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Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3069, doi. 10.1002/ajmg.a.37940
By:
- Fergelot, Patricia;
- Van Belzen, Martine;
- Van Gils, Julien;
- Afenjar, Alexandra;
- Armour, Christine M.;
- Arveiler, Benoit;
- Beets, Lex;
- Burglen, Lydie;
- Busa, Tiffany;
- Collet, Marie;
- Deforges, Julie;
- de Vries, Bert B. A.;
- Dominguez Garrido, Elena;
- Dorison, Nathalie;
- Dupont, Juliette;
- Francannet, Christine;
- Garciá‐Minaúr, Sixto;
- Gabau Vila, Elisabeth;
- Gebre‐Medhin, Samuel;
- Gener Querol, Blanca
Publication type:
Article
Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.
Published in:
British Journal of Haematology, 2024, v. 204, n. 5, p. 1899, doi. 10.1111/bjh.19387
By:
- Bianchi, Chloé;
- Margot, Henri;
- Fernandes, Helder;
- Pasquet, Marlène;
- Priqueler, Laurence;
- Roy‐Peaud, Frédérique;
- Bauduer, Frédéric;
- Bayart, Sophie;
- Garnier, Nathalie;
- Fain, Olivier;
- Van Gils, Julien;
- Joly, Sandrine Baron;
- Rialland, Fanny;
- Paillard, Catherine;
- Deparis, Marianna;
- Lambilliotte, Anne;
- Leblanc, Thierry;
- Fahd, Mony;
- Leverger, Guy;
- Héritier, Sébastien
Publication type:
Article
Magnetic resonance imaging diagnosis of subependymal giant cell astrocytomas in follow-up of children with tuberous sclerosis complex: should we always use contrast enhancement?
Published in:
2020
By:
- Gaillard, Anne-Lise;
- Crombé, Amandine;
- Jecko, Vincent;
- Bessou, Pierre;
- Havez, Marion;
- Pédespan, Jean-Michel;
- Van Gils, Julien;
- Chateil, Jean-François
Publication type:
journal article
Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome.
Published in:
Journal of Autism & Developmental Disorders, 2017, v. 47, n. 11, p. 3321, doi. 10.1007/s10803-017-3259-1
By:
- Cazalets, Jean;
- Bestaven, Emma;
- Doat, Emilie;
- Baudier, Marie;
- Gallot, Cécile;
- Amestoy, Anouck;
- Bouvard, Manuel;
- Guillaud, Etienne;
- Guillain, Isabelle;
- Grech, Emelyne;
- Van-gils, Julien;
- Fergelot, Patricia;
- Fraisse, Sonia;
- Taupiac, Emmanuelle;
- Arveiler, Benoit;
- Lacombe, Didier
Publication type:
Article
Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome.
Published in:
Communications Biology, 2024, v. 7, n. 1, p. N.PAG, doi. 10.1038/s42003-024-06939-3
By:
- Van Gils, Julien;
- Karkar, Slim;
- Barre, Aurélien;
- Ley-Ngardigal, Seyta;
- Nothof, Sophie;
- Claverol, Stéphane;
- Tokarski, Caroline;
- Trani, Jean-Philippe;
- Chevalier, Raphael;
- Broucqsault, Natacha;
- El Yazidi, Claire;
- Lacombe, Didier;
- Fergelot, Patricia;
- Magdinier, Frédérique
Publication type:
Article
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations.
Published in:
Clinical Genetics, 2019, v. 95, n. 3, p. 420, doi. 10.1111/cge.13493
By:
- Van‐Gils, Julien;
- Naudion, Sophie;
- Toutain, Jérôme;
- Lancelot, Gwenaelle;
- Taine, Laurence;
- Arveiler, Benoit;
- Lacombe, Didier;
- Fergelot, Patricia;
- Attié‐Bitach, Tania;
- Martinovic, Jelena;
- Blesson, Sophie;
- Demeer, Bénédicte;
- Doray, Bérénice;
- Gonzales, Marie;
- Whalen, Sandra
Publication type:
Article
Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.
Published in:
African Health Sciences, 2021, v. 21, n. 2, p. 960, doi. 10.4314/ahs.v21i2.58
By:
- Elalaoui, Siham Chafai;
- Smaili, Wiam;
- Van-Gils, Julien;
- Fergelot, Patricia;
- Ratbi, Ilham;
- Tajir, Mariam;
- Arveiler, Benoit;
- Lacombe, Didier;
- Sefiani, Abdelaziz
Publication type:
Article
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Published in:
2015
By:
- Pilliod, Julie;
- Moutton, Sébastien;
- Lavie, Julie;
- Maurat, Elise;
- Hubert, Christophe;
- Bellance, Nadège;
- Anheim, Mathieu;
- Forlani, Sylvie;
- Mochel, Fanny;
- N'Guyen, Karine;
- Thauvin‐Robinet, Christel;
- Verny, Christophe;
- Milea, Dan;
- Lesca, Gaëtan;
- Koenig, Michel;
- Rodriguez, Diana;
- Houcinat, Nada;
- Van‐Gils, Julien;
- Durand, Christelle M.;
- Guichet, Agnès
Publication type:
journal article
Triple diagnosis of Wiedemann‐Steiner, Waardenburg and DLG3‐related intellectual disability association found by WES: A case report.
Published in:
Journal of Gene Medicine, 2020, v. 22, n. 8, p. 1, doi. 10.1002/jgm.3197
By:
- Matis, Thibaut;
- Michaud, Vincent;
- Van‐Gils, Julien;
- Raclet, Virginie;
- Plaisant, Claudio;
- Fergelot, Patricia;
- Lasseaux, Eulalie;
- Arveiler, Benoit;
- Trimouille, Aurélien
Publication type:
Article
Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis.
Published in:
Arthritis & Rheumatology, 2020, v. 72, n. 10, p. 1689, doi. 10.1002/art.41387
By:
- Ruault, Valentin;
- Yauy, Kevin;
- Fabre, Aurélie;
- Fradin, Mélanie;
- Van-Gils, Julien;
- Angelini, Chloé;
- Baujat, Geneviève;
- Blanchet, Patricia;
- Cuinat, Silvestre;
- Isidor, Bertrand;
- Jorgensen, Christian;
- Lacombe, Didier;
- Moutton, Sébastien;
- Odent, Sylvie;
- Sanchez, Elodie;
- Sigaudy, Sabine;
- Touitou, Isabelle;
- Willems, Marjolaine;
- Apparailly, Florence;
- Geneviève, David
Publication type:
Article
Comment on 'QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44 727 first-trimester prenatal diagnoses'.
Published in:
Prenatal Diagnosis, 2013, v. 33, n. 11, p. 1115, doi. 10.1002/pd.4202
By:
- Toutain, Jérôme;
- Van‐Gils, Julien;
- Horovitz, Jacques;
- Saura, Robert
Publication type:
Article
Chromatin Structure and Dynamics: Focus on Neuronal Differentiation and Pathological Implication.
Published in:
Genes, 2022, v. 13, n. 4, p. 639, doi. 10.3390/genes13040639
By:
- Nothof, Sophie A.;
- Magdinier, Frédérique;
- Van-Gils, Julien
Publication type:
Article
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Published in:
Genes, 2021, v. 12, n. 7, p. 968, doi. 10.3390/genes12070968
By:
- Van Gils, Julien;
- Magdinier, Frederique;
- Fergelot, Patricia;
- Lacombe, Didier
Publication type:
Article

Found: 13