Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series

Autor Vincent, Marie, Benbrik, Nadir, Romefort, Bénédicte, Colombel, Agnès, Bézieau, Stéphane, Isidor, Bertrand
Vydáno v J Med Case Rep (2017)

Population genetic screening: current issues in a European country

Autor Pasquier, Laurent, Isidor, Bertrand, Rial-Sebbag, Emmanuelle, Odent, Sylvie, Minguet, Guy, Moutel, Grégoire
Vydáno v Eur J Hum Genet (2019)

Expanding the Spectrum of PMM2-CDG Phenotype

Autor Vuillaumier-Barrot, Sandrine, Isidor, Bertrand, Dupré, Thierry, Le Bizec, Christiane, David, Albert, Seta, Nathalie
Vydáno 2011

Ribosomopathies: New Therapeutic Perspectives

Autor Orgebin, Emilien, Lamoureux, François, Isidor, Bertrand, Charrier, Céline, Ory, Benjamin, Lézot, Frédéric, Baud’huin, Marc
Vydáno v Cells (2020)

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability

Autor Lovrecic, Luca, Gnan, Chiara, Baldan, Federica, Franzoni, Alessandra, Bertok, Sara, Damante, Giuseppe, Isidor, Bertrand, Peterlin, Borut
Vydáno v Mol Cytogenet (2018)

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Autor Vergult, Sarah, Dheedene, Annelies, Meurs, Alfred, Faes, Fran, Isidor, Bertrand, Janssens, Sandra, Gautier, Agnès, Le Caignec, Cédric, Menten, Björn
Vydáno v Eur J Hum Genet (2015)

Duplications at 19q13.33 in patients with neurodevelopmental disorders

Autor Pérez-Palma, Eduardo, Saarentaus, Elmo, Ravoet, Marie, De Ferrari, Giancarlo V., Nürnberg, Peter, Isidor, Bertrand, Neubauer, Bernd A., Lal, Dennis
Vydáno v Neurol Genet (2018)

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

Autor Vincent, Marie, Karolak, Justyna A., Deutsch, Gail, Gambin, Tomasz, Popek, Edwina, Isidor, Bertrand, Szafranski, Przemyslaw, Le Caignec, Cedric, Stankiewicz, Paweł
Vydáno v Am J Respir Crit Care Med (2019)

First French study relative to preconception genetic testing: 1500 general population participants’ opinion

Autor Bonneau, Valérie, Nizon, Mathilde, Latypova, Xenia, Gaultier, Aurélie, Hoarau, Eugénie, Bézieau, Stéphane, Minguet, Guy, Turrini, Mauro, Jourdain, Maud, Isidor, Bertrand
Vydáno v Orphanet J Rare Dis (2021)

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

Autor Kantaputra, Piranit N, Klopocki, Eva, Hennig, Bianca P, Praphanphoj, Verayuth, Le Caignec, Cédric, Isidor, Bertrand, Kwee, Mei L, Shears, Deborah J, Mundlos, Stefan
Vydáno 2010

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome

Autor Carapito, Raphael, Goldenberg, Alice, Paul, Nicodème, Pichot, Angélique, David, Albert, Hamel, Antoine, Dumant-Forest, Clémentine, Leroux, Julien, Ory, Benjamin, Isidor, Bertrand, Bahram, Seiamak
Vydáno v Eur J Hum Genet (2016)

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1

Autor Garrity, Madison, Kavus, Haluk, Rojas-Vasquez, Marta, Valenzuela, Irene, Larson, Austin, Reed, Sara, Bellus, Gary, Mignot, Cyril, Munnich, Arnold, Isidor, Bertrand, Chung, Wendy K.
Vydáno v Cold Spring Harb Mol Case Stud (2021)

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region

Autor Vallat, Jean-Michel, Nizon, Mathilde, Magee, Alex, Isidor, Bertrand, Magy, Laurent, Péréon, Yann, Richard, Laurence, Ouvrier, Robert, Cogné, Benjamin, Devaux, Jérôme, Zuchner, Stephan, Mathis, Stéphane
Vydáno v J Neuropathol Exp Neurol (2016)

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

Autor Le Gloan, Laurianne, Hauet, Quentin, David, Albert, Hanna, Nadine, Arfeuille, Chloé, Arnaud, Pauline, Boileau, Catherine, Romefort, Bénédicte, Benbrik, Nadir, Gournay, Véronique, Joram, Nicolas, Baron, Olivier, Isidor, Bertrand
Vydáno v Mol Syndromol (2016)

Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes

Autor Collet, Corinne, Ostertag, Agnès, Ricquebourg, Manon, Delecourt, Marine, Tueur, Giulia, Isidor, Bertrand, Guillot, Pascale, Schaefer, Elise, Javier, Rose‐Marie, Funck‐Brentano, Thomas, Orcel, Philippe, Laplanche, Jean‐Louis, Cohen‐Solal, Martine
Vydáno v JBMR Plus (2017)

MAN1B1-CDG: Three new individuals and associated biochemical profiles

Autor Sakhi, Soraya, Cholet, Sophie, Wehbi, Samer, Isidor, Bertrand, Cogne, Benjamin, Vuillaumier-Barrot, Sandrine, Dupré, Thierry, Detleft, Trost, Schmitt, Emmanuelle, Leheup, Bruno, Bonnet, Céline, Feillet, François, Muti, Christine, Fenaille, François, Bruneel, Arnaud
Vydáno v Mol Genet Metab Rep (2021)

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

Autor van Rahden, Vanessa A, Rau, Isabella, Fuchs, Sigrid, Kosyna, Friederike K, de Almeida, Hiram Larangeira, Fryssira, Helen, Isidor, Bertrand, Jauch, Anna, Joubert, Madeleine, Lachmeijer, Augusta M A, Zweier, Christiane, Moog, Ute, Kutsche, Kerstin
Vydáno 2014

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

Autor Tokita, Mari J, Chow, Penny M, Mirzaa, Ghayda, Dikow, Nicola, Maas, Bianca, Isidor, Bertrand, Le Caignec, Cédric, Penney, Lynette S, Mazzotta, Giovanni, Bernardini, Laura, Filippi, Tiziana, Battaglia, Agatino, Donti, Emilio, Earl, Dawn, Prontera, Paolo
Vydáno v Eur J Hum Genet (2015)

MB-33 CLINICAL CHARACTERISTICS OF PATIENTS WITH GERMLINE SUFU MUTATIONS

Autor Rousseau, Léa Guerrini, Bataille, Marine Guillaud, Bourdeaut, Franck, Puget, Stéphanie, Dufour, Christelle, Grill, Jacques, Bressac, Brigitte, Sariban, Eric, Vilain, Catherine, Isidor, Bertrand, Mansuy, Ludovic, Winship, Ingrid, Delattre, Olivier, Couanet, Dominique Valteau, Brugières, Laurence
Vydáno v Neuro Oncol (2016)

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

Autor Isidor, Bertrand, Bourdeaut, Franck, Lafon, Delfine, Plessis, Ghislaine, Lacaze, Elodie, Kannengiesser, Caroline, Rossignol, Sylvie, Pichon, Olivier, Briand, Annaig, Martin-Coignard, Dominique, Piccione, Maria, David, Albert, Delattre, Olivier, Jeanpierre, Cécile, Sévenet, Nicolas, Le Caignec, Cédric
Vydáno 2013