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	Pour les 55 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

		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 Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn More
		A Homozygous Missense Mutation in *FANCA* Gene in a 46,XY Female with Gonadal Dysgenesis Inas Mazen , Ken Mcelreavey , Maha Eid , Anu Bashamboo , Ghada Kamah Sexual Development, 2018, ⟨10.1159/000491407⟩ Article dans une revue pasteur-03521841v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Y-chromosome AZFc structural architecture and relationship to male fertility Celia Ravel , Sandra Chantot-Bastaraud , Brahim El Houate , Hassan Rouba , Marie Legendre , et al. Fertility and Sterility, 2009, 92 (6), pp.1924-1933. ⟨10.1016/j.fertnstert.2008.08.135⟩ Article dans une revue inserm-04133897v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn More
		Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome Anu Bashamboo , Joelle Bignon-Topalovic , Nasser Moussi , Ken Mcelreavey , Raja Brauner Journal of Clinical Endocrinology and Metabolism, 2017, 102 (7), pp.2401-2406. ⟨10.1210/jc.2016-1095⟩ Article dans une revue pasteur-03521845v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn More
		Génétique et infertilité humaine : "une approche gènes candidats Béatrice Mandon-Pepin , C. Derbois , F. Matsuda , Corinne Cotinot , D.J. Wolgemuth , et al. Reproduction Humaine et Hormones, 2002, 15 (6), pp.390-394 Article dans une revue hal-02669393v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Paternal Age Over 40 Years: The “Amber Light” in the Reproductive Life of Men? Elise de La Rochebrochard , Ken Mcelreavey , Patrick Thonneau Journal of Andrology, 2003, 24 (4), pp.459-465. ⟨10.1002/j.1939-4640.2003.tb02694.x⟩ Article dans une revue hal-02264970v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing Rita Bertalan , Osnat Admoni , Anu Bashamboo , Yardena Tenenbaum-Rakover , Ken Mcelreavey Clinical Endocrinology, 2017, 87 (4), pp.407-408. ⟨10.1111/cen.13396⟩ Article dans une revue pasteur-03521843v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn More
		ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling Abigail Harris , Pam Siggers , Silvia Corrochano , Nick Warr , Danielle Sagar , et al. Proceedings of the National Academy of Sciences of the United States of America, 2018, 115 (21), pp.5474-5479. ⟨10.1073/pnas.1801223115⟩ Article dans une revue pasteur-02872465v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn More
		Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness. Zied Riahi , Crystel Bonnet , Rim Zainine , Malek Louha , Yosra Bouyacoub , et al. PLoS ONE, 2014, 9 (6), pp.e99797. ⟨10.1371/journal.pone.0099797⟩ Article dans une revue pasteur-01060192v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn More
		Specific aspects of consanguinity: some examples from the tunisian population. Lilia Romdhane , Nizar Ben Halim , Insaf Rejeb , Rym Kefi , Yosra Bouyacoub , et al. Human Heredity, 2014, 77 (1-4), pp.167-74. ⟨10.1159/000362167⟩ Article dans une revue pasteur-01061190v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		La determination du sexe dans l'espece humaine F. Richaud , Ken Mcelreavey , E. Vilain , N. Abbas , Corinne Cotinot , et al. Annales de l'Institut Pasteur/Actualités, 1992, 3 (2), pp.83-90 Article dans une revue hal-02709822v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A missense mutation in NR5A1 causing female to male sex reversal: A case report Masomeh Askari , Mandana Rastari , Mehrshad Seresht‐ahmadi , Ken Mcelreavey , Anu Bashamboo , et al. Andrologia, 2020, 52 (6), pp.e13585. ⟨10.1111/and.13585⟩ Article dans une revue pasteur-03521830v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of a homozygous GFPT2 variant in a family with asthenozoospermia Masomeh Askari , Dor Mohammad Kordi-Tamandani , Navid Almadani , Ken Mcelreavey , Mehdi Totonchi Gene, 2019, 699, pp.16-23. ⟨10.1016/j.gene.2019.02.060⟩ Article dans une revue pasteur-03521835v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn More
		Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility N Machev , N Saut , G Longepied , P Terriou , A Navarro , et al. Journal of Medical Genetics, 2004, 41 (11), pp.814-825. ⟨10.1136/jmg.2004.022111⟩ Article dans une revue hal-01592713v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn 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 Gmail Facebook X LinkedIn More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

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

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

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

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

A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis

Y-chromosome AZFc structural architecture and relationship to male fertility

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

Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome

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

Identification of a missense variant in CLDN2 in obstructive azoospermia

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

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

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

Génétique et infertilité humaine : "une approche gènes candidats

Paternal Age Over 40 Years: The “Amber Light” in the Reproductive Life of Men?

A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing

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

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

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

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

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

Specific aspects of consanguinity: some examples from the tunisian population.

La determination du sexe dans l'espece humaine

A missense mutation in NR5A1 causing female to male sex reversal: A case report

Identification of a homozygous GFPT2 variant in a family with asthenozoospermia

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

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

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility

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

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