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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

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Majdi Nagara , Gregory Papagregoriou , Rim Ben Abdallah , Zied Landoulsi , Yosra Bouyacoub , et al.
European Journal of Medical Genetics, 2018, 61 (1), pp.1--7. ⟨10.1016/j.ejmg.2017.10.002⟩
Article dans une revue hal-01876288v1
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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⟩
Article dans une revue hal-02929984v1

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

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

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

Inas Mazen , Mona Mekkawy , Alaa Kamel , Mona Essawi , Heba Hassan , et al.
American Journal of Medical Genetics Part A, 2021, 185 (6), pp.1666-1677. ⟨10.1002/ajmg.a.62129⟩
Article dans une revue pasteur-03263623v1
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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
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Dengue virus NS1 protein conveys pro‐inflammatory signals by docking onto high‐density lipoproteins

Souheyla Benfrid , Kyu‐ho Park , Mariano Dellarole , James Voss , Carole Tamietti , et al.
EMBO Reports, 2022, 23 (7), pp.e53600. ⟨10.15252/embr.202153600⟩
Article dans une revue pasteur-03698274v1
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The evolving role of whole-exome sequencing in the management of disorders of sex development

Yardena Tenenbaum-Rakover , Osnat Admoni , Ghadir Elias-Assad , Shira London , Marie Noufi-Barhoum , et al.
Endocrine Connections, 2021, 10 (6), pp.620-629. ⟨10.1530/EC-21-0019⟩
Article dans une revue pasteur-03521822v1

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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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⟩
Article dans une revue hal-02888701v1
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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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Deciphering the molecular mechanisms of gonadal development

Sandra Elena Rojo Mendoza
Human genetics. Université Pierre et Marie Curie - Paris VI, 2015. English. ⟨NNT : 2015PA066658⟩
Thèse tel-01366691v1
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Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

Abir Ben Haj Ali , Ahlem Amouri , Marwa Sayeb , Saloua Makni , Wajih Hammami , et al.
Molecular Genetics & Genomic Medicine, 2019, 7 (7), pp.e00694. ⟨10.1002/mgg3.694⟩
Article dans une revue pasteur-03263632v1

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

Mariem Ben Rekaya , Chokri Naouali , Olfa Messaoud , Meriem Jones , Yosra Bouyacoub , et al.
Journal of Dermatological Science, 2018, 89 (2), pp.172--180. ⟨10.1016/j.jdermsci.2017.10.015⟩
Article dans une revue hal-01876284v1
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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
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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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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

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2

Juliette C Piard , Brigitte Mignot , Francine Arbez-Gindre , Didier Aubert , Yves Morel , et al.
American Journal of Medical Genetics Part A, 2014, 164 (10), pp.2618 - 2622. ⟨10.1002/ajmg.a.36662⟩
Article dans une revue istex hal-01699526v1

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

European Journal of Endocrinology Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 'DSDnet

L Audí , S F Ahmed , N Krone , M Cools , Ken Mcelreavey , et al.
European Journal of Endocrinology, 2018, ⟨10.1530/EJE-18-0256⟩
Article dans une revue pasteur-02872370v1
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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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Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( WT1 ) gene

Caroline Eozenou , Nitzan Gonen , Maria Sol Touzon , Anne Jørgensen , Svetlana A Yatsenko , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Article dans une revue pasteur-02872463v1

Identification of a missense variant in CLDN2 in obstructive azoospermia

Masomeh Askari , Razieh Karamzadeh , Naser Ansari-Pour , Mohammad Hossein Karimi-Jafari , Navid Almadani , et al.
Journal of Human Genetics, 2019, 64 (10), pp.1023-1032. ⟨10.1038/s10038-019-0642-0⟩
Article dans une revue pasteur-03263628v1
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Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development

Khouloud Rjiba , Soumaya Mougou-Zerelli , Imen Hadj Hamida , Ghada Saad , Bochra Khadija , et al.
Reproductive Biology and Endocrinology, 2023, 21 (1), pp.2. ⟨10.1186/s12958-022-01045-7⟩
Article dans une revue hal-04150358v1

Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals

Arvand Akbari , Kimiya Padidar , Najmeh Salehi , Mehri Mashayekhi , Navid Almadani , et al.
Human Reproduction, 2021, 36 (4), pp.1134-1145. ⟨10.1093/humrep/deaa362⟩
Article dans une revue pasteur-03263611v1