Search - Institut Pasteur Access content directly

Filter your results

51 Results
authIdHal_s : ken-mcelreavey
Image document

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⟩
Journal articles hal-02264970v1
Image document

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⟩
Journal articles hal-04150358v1
Image document

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⟩
Journal articles 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⟩
Journal articles pasteur-03263628v1
Image document

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⟩
Journal articles pasteur-02376177v1

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⟩
Journal articles pasteur-03263611v1

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⟩
Journal articles pasteur-03264066v1

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⟩
Journal articles pasteur-03521843v1
Image document

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⟩
Journal articles pasteur-01060192v1

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⟩
Journal articles pasteur-02872370v1
Image document

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⟩
Journal articles pasteur-02872465v1
Image document

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⟩
Journal articles hal-04150382v1

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⟩
Journal articles hal-01876288v1

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⟩
Journal articles hal-01592713v1

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⟩
Journal articles pasteur-01061190v1

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⟩
Journal articles pasteur-03521814v1

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⟩
Journal articles pasteur-03521830v1

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⟩
Journal articles pasteur-03521835v1
Image document

Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.

Etienne Patin , Luis B Barreiro , Pardis C Sabeti , Frédéric Austerlitz , Francesca Luca , et al.
American Journal of Human Genetics, 2006, 78 (3), pp.423-36. ⟨10.1086/500614⟩
Journal articles pasteur-00169326v1

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⟩
Journal articles hal-04150390v1
Image document

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism

Rahma Mkaouar , Lamia Cherif Ben Abdallah , Chokri Naouali , Saida Lahbib , Zinet Turki , et al.
Frontiers in Genetics, 2021, 12, pp.665174. ⟨10.3389/fgene.2021.665174⟩
Journal articles pasteur-03521812v1

A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD

Yassine Naasse , Amina Bakhchane , Hicham Charoute , Farida Jennane , Joelle Bignon-Topalovic , et al.
Sexual Development, 2017, 11 (5-6), pp.269-274. ⟨10.1159/000485393⟩
Journal articles pasteur-03521891v1
Image document

Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion

Nicolas Mottet , Christelle Cabrol , Jean-Patrick Metz , Claire Toubin , Francine Arbez-Gindre , et al.
European Journal of Medical Genetics, 2019, 62 (9), pp.103539. ⟨10.1016/j.ejmg.2018.09.006⟩
Journal articles hal-03488020v1
Image document

Identification of a novel mutation of LAMB3 gene in a lybian patient with hereditary epidermolysis bullosa by whole exome sequencing

N. Laroussi , O. Messaoud , M. Chargui , C.B. Fayala , A. Elahlafi , et al.
Annals of Dermatology, 2017, 29 (2), pp.243-246. ⟨10.5021/ad.2017.29.2.243⟩
Journal articles hal-01534741v1
Image document

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⟩
Journal articles hal-04150365v1
Image document

Monogenic forms of DSD: An update

Ken Mcelreavey , Anu Bashamboo
Hormone Research in Paediatrics, 2021, ⟨10.1159/000521381⟩
Journal articles pasteur-03521800v1

Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings

Evgenia Globa , Nataliya Zelinska , Nina Siryk , Anu Bashamboo , Ken Mcelreavey
Sexual Development, 2021, 14 (1-6), pp.27-32. ⟨10.1159/000512844⟩
Journal articles pasteur-03521824v1

Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia

Inas Mazen , Ken Mcelreavey , Aya Elaidy , Alaa Kamel , Mohamed Abdel-Hamid
Sexual Development, 2017, 11 (5-6), pp.275-279. ⟨10.1159/000485278⟩
Journal articles pasteur-03521848v1

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⟩
Journal articles hal-01876284v1
Image document

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⟩
Journal articles pasteur-03263606v1