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Paternal Age Over 40 Years: The “Amber Light” in the Reproductive Life of Men?
Elise de La Rochebrochard
,
Ken Mcelreavey
,
Patrick Thonneau
Journal articles
hal-02264970v1
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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.
Journal articles
hal-04150358v1
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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⟩
Journal articles
pasteur-02872463v1
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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 articles
pasteur-03263628v1
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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.
Journal articles
pasteur-02376177v1
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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.
Journal articles
pasteur-03263611v1
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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.
Journal articles
pasteur-03264066v1
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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
Journal articles
pasteur-03521843v1
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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.
Journal articles
pasteur-01060192v1
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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.
Journal articles
pasteur-02872370v1
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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
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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.
Journal articles
hal-04150382v1
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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.
Journal articles
hal-01876288v1
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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 articles
hal-01592713v1
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Specific aspects of consanguinity: some examples from the tunisian population.
Lilia Romdhane
,
Nizar Ben Halim
,
Insaf Rejeb
,
Rym Kefi
,
Yosra Bouyacoub
,
et al.
Journal articles
pasteur-01061190v1
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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.
Journal articles
pasteur-03521814v1
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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.
Journal articles
pasteur-03521830v1
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Identification of a homozygous GFPT2 variant in a family with asthenozoospermia
Masomeh Askari
,
Dor Mohammad Kordi-Tamandani
,
Navid Almadani
,
Ken Mcelreavey
,
Mehdi Totonchi
Journal articles
pasteur-03521835v1
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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.
Journal articles
pasteur-00169326v1
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Genetics of 46,XY gonadal dysgenesis
Maëva Elzaiat
,
Ken Mcelreavey
,
Anu Bashamboo
Journal articles
hal-04150390v1
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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.
Journal articles
pasteur-03521812v1
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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.
Journal articles
pasteur-03521891v1
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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.
Journal articles
hal-03488020v1
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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.
Journal articles
hal-01534741v1
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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.
Journal articles
hal-04150365v1
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Monogenic forms of DSD: An update
Ken Mcelreavey
,
Anu Bashamboo
Journal articles
pasteur-03521800v1
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Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings
Evgenia Globa
,
Nataliya Zelinska
,
Nina Siryk
,
Anu Bashamboo
,
Ken Mcelreavey
Journal articles
pasteur-03521824v1
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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
Journal articles
pasteur-03521848v1
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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 articles
hal-01876284v1
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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
Journal articles
pasteur-03263606v1
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