Syndrome de Costello: à propos d'une observation

por Tajir, Mariam, Fergelot, Patricia, Lancelot, Gwenaelle, Arveiler, Benoit, Elalaoui, Siham Chafai, Lacombe, Didier, Sefiani, Abdelaziz
Publicado 2012

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

por Tingaud‐Sequeira, Angèle, Trimouille, Aurélien, Marlin, Sandrine, Lopez, Estelle, Berenguer, Marie, Gherbi, Souad, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline
Publicado 2020

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

por Elalaoui, Siham Chafai, Smaili, Wiam, Van-Gils, Julien, Fergelot, Patricia, Ratbi, Ilham, Tajir, Mariam, Arveiler, Benoit, Lacombe, Didier, Sefiani, Abdelaziz
Publicado 2021

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

por Michaud, Vincent, Lasseaux, Eulalie, Green, David J., Gerrard, Dave T., Plaisant, Claudio, Fitzgerald, Tomas, Birney, Ewan, Arveiler, Benoît, Black, Graeme C., Sergouniotis, Panagiotis I.
Publicado 2022

The Dct(−/−) Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism

por Tingaud-Sequeira, Angèle, Mercier, Elina, Michaud, Vincent, Pinson, Benoît, Gazova, Ivet, Gontier, Etienne, Decoeur, Fanny, McKie, Lisa, Jackson, Ian J., Arveiler, Benoît, Javerzat, Sophie
Publicado 2022

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation

por Moreno-Artero, Ester, Morice-Picard, Fanny, Lasseaux, Eulalie, Robert, Matthieu P., Coste, Valentine, Michaud, Vincent, Leclerc-Mercier, Stéphanie, Bremond-Gignac, Dominique, Arveiler, Benoit, Hadj-Rabia, Smail
Publicado 2022

The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible

por Hinzpeter, Alexandre, Reboul, Marie‐Pierre, Callebaut, Isabelle, Zordan, Cécile, Costes, Bruno, Guichoux, Julie, Iron, Albert, Lacombe, Didier, Martin, Natacha, Arveiler, Benoit, Fanen, Pascale, Fergelot, Patricia, Girodon, Emmanuelle
Publicado 2017

Ophthalmologic Phenotype–Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

por Seguy, Paul-Henri, Korobelnik, Jean-François, Delyfer, Marie-Noëlle, Michaud, Vincent, Arveiler, Benoit, Lasseaux, Eulalie, Gattoussi, Sarra, Rougier, Marie-Bénédicte, Trin, Kilian, Morice-Picard, Fanny, Ghomashchi, Nathalie, Coste, Valentine
Publicado 2023

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

por Trimouille, Aurélien, Marguet, Florent, Sauvestre, Fanny, Lasseaux, Eulalie, Pelluard, Fanny, Martin-Négrier, Marie-Laure, Plaisant, Claudio, Rooryck, Caroline, Lacombe, Didier, Arveiler, Benoît, Boespflug-Tanguy, Odile, Naudion, Sophie, Laquerrière, Annie
Publicado 2020

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency

por Joly, Philippe, Vignaud, Hélène, Di Martino, Julie, Ruiz, Mathias, Garin, Roman, Restier, Lioara, Belmalih, Abdelouahed, Marchal, Christelle, Cullin, Christophe, Arveiler, Benoit, Fergelot, Patricia, Gitler, Aaron D., Lachaux, Alain, Couthouis, Julien, Bouchecareilh, Marion
Publicado 2017

Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

por Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, van Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta
Publicado 2020

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

por Kruijt, Charlotte C., Gradstein, Libe, Bergen, Arthur A., Florijn, Ralph J., Arveiler, Benoit, Lasseaux, Eulalie, Zanlonghi, Xavier, Bagdonaite-Bejarano, Laura, Fulton, Anne B., Yahalom, Claudia, Blumenfeld, Anat, Perez, Yonatan, Birk, Ohad S., de Wit, Gerard C., Schalij-Delfos, Nicoline E., van Genderen, Maria M.
Publicado 2022

New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

por Pierron, Denis, Rocher, Christophe, Amati-Bonneau, Patricia, Reynier, Pascal, Martin-Négrier, Marie-Laure, Allouche, Stéphane, Batandier, Cécile, de Camaret, Benedicte Mousson, Godinot, Catherine, Rotig, Agnes, Feldmann, Delphine, Bellanne-Chantelot, Christine, Arveiler, Benoit, Pennarun, Erwann, Rossignol, Rodrigue, Crouzet, Marc, Murail, Pascal, Thoraval, Didier, Letellier, Thierry
Publicado 2008

ARF1-related disorder: phenotypic and molecular spectrum

por de Sainte Agathe, Jean-Madeleine, Pode-Shakked, Ben, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Fergelot, Patricia, Delmas, Jean, Keren, Boris, Poirsier, Céline, Alkuraya, Fowzan S, Tabarki, Brahim, Bend, Eric, Davis, Kellie, Bebin, Martina, Thompson, Michelle L, Bryant, Emily M, Wagner, Matias, Hannibal, Iris, Lenberg, Jerica, Krenn, Martin, Wigby, Kristen M, Friedman, Jennifer R, Iascone, Maria, Cereda, Anna, Miao, Térence, LeGuern, Eric, Argilli, Emanuela, Sherr, Elliott, Caluseriu, Oana, Tidwell, Timothy, Bayrak-Toydemir, Pinar, Hagedorn, Caroline, Brugger, Melanie, Vill, Katharina, Morneau-Jacob, Francois-Dominique, Chung, Wendy, Weaver, Kathryn N, Owens, Joshua W, Husami, Ammar, Chaudhari, Bimal P, Stone, Brandon S, Burns, Katie, Li, Rachel, de Lange, Iris M, Biehler, Margaux, Ginglinger, Emmanuelle, Gérard, Bénédicte, Stottmann, Rolf W, Trimouille, Aurélien
Publicado 2023