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Bruno Francou

Observed names: B. Francou, Francou, Bruno
Observed institutions: Université Paris-Sud, Centre National de la Recherche Scientifique, Inserm, Université Côte d'Azur, Charles University, Université Paris-Saclay, University of Medicine and Pharmacy of Craiova, Centre Hospitalier Universitaire de Nice, Assistance Publique – Hôpitaux de Paris, University Hospital in Motol, Hôpital l'Archet, Institut de Recherche sur le Cancer et le Vieillissement de Nice, Bicêtre Hospital, Physiologie et Physiopathlogie Endocriniennes, Hôpitaux universitaires Paris Sud, Ludwig-Maximilians-Universität München, Polish Academy of Sciences
ORCID: 0000-0002-3903-2320
Observed ORCID: 0000-0002-3903-2320
OpenAlex ID: A5073718259
TAC3andTACR3Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans
2010 · Jacques Young, Jérôme Bouligand, et al. · The Journal of Clinical Endocrinology & Metabolism · 252
Kisspeptin Restores Pulsatile LH Secretion in Patients with Neurokinin B Signaling Deficiencies: Physiological, Pathophysiological and Therapeutic Implications
2012 · Jacques Young, Jyothis T. George, et al. · Neuroendocrinology · 158
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GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing
2018 · Luigi Maione, Andrew A Dwyer, et al. · European Journal of Endocrinology · 155
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development
2012 · Jacques Young, Corinne Metay, et al. · Human Reproduction · 145
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships
2010 · Frédéric Brioude, Jérôme Bouligand, et al. · European Journal of Endocrinology · 114
Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations
2011 · Bruno Francou, Jérôme Bouligand, et al. · PLoS ONE · 109
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New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family
2017 · Nouha Bouali, Bruno Francou, et al. · Fertility and Sterility · 70
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Hyperparathyroidism in Patients With X-Linked Hypophosphatemia
2020 · Anne-Lise Lecoq, Philippe Chaumet-Riffaud, et al. · Journal of Bone and Mineral Research · 63
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PFMG2025–integrating genomic medicine into the national healthcare system in France
2025 · Caroline Abadie, Aldja Abderrahmane, et al. · The Lancet Regional Health - Europe · 61
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Prevalence ofKISS1 Receptormutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study
2016 · Bruno Francou, Charlotte Paul, et al. · Human Reproduction · 60
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity
2018 · Patrick Hanna, Virginie Grybek, et al. · Journal of Bone and Mineral Research · 58
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Familial Multiplicity of Estrogen Insensitivity Associated with a Loss-of-Function ESR1 Mutation
2016 · Valérie Bernard, Sakina Kherra, et al. · The Journal of Clinical Endocrinology & Metabolism · 57
Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and Molecular Characterization of a Novel Mutation
2013 · Frédéric Brioude, Jérôme Bouligand, et al. · PLoS ONE · 48
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Charcot–Marie–Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study
2021 · Fabien Hauw, Guillaume Fargeot, et al. · European Journal of Neurology · 46
Congenital hypogonadotropic hypogonadism in females: Clinical spectrum, evaluation and genetics
2010 · H. Bry-Gauillard, S. Trabado, et al. · Annales d Endocrinologie · 43
NR5A1(SF-1) Mutations Are Not a Major Cause of Primary Ovarian Insufficiency
2013 · Adela Voican, Anne Bachelot, et al. · The Journal of Clinical Endocrinology & Metabolism · 36
The genetic landscape of axonal neuropathies in the middle-aged and elderly
2020 · Jan Senderek, Petra Lassuthova, et al. · Neurology · 33
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Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers
2023 · Diane Beauvais, Céline Labeyrie, et al. · Journal of Neurology Neurosurgery & Psychiatry · 30
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NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency
2016 · N. Bouali, B. Francou, et al. · Clinical Genetics · 24
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory
2021 · Kenneth Chappell, Bruno Francou, et al. · Clinical Chemistry · 23
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Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients
2020 · Arrate Pereda, Francesca M Elli, et al. · European Journal of Endocrinology · 22
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Rapid and reliable diagnosis of Wilson disease using X‐ray fluorescence
2016 · Slávka Kaščáková, Cameron M. Kewish, et al. · The Journal of Pathology Clinical Research · 21
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Primary mitochondrial disorders and mimics: Insights from a large French cohort
2024 · Cécile Rouzier, Emmanuelle Pion, et al. · Annals of Clinical and Translational Neurology · 18
A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing
2022 · Thibaut Benquey, Emmanuelle Pion, et al. · Genes · 18
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Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused byGNRHRmutations and women with polycystic ovary syndrome
2018 · Luigi Maione, Anne Fèvre, et al. · Human Reproduction · 18
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Works count: 81
Citation count: 1,845
H-index: 21
I10-index: 33
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