Bruno Francou

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 13

Top Topics

High Throughput Sequencing

Top Venues

Proceedings of the National Academy of Sciences of the United States of America

The Journal of clinical endocrinology and metabolism

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

European journal of endocrinology

This page only lists publications with an associated author ORCID identifier.

Publications

Patrick Hanna, Ashok Khatri, Shawn Choi, Séverine Brabant, Matti L Gild, Marie L Piketty, Bruno Francou, Dominique Prié, John T Potts, Roderick J Clifton-Bligh, Agnès Linglart, Thomas J Gardella, Harald Jüppner
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone. Proceedings of the National Academy of Sciences of the United States of America 120 (8) (2023)
Patrick Hanna, Ashok Khatri, Shawn Choi, Séverine Brabant, Matti L Gild, Marie L Piketty, Bruno Francou, Dominique Prié, John T Potts, Roderick J Clifton-Bligh, Agnès Linglart, Thomas J Gardella, Harald Jüppner
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone. Proceedings of the National Academy of Sciences of the United States of America 120 (8) (2023)
Patrick Hanna, Ashok Khatri, Shawn Choi, Séverine Brabant, Matti L Gild, Marie L Piketty, Bruno Francou, Dominique Prié, John T Potts, Roderick J Clifton-Bligh, Agnès Linglart, Thomas J Gardella, Harald Jüppner
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone. Proceedings of the National Academy of Sciences of the United States of America 120 (8) (2023)
Patrick Hanna, Ashok Khatri, Shawn Choi, Séverine Brabant, Matti L Gild, Marie L Piketty, Bruno Francou, Dominique Prié, John T Potts, Roderick J Clifton-Bligh, Agnès Linglart, Thomas J Gardella, Harald Jüppner
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone. Proceedings of the National Academy of Sciences of the United States of America 120 (8) (2023)
Patrick Hanna, Ashok Khatri, Shawn Choi, Séverine Brabant, Matti L Gild, Marie L Piketty, Bruno Francou, Dominique Prié, John T Potts, Roderick J Clifton-Bligh, Agnès Linglart, Thomas J Gardella, Harald Jüppner
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone. Proceedings of the National Academy of Sciences of the United States of America 120 (8) (2023)
Patrick Hanna, Ashok Khatri, Shawn Choi, Séverine Brabant, Matti L Gild, Marie L Piketty, Bruno Francou, Dominique Prié, John T Potts, Roderick J Clifton-Bligh, Agnès Linglart, Thomas J Gardella, Harald Jüppner
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone. Proceedings of the National Academy of Sciences of the United States of America 120 (8) (2023)
Patrick Hanna, Ashok Khatri, Shawn Choi, Séverine Brabant, Matti L Gild, Marie L Piketty, Bruno Francou, Dominique Prié, John T Potts, Roderick J Clifton-Bligh, Agnès Linglart, Thomas J Gardella, Harald Jüppner
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone. Proceedings of the National Academy of Sciences of the United States of America 120 (8) (2023)
Marie-Noëlle Méaux, Jérôme Harambat, Anya Rothenbuhler, Juliane Léger, Peter Kamenicky, Sylvie Soskin, Olivia Boyer, Emese Boros, Pascal D'Anella, Brigitte Mignot, Maite Gebhart, Philippe Vic, Nicolas Richard, Béatrice Thivichon-Prince, Bruno Francou, Agnès Linglart, Justine Bacchetta, Arnaud Molin
Genotype-phenotype description of Vitamin-D Dependent Rickets 1A: CYP27B1 p.(Ala129Thr) variant induces a milder disease. The Journal of clinical endocrinology and metabolism (2022)
Arrate Pereda, Francesca M Elli, Suzanne Thiele, Luisa de Sanctis, Anya Rothenbuhler, Patrick Hanna, Bruno Francou, Diana Alexandra Ertl, Guiomar Perez de Nanclares, Agnès Linglart, Giovanna Mantovani
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients. European journal of endocrinology 184 (2) (2021)
Patrick Hanna, Bruno Francou, Brigitte Delemer, Harald Jüppner, Agnès Linglart
A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2. The Journal of clinical endocrinology and metabolism 106 (9) (2021)
Kenneth Chappell, Bruno Francou, Christophe Habib, Thomas Huby, Marco Leoni, Aurélien Cottin, Florian Nadal, Eric Adnet, Eric Paoli, Christophe Oliveira, Céline Verstuyft, Anne Davit-Spraul, Pauline Gaignard, Elise Lebigot, Jean-Charles Duclos-Vallee, Jacques Young, Peter Kamenicky, David Adams, Andoni Echaniz-Laguna, Emmanuel Gonzales, Claire Bouvattier, Agnes Linglart, Véronique Picard, Emilie Bergoin, Emmanuel Jacquemin, Anne Guiochon-Mantel, Alexis Proust, Jérôme Bouligand
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. Clinical chemistry (2021)
Barthelemy Poignet, Cécile Cauquil, Emmanuel Barreau, Bahram Bodaghi, Céline Terrada, David Adams, Bruno Francou, Marc Labetoulle, Antoine Rousseau
When to suspect transthyretin amyloidosis in cases of isolated vitreous opacities? Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 27 (4) (2020)
Alessia Peretti, Maud Perie, Didier Vincent, Françoise Bouhour, Klaus Dieterich, Martial Mallaret, Fanny Duval, Cyril Goizet, Raul Juntas-Morales, Laurent Magy, Guilhem Sole, Sylvain Nollet, Adeline Not, Sarah Léonard-Louis, Bruno Francou, Eric Leguern, Anne-Sophie Lia, Corinne Magdelaine, Philippe Latour, Tanya Stojkovic
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2. European journal of human genetics : EJHG 27 (9) (2019)