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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 885, doi. 10.1007/s00439-020-02252-1
By:
- Jeanne, Médéric;
- Vuillaume, Marie-Laure;
- Ung, Dévina C.;
- Vancollie, Valerie E.;
- Wagner, Christel;
- Collins, Stephan C.;
- Vonwill, Sandrine;
- Haye, Damien;
- Chelloug, Nora;
- Pfundt, Rolph;
- Kummeling, Joost;
- Moizard, Marie-Pierre;
- Marouillat, Sylviane;
- Kleefstra, Tjitske;
- Yalcin, Binnaz;
- Laumonnier, Frédéric;
- Toutain, Annick
Publication type:
Article
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1936, doi. 10.1002/ajmg.a.38217
By:
- Poli, Antoine;
- Vial, Yoann;
- Haye, Damien;
- Passemard, Sandrine;
- Schiff, Manuel;
- Nasser, Hala;
- Delanoe, Catherine;
- Cuadro, Emma;
- Kom, Rémi;
- Elanga, Narcisse;
- Favre, Anne;
- Drunat, Séverine;
- Verloes, Alain
Publication type:
Article
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2750, doi. 10.1002/ajmg.a.37825
By:
- Haye, Damien;
- Dridi, Hend;
- Levy, Jonathan;
- Lambert, Véronique;
- Lambert, Maurice;
- Agha, Mohamed;
- Adjimi, Frédéric;
- Kohlhase, Jürgen;
- Lipsker, Dan;
- Verloes, Alain
Publication type:
Article
Prenatal findings in carpenter syndrome and a novel mutation in RAB23.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2926, doi. 10.1002/ajmg.a.36726
By:
- Haye, Damien;
- Collet, Corinne;
- Sembely‐Taveau, Catherine;
- Haddad, Georges;
- Denis, Christelle;
- Soulé, Nathalie;
- Suc, Annie‐Laure;
- Listrat, Antoine;
- Toutain, Annick
Publication type:
Article
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
2019
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Correction Notice
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Article
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Article
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 560, doi. 10.1111/cge.14274
By:
- Ghesh, Leïla;
- Désir, Julie;
- Haye, Damien;
- Le Tanno, Pauline;
- Devillard, Françoise;
- Cogné, Benjamin;
- Marangoni, Martina;
- Tecco, Laura;
- Heron, Delphine;
- Le Vaillant, Claudine;
- Joubert, Madeleine;
- Beneteau, Claire
Publication type:
Article
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 401, doi. 10.1111/cge.14291
By:
- Masson, Julie;
- Pebrel‐Richard, Céline;
- Egloff, Matthieu;
- Frétigny, Mathilde;
- Beaumont, Marion;
- Uguen, Kevin;
- Rollat‐Farnier, Pierre‐Antoine;
- Diguet, Flavie;
- Perthus, Isabelle;
- Le Gudayer, Gwenaël;
- Haye, Damien;
- Dupeyron, Marie‐Noëlle Bonnet;
- Putoux, Audrey;
- Raskin‐Champion, Fabienne;
- Till, Marianne;
- Chatron, Nicolas;
- Doray, Bérénice;
- Bardel, Claire;
- Vinciguerra, Christine;
- Sanlaville, Damien
Publication type:
Article
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.
Published in:
Clinical Genetics, 2022, v. 101, n. 3, p. 307, doi. 10.1111/cge.14096
By:
- Vibert, Roseline;
- Mignot, Cyril;
- Keren, Boris;
- Chantot‐Bastaraud, Sandra;
- Portnoï, Marie‐France;
- Nouguès, Marie‐Christine;
- Moutard, Marie‐Laure;
- Faudet, Anne;
- Whalen, Sandra;
- Haye, Damien;
- Garel, Catherine;
- Chatron, Nicolas;
- Rossi, Massimiliano;
- Vincent‐Delorme, Catherine;
- Boute, Odile;
- Delobel, Bruno;
- Andrieux, Joris;
- Devillard, Françoise;
- Coutton, Charles;
- Puechberty, Jacques
Publication type:
Article
Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay.
Published in:
Cells (2073-4409), 2021, v. 10, n. 6, p. 1289, doi. 10.3390/cells10061289
By:
- Vermehren-Schmaedick, Anke;
- Huang, Jeffrey Y.;
- Levinson, Madison;
- Pomaville, Matthew B.;
- Reed, Sarah;
- Bellus, Gary A.;
- Gilbert, Fred;
- Keren, Boris;
- Heron, Delphine;
- Haye, Damien;
- Janello, Christine;
- Makowski, Christine;
- Danhauser, Katharina;
- Fedorov, Lev M.;
- Haack, Tobias B.;
- Wright, Kevin M.;
- Cohen, Michael S.
Publication type:
Article

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