Laurence Faivre - Dissemin

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Papers authored by Laurence Faivre

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2021 F. Koraichi, F. Ader, E. Donal, C. Bordet, P. De Groote, A. Moerman, L. Faivre

ORCID

, D. Babuty, P. Réant, A. Palmyre, K. Nguyen, C. Thambo, B. Isidor, A. Toutain, A. Brehin and 4 other authors

The impact of the Next Generation Sequencing strategy in the diagnosis of two rare causes of hypertrophic cardiomyopathy: Fabry disease and hereditary transthyretin amyloidosis (ATTR)

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Alexander Jm M. Dingemans, Kim Mg G. Truijen, Jung-Hyun Kim, Zahide Alaçam, Laurence Faivre

ORCID

, Kathleen M. Collins, Mathilde Nizon, James Pauling, Erica H. Gerkes, Edyta Heropolitańska-Pliszka, Astrid S. Plomp, Mieke van Haelst, Caroline Racine, Ingrid Mbh B. H. van de Laar, Rani Sachdev and 10 other authors

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

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N. Bourgon, Carmignac, A. Sorlin, Y. Duffour, C. Philippe

ORCID

, C. Thauvin, L. Guibaud, L. Faivre

ORCID

, P. Vabres, P. Kuentz

OC18. 04: Clinical and molecular data in case of prenatal localised overgrowth disorders: major implication of variants in the PI3K-AKT-mTOR signalling pathway

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Marion Lesieur-Sebellin

ORCID

, Yline Capri, Margot Grisval, Thomas Courtin

ORCID

, Augustine Burtz, Julien Thevenon, Julien Buratti

ORCID

, Elodie Lejeune, Laurence Faivre

ORCID

, Boris Keren

Phenotype associated with TAF2 biallelic mutations: a clinical description of four individuals and review of the literature

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Pauline Le Tanno, Mathilde Folacci, Jean Revilloud, Laurence Faivre

ORCID

, Gabriel Laurent, Lucile Pinson, Pascal Amedro, Gilles Millat, Alexandre Janin, Nathalie Roux-Buisson, Michel Vivaudou, Julien Fauré

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.

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Conny M. A. van Ravenswaaij‐Arts, Jonathan Lévy

ORCID

, Alain Verloes

ORCID

, Anne‐Claude Tabet

ORCID

, Bérénice Schell, Hala Nasser, Myriam Rachid, Lyse Ruaud

ORCID

, Nathalie Couque

ORCID

, Patrick Callier, Morgane Plutino, Houda Karmous‐Benailly, Laurence Faivre

ORCID

, Caroline Benech, Sylvia Redon and 9 other authors

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

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2020 Arnaud Lafon, Laurence Faivre

ORCID

, Dominique Seux, Elodie Gautier, Laurence Duplomb

ORCID

, Brigitte Grogogeat, Anahide Marcelet, Laurent Laforest

ORCID

Periodontal disorders in a cohort of patients with Cohen syndrome

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Anaı̈s Begemann, Heinrich Sticht, Antonio Vitobello, Laurence Faivre

ORCID

, Dave A. Dyment, Hartmut Engels, John Henry McDermott, Rachel Fisher, Katrin Õunap, Kirsty McWalter, Amber Begtrup, Pierre Meyer, Elaine S. Goh, Bernt Popp, Siddharth Banka and 36 other authors

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

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Mathilde Lefebvre

ORCID

, Ange-Line Bruel, Emilie Tisserant, Mirna Assoum, Nicolas Bourgon, Maria Cristina Antal

ORCID

, Valérie Kremer, Yannis Duffourd, Françoise Girard-Lemaitre, Jean-Louis Mandel, Daphne Lehalle, Sophie Collardeau-Frachon, Sophie Nambot, Nolwenn Jean-Marçais, Nada Houcinat and 41 other authors

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

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Michele Bertacchi

ORCID

, Anna Lisa Romano, Agnès Loubat, Frederic Tran Mau‐Them

ORCID

, Marjolaine Willems, Laurence Faivre

ORCID

, Philippe Khau van Kien, Paul Kuentz

ORCID

, Laurence Perrin, Françoise Devillard, Christophe Philippe, Aurore Garde

ORCID

, Arthur Sorlin, Francesco Neri, Rossella Di Giaimo

ORCID

and 5 other authors

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

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This paper was not found in any repository, but could be made available legally by the author.

