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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1837, doi. 10.1093/brain/awad403
By:
- Rinaldi, Berardo;
- Bayat, Allan;
- Zachariassen, Linda G;
- Sun, Jia-Hui;
- Ge, Yu-Han;
- Zhao, Dan;
- Bonde, Kristine;
- Madsen, Laura H;
- Awad, Ilham Abdimunim Ali;
- Bagiran, Duygu;
- Sbeih, Amal;
- Shah, Syeda Maidah;
- El-Sayed, Shaymaa;
- Lyngby, Signe M;
- Pedersen, Miriam G;
- Stenum-Berg, Charlotte;
- Walker, Louise Claudia;
- Krey, Ilona;
- Delahaye-Duriez, Andrée;
- Emrick, Lisa T
Publication type:
Article
Decreased microglial Wnt/β-catenin signalling drives microglial pro-inflammatory activation in the developing brain.
Published in:
2019
By:
- Steenwinckel, Juliette Van;
- Schang, Anne-Laure;
- Krishnan, Michelle L;
- Degos, Vincent;
- Delahaye-Duriez, Andrée;
- Bokobza, Cindy;
- Csaba, Zsolt;
- Verdonk, Franck;
- Montané, Amélie;
- Sigaut, Stéphanie;
- Hennebert, Olivier;
- Lebon, Sophie;
- Schwendimann, Leslie;
- Charpentier, Tifenn Le;
- Hassan-Abdi, Rahma;
- Ball, Gareth;
- Aljabar, Paul;
- Saxena, Alka;
- Holloway, Rebecca K;
- Birchmeier, Walter
Publication type:
journal article
Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2430, doi. 10.1002/ajmg.a.35548
By:
- Delahaye, Andrée;
- Khung-Savatovsky, Suonavy;
- Aboura, Azzedine;
- Guimiot, Fabien;
- Drunat, Séverine;
- Alessandri, Jean-Luc;
- Gérard, Marion;
- Bitoun, Pierre;
- Boumendil, Julien;
- Robin, Stéphanie;
- Huel, Chan;
- Guilherme, Romain;
- Serero, Stéphane;
- Gressens, Pierre;
- Elion, Jacques;
- Verloes, Alain;
- Benzacken, Brigitte;
- Delezoide, Anne-Lise;
- Pipiras, Eva
Publication type:
Article
Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1612, doi. 10.1002/ajmg.a.35401
By:
- Bahi-Buisson, Nadia;
- Villeneuve, Nathalie;
- Caietta, Emilie;
- Jacquette, Aurélia;
- Maurey, Helene;
- Matthijs, Gert;
- Van Esch, Hilde;
- Delahaye, Andrée;
- Moncla, Anne;
- Milh, Mathieu;
- Zufferey, Flore;
- Diebold, Bertrand;
- Bienvenu, Thierry
Publication type:
Article
Identification de cibles thérapeutiques et repositionnement de médicaments par analyses de réseaux géniques.
Published in:
Médecine Sciences, 2019, v. 35, n. 6/7, p. 515, doi. 10.1051/medsci/2019108
By:
- Delahaye-Duriez, Andrée;
- Réda, Clémence;
- Gressens, Pierre
Publication type:
Article
Mutations in the C-terminus of CDKL5: proceed with caution.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 2, p. 270, doi. 10.1038/ejhg.2013.133
By:
- Diebold, Bertrand;
- Delépine, Chloé;
- Gataullina, Svetlana;
- Delahaye, Andrée;
- Nectoux, Juliette;
- Bienvenu, Thierry
Publication type:
Article
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 5, p. 527, doi. 10.1038/ejhg.2011.233
By:
- Delahaye, Andrée;
- Bitoun, Pierre;
- Drunat, Séverine;
- Gérard-Blanluet, Marion;
- Chassaing, Nicolas;
- Toutain, Annick;
- Verloes, Alain;
- Gatelais, Frédérique;
- Legendre, Marie;
- Faivre, Laurence;
- Passemard, Sandrine;
- Aboura, Azzedine;
- Kaltenbach, Sophie;
- Quentin, Samuel;
- Dupont, Céline;
- Tabet, Anne-Claude;
- Amselem, Serge;
- Elion, Jacques;
- Gressens, Pierre;
- Pipiras, Eva
Publication type:
Article
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Published in:
Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0015-2
By:
- Tabet, Anne-Claude;
- Verloes, Alain;
- Pilorge, Marion;
- Delaby, Elsa;
- Delorme, Richard;
- Nygren, Gudrun;
- Devillard, Françoise;
- Gérard, Marion;
- Passemard, Sandrine;
- Héron, Delphine;
- Siffroi, Jean-Pierre;
- Jacquette, Aurelia;
- Delahaye, Andrée;
- Perrin, Laurence;
- Dupont, Céline;
- Aboura, Azzedine;
- Bitoun, Pierre;
- Coleman, Mary;
- Leboyer, Marion;
- Gillberg, Christopher
Publication type:
Article
New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
Published in:
Clinical Genetics, 2020, v. 97, n. 4, p. 639, doi. 10.1111/cge.13688
By:
- Larcher, Lise;
- Buratti, Julien;
- Héron‐Longe, Bénédicte;
- Benzacken, Brigitte;
- Pipiras, Eva;
- Keren, Boris;
- Delahaye‐Duriez, Andrée
Publication type:
Article
Retrospective Diagnosis of Pallister-Killian Syndrome by CGH Array.
Published in:
Fetal Diagnosis & Therapy, 2006, v. 21, n. 6, p. 485, doi. 10.1159/000095658
By:
- Delahaye, Andrée;
- Pipiras, Eva;
- Delorme-Vincent, Catherine;
- Benkhalifa, Moncef;
- Kasakyan, Serdar;
- Devisme, Louise;
- Wolf, Jean-Philippe;
- Benzacken, Brigitte
Publication type:
Article
The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever<FN ID="fn1">Communicated by Dvorah Abeliovich</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #653 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/653.pdf</FN>
Published in:
Human Mutation, 2003, v. 22, n. 4, p. 339, doi. 10.1002/humu.9182
By:
- Dimitri Tchernitchko;
- Marie Legendre;
- Cécile Cazeneuve;
- Andrée Delahaye;
- Florence Niel
Publication type:
Article
Impact of Fetal Growth Restriction on the Neonatal Microglial Proteome in the Rat.
Published in:
Nutrients, 2021, v. 13, n. 11, p. 3719, doi. 10.3390/nu13113719
By:
- Zinni, Manuela;
- Pansiot, Julien;
- Colella, Marina;
- Faivre, Valérie;
- Delahaye-Duriez, Andrée;
- Guillonneau, François;
- Bruce, Johanna;
- Salnot, Virginie;
- Mairesse, Jérôme;
- Knoop, Marit;
- Possovre, Marie-Laure;
- Vaiman, Daniel;
- Baud, Olivier
Publication type:
Article

Found: 12