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FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32970
By:
- Mazel, Benoit;
- Delanne, Julian;
- Garde, Aurore;
- Racine, Caroline;
- Bruel, Ange‐Line;
- Duffourd, Yannis;
- Lopergolo, Diego;
- Santorelli, Filippo Maria;
- Marchi, Viviana;
- Pinto, Anna Maria;
- Mencarelli, Maria Antonietta;
- Canitano, Roberto;
- Valentino, Floriana;
- Papa, Filomena Tiziana;
- Fallerini, Chiara;
- Mari, Francesca;
- Renieri, Alessandra;
- Munnich, Arnold;
- Niclass, Tanguy;
- Le Guyader, Gwenaël
Publication type:
Article
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1600, doi. 10.1002/ajmg.a.62642
By:
- Tharreau, Mylène;
- Garde, Aurore;
- Marlin, Sandrine;
- Morel, Godelieve;
- Ernest, Sylvain;
- Nambot, Sophie;
- Duffourd, Yannis;
- Ternoy, Ninon;
- Duvillard, Christian;
- Banka, Siddharth;
- Philippe, Christophe;
- Thauvin‐Robinet, Christel;
- Mau‐Them, Frederic Tran;
- Faivre, Laurence
Publication type:
Article
Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1756, doi. 10.1002/ajmg.a.61273
By:
- Lehalle, Daphné;
- Colombo, Roberto;
- O'Grady, Michael;
- Héron, Bénédicte;
- Houcinat, Nada;
- Kuentz, Paul;
- Moutton, Sebastien;
- Sorlin, Arthur;
- Thevenon, Julien;
- Delanne, Julian;
- Gay, Sebastien;
- Racine, Caroline;
- Garde, Aurore;
- Tran Mau‐Them, Frédéric;
- Philippe, Christophe;
- Vitobello, Antonio;
- Nambot, Sophie;
- Huet, Frédéric;
- Duffourd, Yannis;
- Feillet, François
Publication type:
Article
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.
Published in:
EMBO Journal, 2020, v. 39, n. 13, p. 1, doi. 10.15252/embj.2019104163
By:
- Bertacchi, Michele;
- Romano, Anna Lisa;
- Loubat, Agnès;
- Tran Mau‐Them, Frederic;
- Willems, Marjolaine;
- Faivre, Laurence;
- Khau van Kien, Philippe;
- Perrin, Laurence;
- Devillard, Françoise;
- Sorlin, Arthur;
- Kuentz, Paul;
- Philippe, Christophe;
- Garde, Aurore;
- Neri, Francesco;
- Di Giaimo, Rossella;
- Oliviero, Salvatore;
- Cappello, Silvia;
- D'Incerti, Ludovico;
- Frassoni, Carolina;
- Studer, Michèle
Publication type:
Article
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Published in:
Clinical Genetics, 2021, v. 99, n. 5, p. 650, doi. 10.1111/cge.13918
By:
- Garde, Aurore;
- Guibaud, Laurent;
- Goldenberg, Alice;
- Petit, Florence;
- Dard, Rodolphe;
- Roume, Joelle;
- Mazereeuw‐Hautier, Juliette;
- Chassaing, Nicolas;
- Lacombe, Didier;
- Morice‐Picard, Fanny;
- Toutain, Annick;
- Arpin, Stéphanie;
- Boccara, Olivia;
- Touraine, Renaud;
- Blanchet, Patricia;
- Coubes, Christine;
- Willems, Marjolaine;
- Pinson, Lucile;
- Van Kien, Philippe Khau;
- Chiaverini, Christine
Publication type:
Article
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations.
Published in:
Clinical Genetics, 2021, v. 99, n. 3, p. 407, doi. 10.1111/cge.13894
By:
- Garde, Aurore;
- Cornaton, Jenny;
- Sorlin, Arthur;
- Moutton, Sébastien;
- Nicolas, Claire;
- Juif, Christine;
- Geneviève, David;
- Perrin, Laurence;
- Khau‐Van‐Kien, Philippe;
- Smol, Thomas;
- Vincent‐Delorme, Catherine;
- Isidor, Bertrand;
- Cogné, Benjamin;
- Afenjar, Alexandra;
- Keren, Boris;
- Coubes, Christine;
- Prieur, Fabienne;
- Toutain, Annick;
- Trousselet, Yann;
- Bourgouin, Solène
Publication type:
Article
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH.
Published in:
Annals of Human Genetics, 2022, v. 86, n. 4, p. 171, doi. 10.1111/ahg.12459
By:
- Tisserant, Emilie;
- Vitobello, Antonio;
- Callegarin, Davide;
- Verdez, Simon;
- Bruel, Ange‐line;
- Aho Glele, Ludwig Serge;
- Sorlin, Arthur;
- Viora‐Dupont, Eleonore;
- Konyukh, Marina;
- Marle, Nathalie;
- Nambot, Sophie;
- Moutton, Sébastien;
- Racine, Caroline;
- Garde, Aurore;
- Delanne, Julian;
- Tran‐Mau‐Them, Frédéric;
- Philippe, Christophe;
- Kuentz, Paul;
- Poulleau, Marlène;
- Payet, Muriel
Publication type:
Article
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Published in:
Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1099995
By:
- Mau-Them, Frédéric Tran;
- Delanne, Julian;
- Denommé-Pichon, Anne-Sophie;
- Safraou, Hana;
- Bruel, Ange-Line;
- Vitobello, Antonio;
- Garde, Aurore;
- Nambot, Sophie;
- Bourgon, Nicolas;
- Racine, Caroline;
- Sorlin, Arthur;
- Moutton, Sébastien;
- Marle, Nathalie;
- Rousseau, Thierry;
- Sagot, Paul;
- Simon, Emmanuel;
- Vincent-Delorme, Catherine;
- Boute, Odile;
- Colson, Cindy;
- Petit, Florence
Publication type:
Article

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