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Bruno Francou
Bruno Francou
Université Paris-Saclay
Endocrinology
Internal medicine
Biology
Mutation
Medicine
5
Papers
66
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A novel familial PHP1B variant with incomplete loss-of-methylation at GNAS-A/B and enhanced methylation at GNAS-AS2.
2021
The Journal of Clinical Endocrinology and Metabolism
Patrick Hanna
Bruno Francou
Brigitte Delemer
Harald Jüppner
Agnès Linglart
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New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family
2017
Fertility and Sterility
Nouha Bouali
Bruno Francou
Jérôme Bouligand
Dilek Imanci
Sarra Dimassi
Lucie Tosca
Monia Zaouali
Soumaya Mougou
Jacques Young
Ali Saad
Anne Guiochon-Mantel
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Citations (31)
Découverte par exome ciblé d’une nouvelle mutation homozygote de MCM8 chez des femmes avec insuffisance ovarienne prématurée membres d’une famille consanguine. Caractérisation fonctionnelle
2017
Annales D Endocrinologie
Nouha Bouali
Bruno Francou
Jérôme Bouligand
D. Imanci
S. Dimessi
Lucie Tosca
Monia Zaouali
Soumaya Mougou
Jacques Young
Ali Saad
Anne Guiochon-Mantel
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Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation
2016
The Journal of Clinical Endocrinology and Metabolism
Valérie Bernard
Sakina Kherra
Bruno Francou
Jérôme Fagart
Say Viengchareun
Jérôme Guéchot
Asmahane Ladjouze
Anne Guiochon-Mantel
Kenneth S. Korach
Nadine Binart
Marc Lombès
Sophie Christin-Maitre
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Citations (28)
Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failure
2015
Annales D Endocrinologie
Nouha Bouali
Dorra Hmida
Soumaya Mougou
Jérôme Bouligand
Besma Lakhal
Sarra Dimessi
Bruno Francou
G. Saad
Saoussen Trabelsi
Monia Zaouali
Moez Gribaa
Molka Chaieb
Mouhamed Bibi
Anne Guiochon-Mantel
Ali Saad
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Citations (6)
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