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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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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.
Article dans une revue
inserm-03790574v1
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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.
Article dans une revue
pasteur-03521819v1
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Pituitary stalk interruption syndrome is characterized by genetic heterogeneity
Raja Brauner
,
Joelle Bignon-Topalovic
,
Anu Bashamboo
,
Ken Mcelreavey
Article dans une revue
pasteur-03263613v1
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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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Genetics of 46,XY gonadal dysgenesis
Maëva Elzaiat
,
Ken Mcelreavey
,
Anu Bashamboo
Article dans une revue
hal-04150390v1
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DHX37 and 46, XY DSD : A new Ribosomopathy?
Kenneth Mcelreavey
,
Eric Pailhoux
,
Anu Bashamboo
Article dans une revue
hal-03763397v1
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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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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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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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FOXL2 is a Progesterone Target Gene in the Endometrium of Ruminants
Caroline Eozenou
,
Audrey Lesage-Padilla
,
Vincent Mauffré
,
Gareth Healey
,
Sylvaine Camous
,
et al.
Article dans une revue
hal-02891695v1
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A conserved NR5A1-responsive enhancer regulates SRY in testis-determination
Denis Houzelstein
,
Caroline Eozenou
,
Carlos F Lagos
,
Maëva Elzaiat
,
Joelle Bignon-Topalovic
,
et al.
Article dans une revue
hal-04583192v1
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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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In vitro cellular reprogramming to model gonad development and its disorders
Nitzan Gonen
,
Caroline Eozenou
,
Richard Mitter
,
Maëva Elzaiat
,
Isabelle Stévant
,
et al.
Article dans une revue
hal-04150365v1
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Monogenic forms of DSD: An update
Ken Mcelreavey
,
Anu Bashamboo
Article dans une revue
pasteur-03521800v1
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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
Article dans une revue
pasteur-03263606v1
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