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authFullName_s : Sandrine Caburet

Human genetic of premature ovarian failure: a mendelian and candidate genes approach

Sandrine Caburet , Frank Batista , Paul Laissue , A. Veitia Reiner , Marc Fellous et al.
"The First Seven days: from gametes to blastocysts and stem cell". Serono Symposium, Apr 2006, Tampa, United States. 1 p., 2006
Conference poster hal-02816892v1

Allelic reduction of Dlx5 and Dlx6 results in early follicular depletion: a new mouse model of primary ovarian insufficiency.

Kamal Bouhali , Aurélie Dipietromaria , Anastasia Fontaine , Sandrine Caburet , Ottavia Barbieri et al.
Human Molecular Genetics, 2011, 20 (13), pp.2642-50. ⟨10.1093/hmg/ddr166⟩
Journal articles hal-00627689v1

Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait

Sandrine Caburet , Abdelkader Heddar , Elodie Dardillac , Héléne Creux , Marie Lambert et al.
Journal of Medical Genetics, 2020, pp.jmedgenet-2019-106672. ⟨10.1136/jmedgenet-2019-106672⟩
Journal articles hal-03044709v1

Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure

Sandrine Caburet , Petra Zavadakova , Ziva Ben-Neriah , Kamal Bouhali , Aurélie Dipietromaria et al.
PLoS ONE, 2012, 7 (3), pp.e33412. ⟨10.1371/journal.pone.0033412⟩
Journal articles hal-02135887v1

Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments

Romain Koszul , Sandrine Caburet , Bernard Dujon , Gilles Fischer
EMBO Journal, 2003, 23 (1), pp.234-243. ⟨10.1038/sj.emboj.7600024⟩
Journal articles pasteur-02868104v1

Forkhead transcription factors: key players in health and disease.

Bérénice A Benayoun , Sandrine Caburet , Reiner A Veitia
Trends in Genetics, 2011, 27 (6), pp.224-32. ⟨10.1016/j.tig.2011.03.003⟩
Journal articles istex hal-00625599v1

A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency.

Fabien Fauchereau , Stavit Shalev , Elana Chervinsky , Ronit Beck Fruchter , Bérengère Legois et al.
Clinical Genetics, 2016, ⟨10.1111/cge.12736⟩
Journal articles istex hal-01305507v1
Image document

Natural and molecular history of prolactinoma: insights from a Prlr-/- mouse model

Valérie Bernard , Chiara Villa , Aurelie Auguste , Sophie Lamothe , Anne Duvoid-Guillou et al.
Oncotarget, 2018, 9 (5), pp.6144-6155. ⟨10.18632/oncotarget.23713⟩
Journal articles hal-02046462v1
Image document

Plasma : plateforme d'e-learning pour l'analyse interactive de données

Jérémy Tuloup , Claire Vandiedonck , Sandrine Caburet , Pierre Poulain
Journées Réseaux de l'Enseignement et de la Recherche (JRES), May 2022, Marseille, France
Conference papers hal-03563658v2
Image document

A homozygous $FANCM$ mutation underlies a familial case of non-syndromic primary ovarian insufficiency

Baptiste Fouquet , Patrycja Pawlikowska , Sandrine Caburet , Céline Guigon , Marika Mäkinen et al.
eLife, 2017, 6, pp.e30490. ⟨10.7554/eLife.30490⟩
Journal articles hal-02391886v1
Image document

Functional Exploration of the Adult Ovarian Granulosa Cell Tumor-Associated Somatic FOXL2 Mutation p.Cys134Trp (c.402C>G)

Bérénice Benayoun , Sandrine Caburet , Aurélie Dipietromaria , Adrien Georges , Barbara d'Haene et al.
PLoS ONE, 2010, 5 (1), pp.e8789. ⟨10.1371/journal.pone.0008789⟩
Journal articles hal-02116167v1

A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations

Françoise Paris , Delphine Flatters , Sandrine Caburet , Bérangère Legois , Nadège Servant et al.
Clinical Endocrinology, 2017, 87 (5), pp.539 - 544. ⟨10.1111/cen.13420⟩
Journal articles hal-01758673v1

[STAG3 in premature ovarian failure].

Sandrine Caburet , Éric Vilain
médecine/sciences, 2015, 31 (2), pp.129-31. ⟨10.1051/medsci/20153102005⟩
Journal articles hal-01221279v1

Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: role of its regulation by the SIRT1 deacetylase.

Bérénice A Benayoun , Adrien B Georges , David L'Hôte , Noora Andersson , Aurélie Dipietromaria et al.
Human Molecular Genetics, 2011, epub ahead of print. ⟨10.1093/hmg/ddr042⟩
Journal articles hal-00566930v1

Conventional and unconventional interactions of the transcription factor FOXL2 uncovered by a proteome-wide analysis

May Penrad-Mobayed , Caroline Perrin , Laetitia Herman , Anne Laure Todeschini , Fabienne Nigon et al.
FASEB Journal, In press, ⟨10.1096/fj.201901573R⟩
Journal articles hal-02382698v1

The transcription factor FOXL2: At the crossroads of ovarian physiology and pathology.

Sandrine Caburet , Adrien Georges , David L'Hôte , Anne-Laure Todeschini , Bérénice A Benayoun et al.
Molecular and Cellular Endocrinology, 2011, epub ahead of print. ⟨10.1016/j.mce.2011.06.019⟩
Journal articles istex hal-00640037v1

Molecular analyses of juvenile granulosa cell tumors bearing AKT1 mutations provide insights into tumor biology and therapeutic leads.

Aurélie Auguste , Laurianne Bessière , Anne-Laure Todeschini , Sandrine Caburet , Sabine Sarnacki et al.
Human Molecular Genetics, 2015, 24 (23), pp.6687-98. ⟨10.1093/hmg/ddv373⟩
Journal articles hal-01266741v1

STAG3 is a strong candidate gene for male infertility.

Elena Llano , Laura Gomez-H , Ignacio García-Tuñón , Manuel Sánchez-Martín , Sandrine Caburet et al.
Human Molecular Genetics, 2014, epub ahead of print. ⟨10.1093/hmg/ddu051⟩
Journal articles hal-00992231v1

Generic binding sites, generic DNA-binding domains: where does specific promoter recognition come from?

Adrien B Georges , Bérénice A Benayoun , Sandrine Caburet , Reiner A Veitia
FASEB Journal, 2010, 24 (2), pp.346-56. ⟨10.1096/fj.09-142117⟩
Journal articles hal-00486339v1

Mutant cohesin in premature ovarian failure.

Sandrine Caburet , Valerie A Arboleda , Elena Llano , Paul A Overbeek , Jose Luis Barbero et al.
New England Journal of Medicine, 2014, 370 (10), pp.943-9. ⟨10.1056/NEJMoa1309635⟩
Journal articles hal-00992209v1
Image document

Combined comparative genomic hybridization and transcriptomic analyses of ovarian granulosa cell tumors point to novel candidate driver genes

Sandrine Caburet , Mikko Anttonen , Anne-Laure Todeschini , Leila Unkila-Kallio , Denis Mestivier et al.
BMC Cancer, 2015, 15 (1), ⟨10.1186/s12885-015-1283-0⟩
Journal articles hal-02119186v1

Extensive sequence turnover of the signal peptides of members of the GDF/BMP family: exploring their evolutionary landscape.

Reiner A Veitia , Sandrine Caburet
Biol Direct, 2009, 4, pp.22. ⟨10.1186/1745-6150-4-22⟩
Journal articles hal-00430016v1