This paper was not found in any repository, but could be made available legally by the author.

Daphné Lehalle

ORCID

, Pierre Vabres, Arthur Sorlin, Tatjana Bierhals, Magali Avila, Virginie Carmignac, Jill Clayton-Smith, Martin Chevarin, Benjamin Cogné

ORCID

ORCID

, Erin Torti, Laurence Duplomb

ORCID

, Eveline De Bont, Yuichi Abe, Yannis Duffourd and 36 other authors

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

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Emmanuelle Ranza

ORCID

, Corinne Vigouroux, Anne Guimier, Alain Verloes

ORCID

, Yline Capri, Charles Marques, Martine Auclair, Michèle Mathieu-Dramard, Gilles Morin, Christel Thauvin-Robinet, Julien Thevenon, A. Micheil Innes, Laurence Faivre

ORCID

, David A. Dyment

ORCID

, Jeanne Amiel

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants

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Julien Van-Gils, Frédéric Tran Mau-Them

ORCID

, Antonio Vitobello, Rebecca A. Barnard, Martin Chevarin, Patrick Callier

ORCID

, Judith St-Onge, Thibaud Jouan, Yannis Duffourd, Didier Lacombe, Marie Ange Delrue, Cyril Goizet, Fanny Morice-Picard, Arnold Munnich, Stanislas Lyonnet and 60 other authors

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

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C. du Souich, C. van Karnebeek, Sophie Nambot, Laurence Faivre

ORCID

, Ghayda Mirzaa, Cyril Mignot, Florence Petit, Massimiliano Rossi, Julien Thevenon, Julia Metreau, Valérie Layet, Ange-Line Bruel, Daniel Amram, Odile Boute-Bénéjean, Elizabeth Bhoj and 56 other authors

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

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This paper is made freely available by the publisher.

Kévin Uguen

ORCID

, Claire Jubin, Yannis Duffourd, Claire Bardel, Jean‐Michel Dupont, Valérie Malan, Pierre‐Antoine Rollat‐Farnier, Céline Baulard, Laila El Khattabi, Marc Lelorch, Antonio Vitobello, Aurélie Leduc, Nicolas Chatron

ORCID

, Emilie Tisserant, Frédéric Tran Mau‐Them

ORCID

and 16 other authors

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

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Mélanie Eyries, Florent Soubrier

ORCID

, David Montani

ORCID

, Barbara Girerd, Nicolas Favrolt, Marianne Riou, Laurence Faivre

ORCID

, Grégoire Manaud, Frédéric Perros, Stefan Gräf

ORCID

ORCID

, Nicholas W. Morrell

Familial pulmonary arterial hypertension by KDR heterozygous loss of function

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Geoffroy Delplancq

ORCID

, Georges Tarris, Antonio Vitobello, Sophie Nambot, Arthur Sorlin, Christophe Philippe, Virginie Carmignac, Yannis Duffourd, Martin Chevarin, Charlotte Denis, Gilles Millat, Jean Christophe Eicher, Bouchra Khallouk, Thierry Rousseau, Sylvie Falcon‐Eicher and 5 other authors

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

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Mirna Assoum, Ange‐Line Bruel, Melissa L. Crenshaw, Julian Delanne, Ingrid M. Wentzensen, Kirsty McWalter, Karin M. Dent, Antonio Vitobello, Paul Kuentz

ORCID

, Julien Thevenon, Yannis Duffourd, Christel Thauvin‐Robinet, Laurence Faivre

ORCID

Novel KIAA1033 / WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

A. Begemann, H. Sticht, K. McWalter, A. Vitobello, L. Faivre

ORCID

, B. Alhaddad, S. Banka, J. Becker, T. Bierhals, K. Brown

Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics

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