B. Durand
Claude Bernard University Lyon 1
6 Papers
2 Citations
B. Durand is an academic researcher from Claude Bernard University Lyon 1. The author has contributed to research in topics: Medicine & Autism. The author has an hindex of 2, co-authored 2 publications.
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Papers
Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.
Yohann Jourdy,C. Nougier,O. Roualdes,Mathilde Fretigny,B. Durand,Claude Negrier,Christine Vinciguerra +6 more
TL;DR: Haemophilia A is a bleeding disorder due to an absence or a reduced activity of coagulation factor VIII (FVIII) caused by mutations in F8 gene, which represents approximately 45% of the reported molecular defects in HA.
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GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders
Pauline Burger,Florent Colin,Axelle Strehle,Timothée Mazzucotelli,Nicole Collot,Romain Coutelle,B. Durand,A. C. Bouman,Daphna Landau Prat,Tjitske Kleefstra,Pierre Parrend,Amélie Piton,David A. Koolen,Jean-Louis Mandel +13 more
TL;DR: GenIDA as mentioned in this paper is an online participatory database that aims to better characterise the clinical manifestations and natural histories of these rare diseases, which often remain insufficiently described in terms of clinical spectrum, associated medical problems, etc., due to their rarity and the often limited number of patients' phenotypes reported.
Déficit combiné en facteurs V et VIII de la coagulation : ou quand la génétique nous explique les déficits combinés de facteurs de la coagulation
TL;DR: In this article, a description de familles atteintes de ce deficit combine en facteurs V et VIII (F5F8D) de la coagulation is given.
2
Growth charts in DYRK1A syndrome.
Pierre-Louis Lanvin,Thomas Goronflot,Bertrand Isidor,Mathilde Nizon,B. Durand,Salima El Chehadeh,David Geneviève,Valentin Ruault,Mélanie Fradin,Laurent Pasquier,Julien Thevenon,Bruno Delobel,Lydie Burglen,Alexandra Afenjar,Laurence Faivre,Christine Francannet,Anne-Marie Guerrot,Alice Goldenberg,Sandra Mercier,Delphine Héron,Daphné Lehalle,Cyril Mignot,Isabelle Marey,Perrine Charles,Sébastien Moutton,Stéphane Bézieau,Allan Bayat,Amélie Piton,Marjolaine Willems,Marie Vincent +29 more
TL;DR: Growth charts for widespread use in the management of patients with DYRK1A syndrome show that individuals are more likely to present intrauterine growth restriction with low birth weight and microcephaly, then characterized by severe microcephaly, low weight, and short stature.
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Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders
Valentin Ruault,Pauline Burger,Johanna Gradels‐Hauguel,Nathalie Ruiz,Rami Abou Jamra,Alexandra Afenjar,Yves Alembik,J-L Alessandri,Stéphanie Arpin,Giulia Barcia,Šárka Bendová,Ange-Line Bruel,Perrine Charles,Nicolas Chatron,Maya Chopra,Solène Conrad,V. C. Daire,Auriane Cospain,Christine Coubes,Juliette Coursimault,Andrée Delahaye-Duriez,Martine Doco,William Dufour,B. Durand,Camille Engel,Laurence Faivre,Fanny Ferroul,Mélanie Fradin,Hélène Frenkiel,Carlo Fusco,Livia Garavelli,Aurore Garde,B. Gérard,David Germanaud,Louise Goujon,Aurélie Gouronc,Emmanuelle Ginglinger,Alice Goldenberg,Miroslava Hancarova,Marketa Havlovicova,Delphine Héron,Bertrand Isidor,Nolwenn Jean Marçais,Boris Keren,Margarete Koch-Hogrebe,Paul Kuentz,Victoria Lamure,Anne-Sophie Lebre,François Lecoquierre,Natacha Lehman,Gaetan Lesca,Stanislas Lyonnet,Delphine Martin,Cyril Mignot,Teresa M. Neuhann,Gaël Nicolas,Mathilde Nizon,Florence Petit,Christophe Philippe,Amélie Piton,Marzia Pollazzon,Darina Prchalova,Audrey Putoux,Marlène Rio,Sophie Rondeau,Massimiliano Rossi,Quentin Sabbagh,Pascale Saugier-Veber,Ariane Schmetz,Julie Steffann,Christel Thauvin-Robinet,Annick Toutain,F. T. M. Them,Gabriele Trimarchi,Marie-Claire Vincent,Marketa Vlckova,Dagmar Wieczorek,Marjolaine Willems,Kevin Yauy,Michaela Zelinová,Alban Ziegler,Boris Chaumette,Bekim Sadikovic,Jean-Louis Mandel,David Geneviève +84 more
TL;DR: It is strongly suggested that attention‐deficit/hyperactivity disorder, anxiety, and sleep disorders need to be treated in individuals with DDX3X variants.