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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.
Article dans une revue
pasteur-03521822v1
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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.
Article dans une revue
hal-04150451v1
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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.
Article dans une revue
hal-04150348v1
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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.
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.
Article dans une revue
hal-04150372v1
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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
Article dans une revue
pasteur-03521841v1
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Y-chromosome AZFc structural architecture and relationship to male fertility
Celia Ravel
,
Sandra Chantot-Bastaraud
,
Brahim El Houate
,
Hassan Rouba
,
Marie Legendre
,
et al.
Article dans une revue
inserm-04133897v1
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Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome
Anu Bashamboo
,
Joelle Bignon-Topalovic
,
Nasser Moussi
,
Ken Mcelreavey
,
Raja Brauner
Article dans une revue
pasteur-03521845v1
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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⟩
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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.
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.
Article dans une revue
hal-04150358v1
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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.
Article dans une revue
pasteur-03263611v1
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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.
Article dans une revue
pasteur-02376177v1
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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
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hal-02669393v1
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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
Article dans une revue
hal-02264970v1
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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.
Article dans une revue
pasteur-01061190v1
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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
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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.
Article dans une revue
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
Article dans une revue
pasteur-03521835v1
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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.
Article dans une revue
hal-01592713v1
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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.
Article dans une revue
pasteur-03521814v1
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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.
Article dans une revue
hal-01876288v1
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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
Article dans une revue
pasteur-03521843v1
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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.
Article dans une revue
hal-04150382v1
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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⟩
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pasteur-02872465v1
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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.
Article dans une revue
pasteur-03264066v1
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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.
Article dans une revue
pasteur-02872370v1
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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.
Article dans une revue
pasteur-01060192v1
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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.
Article dans une revue
pasteur-00169326v1
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Genetics of 46,XY gonadal dysgenesis
Maëva Elzaiat
,
Ken Mcelreavey
,
Anu Bashamboo
Article dans une revue
hal-04150390v1
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