Bruno Francou

7PUBLICATIONS
16CO-AUTHORS
Predictive and prognostic markersSolid mechanicsGene expression (incl. microarray and other genome-wide approaches)Cell physiologyToxicology (incl. clinical toxicology)
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Publications (7)

|Feb 16, 2023
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.

Patrick Hanna, Ashok Khatri, Shawn Choi

|Nov 02, 2022
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.

Marie-Noëlle Méaux, Jérôme Harambat, Anya Rothenbuhler

|Dec 06, 2021
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.

Kenneth Chappell, Bruno Francou, Christophe Habib

|Mar 07, 2021
A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2.

Patrick Hanna, Bruno Francou, Brigitte Delemer

|Dec 03, 2020
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.

Arrate Pereda, Francesca M Elli, Suzanne Thiele

|Jun 06, 2020
When to suspect transthyretin amyloidosis in cases of isolated vitreous opacities?

Barthélémy Poignet, Cécile Cauquil, Emmanuel Barreau

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Frequent Collaborators

3 joint publications

Agnès Linglart

1 joint publications

Alessia Peretti

1 joint publications

Guilhem Solé

1 joint publications

Barthélémy Poignet