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Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37

Housna Zidoune , Laetitia Martinerie , Daisylyn Tan , Masomeh Askari , Djalila Rezgoune , et al.
Sexual Development, 2021, 15 (4), pp.244-252. ⟨10.1159/000515924⟩
Article dans une revue pasteur-03521814v1

SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis

Sophie Lambert , Matthieu Peycelon , Dinane Samara-Boustani , Capucine Hyon , Laurence Dumeige , et al.
Clinical Endocrinology, 2021, 94 (4), pp.667-676. ⟨10.1111/cen.14389⟩
Article dans une revue inserm-03790574v1

Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case

Khouloud Rjiba , Najla Soyah , Molka Kammoun , Imen Hadj Hmida , Ali Saad , et al.
European Journal of Medical Genetics, 2021, 64 (9), pp.104285. ⟨10.1016/j.ejmg.2021.104285⟩
Article dans une revue pasteur-03521819v1
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Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

Raja Brauner , Joelle Bignon-Topalovic , Anu Bashamboo , Ken Mcelreavey
PLoS ONE, 2020, 15 (12), pp.e0242358. ⟨10.1371/journal.pone.0242358⟩
Article dans une revue pasteur-03263613v1
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Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

Housna Zidoune , Asmahane Ladjouze , Djalila Chellat-Rezgoune , Asma Boukri , Scheher Aman Dib , et al.
Frontiers in Genetics, 2022, 13, pp.900574. ⟨10.3389/fgene.2022.900574⟩
Article dans une revue hal-04150372v1

Genetics of 46,XY gonadal dysgenesis

Maëva Elzaiat , Ken Mcelreavey , Anu Bashamboo
Best Practice and Research: Clinical Endocrinology and Metabolism, 2022, 36 (1), pp.101633. ⟨10.1016/j.beem.2022.101633⟩
Article dans une revue hal-04150390v1
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DHX37 and 46, XY DSD : A new Ribosomopathy?

Kenneth Mcelreavey , Eric Pailhoux , Anu Bashamboo
Sexual Development, 2022, pp. 1-13. ⟨10.1159/000522004⟩
Article dans une revue hal-03763397v1

A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis

Inas Mazen , Alaa Kamel , Kenneth Mcelreavey , Anu Bashamboo , Aya Elaidy , et al.
Sexual Development, 2023, 16 (4), pp.261-265. ⟨10.1159/000520366⟩
Article dans une revue hal-04150451v1
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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Katie Ayers , Stefanie Eggers , Ben Rollo , Katherine Smith , Nadia Davidson , et al.
Nature Communications, 2023, 14 (1), pp.3403. ⟨10.1038/s41467-023-39040-0⟩
Article dans une revue hal-04150348v1
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Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings

Evgenia Globa , Natalia Zelinska , Yulia Shcherbak , Joelle Bignon-Topalovic , Anu Bashamboo , et al.
Frontiers in Endocrinology, 2022, 13, pp.810782. ⟨10.3389/fendo.2022.810782⟩
Article dans une revue hal-04150382v1

The TALE homeodomain of PBX1 is involved in human primary testis‐determination

Caroline Eozenou , Anu Bashamboo , Joelle Bignon-Topalovic , Tiphanie Merel , Oliver Zwermann , et al.
Human Mutation, 2019, 40 (8), pp.1071-1076. ⟨10.1002/humu.23780⟩
Article dans une revue pasteur-03264066v1
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FOXL2 is a Progesterone Target Gene in the Endometrium of Ruminants

Caroline Eozenou , Audrey Lesage-Padilla , Vincent Mauffré , Gareth Healey , Sylvaine Camous , et al.
International Journal of Molecular Sciences, 2020, 21 (4), pp.1478. ⟨10.3390/ijms21041478⟩
Article dans une revue hal-02891695v1
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A conserved NR5A1-responsive enhancer regulates SRY in testis-determination

Denis Houzelstein , Caroline Eozenou , Carlos F Lagos , Maëva Elzaiat , Joelle Bignon-Topalovic , et al.
Nature Communications, 2024, 15 (1), pp.2796. ⟨10.1038/s41467-024-47162-2⟩
Article dans une revue hal-04583192v1
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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Ken Mcelreavey , Anne Jørgensen , Caroline Eozenou , Tiphanie Merel , Joelle Bignon-Topalovic , et al.
Genetics in Medicine, 2020, 22 (1), pp.150-159. ⟨10.1038/s41436-019-0606-y⟩
Article dans une revue pasteur-02376177v1
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In vitro cellular reprogramming to model gonad development and its disorders

Nitzan Gonen , Caroline Eozenou , Richard Mitter , Maëva Elzaiat , Isabelle Stévant , et al.
Science Advances , 2023, 9 (1), pp.eabn9793. ⟨10.1126/sciadv.abn9793⟩
Article dans une revue hal-04150365v1
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Monogenic forms of DSD: An update

Ken Mcelreavey , Anu Bashamboo
Hormone Research in Paediatrics, 2021, ⟨10.1159/000521381⟩
Article dans une revue pasteur-03521800v1
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Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism

Raja Brauner , Joelle Bignon-Topalovic , Anu Bashamboo , Ken Mcelreavey
Frontiers in Pediatrics, 2021, 9, pp.641397. ⟨10.3389/fped.2021.641397⟩
Article dans une revue pasteur-03263606v1