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	Pour les 34 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Evidence for NR2F2/COUP-TFII involvement in human testis development Somboon Wankanit , Housna Zidoune , Joëlle Bignon-Topalovic , Laurène Schlick , Denis Houzelstein , et al. Scientific Reports, 2024, 14 (1), pp.17869. ⟨10.1038/s41598-024-68860-3⟩ Article dans une revue hal-04759858v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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⟩ Article dans une revue hal-02931925v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More

Filtrer vos résultats

DHX37 and 46, XY DSD : A new Ribosomopathy?

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

Dengue virus NS1 protein conveys pro‐inflammatory signals by docking onto high‐density lipoproteins

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

Genetics of 46,XY gonadal dysgenesis

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

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

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

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

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

Evidence for NR2F2/COUP-TFII involvement in human testis development

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

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

FOXL2 is a Progesterone Target Gene in the Endometrium of Ruminants

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

Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

The evolving role of whole-exome sequencing in the management of disorders of sex development

Granulosa cells provide elimination of apoptotic oocytes through unconventional autophagy-assisted phagocytosis

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

Identification of a missense variant in CLDN2 in obstructive azoospermia

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

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( WT1 ) gene

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Deciphering the molecular mechanisms of gonadal development

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome