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Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes

Elena J. Tucker , Katrina M. Bell , Gorjana Robevska , Jocelyn van den Bergen , Katie L. Ayers et al.
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00977-9⟩
Journal articles hal-03439473v1
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STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

Sylvie Jaillard , Kenneth Mcelreavy , Gorjana Robevska , Linda Akloul , Farah Ghieh et al.
Molecular Human Reproduction, 2020, 26 (9), pp.665-677. ⟨10.1093/molehr/gaaa050⟩
Journal articles hal-02929984v1
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LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

Anne-Sophie Neyroud , Joëlle Rudinger-Thirion , Magali Frugier , Lisa G Riley , Maud Bidet et al.
European Journal of Human Genetics, 2022, ⟨10.1038/s41431-022-01252-1⟩
Journal articles hal-03888946v1

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

Sylvie Jaillard , Séverine Drunat , Claude Bendavid , Azzedine Aboura , Amandine Etcheverry et al.
European Journal of Medical Genetics, 2010, 53 (2), pp.66-75. ⟨10.1016/j.ejmg.2009.10.002⟩
Journal articles istex inserm-00434932v1
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Ovarian response to stimulation for fertility preservation in women with hematologic cancer

Tiffany Brun , Ludivine Dion , Sylvie Jaillard , Diane Bales , Mathilde Domin et al.
Journal of Gynecology Obstetrics and Human Reproduction, 2021, 50 (5), pp.101925. ⟨10.1016/j.jogoh.2020.101925⟩
Journal articles hal-02964534v1
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The Landscape and Therapeutic Implications of Molecular Profiles in Epithelial Ovarian Cancer

Ludivine Dion , Isis Carton , Sylvie Jaillard , Krystel Nyangoh Timoh , Sébastien Henno et al.
Journal of Clinical Medicine, 2020, 9 (7), ⟨10.3390/jcm9072239⟩
Journal articles hal-02928442v1
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Performance of diagnostic ultrasound to identify causes of hydramnios

Marie-José Adam , Isabelle Enderle , Gwenaëlle Le Bouar , Anne-Sophie Cabaret-Dufour , C Tardif et al.
Prenatal Diagnosis, 2021, 41 (1), pp.111-122. ⟨10.1002/pd.5825⟩
Journal articles hal-02959737v1

Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.

Sylvie Jaillard , Philippe Loget , Josette Lucas , Christèle Dubourg , Gwenaelle Le Bouar et al.
European Journal of Medical Genetics, 2011, 54 (2), pp.186-8. ⟨10.1016/j.ejmg.2010.11.001⟩
Journal articles istex inserm-00543854v1
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New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

Sylvie Jaillard , K.W. Bell , Linda Akloul , K Walton , Kenneth Mcelreavy et al.
Maturitas, 2020, 141, pp.9-19. ⟨10.1016/j.maturitas.2020.06.004⟩
Journal articles hal-02931925v1

Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion.

Marina Blanchard , Christèle Dubourg , Laurent Pasquier , Sylvie Odent , Josette Lucas et al.
European Journal of Medical Genetics, 2014, 57 (5), pp.195-9. ⟨10.1016/j.ejmg.2013.12.010⟩
Journal articles hal-01009816v1
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2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Sylvie Jaillard , Christèle Dubourg , Marion Gérard-Blanluet , Andrée Delahaye , Laurent Pasquier et al.
Journal of Medical Genetics, 2009, 46 (12), pp.847-55. ⟨10.1136/jmg.2008.058156⟩
Journal articles inserm-00325658v1

Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency

Elena J. Tucker , Niklas Gutfreund , Marc-Antoine Belaud-Rotureau , David Gilot , Tiffany Brun et al.
Human Mutation, 2022, 43 (10), pp.1443-1453. ⟨10.1002/humu.24432⟩
Journal articles hal-03771906v1
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L’anonymat du don de gamètes à l’heure des tests génétiques

Anne-Sophie Neyroud , Mélanie Roche , Mathilde Domin , Sylvie Jaillard , Célia Ravel et al.
Gynécologie Obstétrique Fertilité & Sénologie, 2020, 48 (11), pp.820-826. ⟨10.1016/j.gofs.2020.06.006⟩
Journal articles hal-02888916v1
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Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia

Saloua Toujani , Elena J Tucker , Linda Akloul , Laura Mary , Céline Pimentel et al.
Cytogenetic and Genome Research, 2022, 162 (3), pp.124-131. ⟨10.1159/000524388⟩
Journal articles hal-03714551v1

Delineation of 15q13.3 microdeletions.

Alice Masurel-Paulet , Joris Andrieux , Patrick Callier , Jean-Marie Cuisset , Cédric Le Caignec et al.
Clinical Genetics, 2010, 78 (2), pp.149-61. ⟨10.1111/j.1399-0004.2010.01374.x⟩
Journal articles istex inserm-00466147v1

5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects.

Sylvie Jaillard , Joris Andrieux , Ghislaine Plessis , Ana Cv Krepischi , Josette Lucas et al.
American Journal of Medical Genetics Part A, 2011, 155A (4), pp.725-31. ⟨10.1002/ajmg.a.33758⟩
Journal articles istex inserm-00595096v1
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Granulosa cells provide elimination of apoptotic oocytes through unconventional autophagy-assisted phagocytosis

M.G. Yefimova , C Lefevre , Anu Bashamboo , C Eozenou , A Burel et al.
Human Reproduction, 2020, 35 (6), pp.1346-1362. ⟨10.1093/humrep/deaa097⟩
Journal articles hal-02888701v1

Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.

Alice Fievet , Marc-Antoine Belaud-Rotureau , Frédéric Dugay , Caroline Abadie , Catherine Henry et al.
European Journal of Medical Genetics, 2013, 56 (12), pp.643-7. ⟨10.1016/j.ejmg.2013.10.004⟩
Journal articles hal-00933759v1
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Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

Sylvie Jaillard , R. Sreenivasan , M. Beaumont , G. Robevska , C. Dubourg et al.
Maturitas, 2020, 131, pp.78-86. ⟨10.1016/j.maturitas.2019.10.011⟩
Journal articles hal-02399813v1
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Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Sandra Martin , Borja Rodríguez-Herreros , Jared Nielsen , Clara Moreau , Claudia Modenato et al.
Biological Psychiatry, 2018, 84 (4), pp.253 - 264. ⟨10.1016/j.biopsych.2018.02.1176⟩
Journal articles hal-01870357v1
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Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics

Laura Mary , Philippe Loget , Sylvie Odent , Dominique Aussel , Gwenaëlle Le Bouar et al.
Cytogenetic and Genome Research, 2021, 161 (3-4), pp.143-152. ⟨10.1159/000514592⟩
Journal articles hal-03215883v1