivasan, Rajini;
- Bell, Katrina M.;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Asghari-Jafarabadi, Mohammad;
- Kueh, Andrew J.;
- Touraine, Philippe;
- Lokchine, Anna;
- Jaillard, Sylvie;
- Ayers, Katie L.;
- Wilhelm, Dagmar;
- Sinclair, Andrew H.;
- Tucker, Elena J.
Publication type:
Article
A novel, homozygous mutation in <italic>desert hedgehog</italic> (<italic>DHH</italic>) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report.
Published in:
2018
By:
- Rothacker, Karen M.;
- Ayers, Katie L.;
- Tang, Dave;
- Joshi, Kiranjit;
- van den Bergen, Jocelyn A.;
- Robevska, Gorjana;
- Samnakay, Naeem;
- Nagarajan, Lakshmi;
- Francis, Kate;
- Sinclair, Andrew H.;
- Choong, Catherine S.
Publication type:
Case Study

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