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Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.
Published in:
2016
By:
- Gilbert-Dussardier, Brigitte;
- Briand-Suleau, Audrey;
- Laurendeau, Ingrid;
- Bilan, Frédéric;
- Cavé, Hélène;
- Verloes, Alain;
- Vidaud, Michel;
- Vidaud, Dominique;
- Pasmant, Eric
Publication type:
Letter
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 65, doi. 10.1007/s00439-021-02383-z
By:
- Coursimault, Juliette;
- Guerrot, Anne-Marie;
- Morrow, Michelle M.;
- Schramm, Catherine;
- Zamora, Francisca Millan;
- Shanmugham, Anita;
- Liu, Shuxi;
- Zou, Fanggeng;
- Bilan, Frédéric;
- Le Guyader, Gwenaël;
- Bruel, Ange-Line;
- Denommé-Pichon, Anne-Sophie;
- Faivre, Laurence;
- Tran Mau-Them, Frédéric;
- Tessarech, Marine;
- Colin, Estelle;
- El Chehadeh, Salima;
- Gérard, Bénédicte;
- Schaefer, Elise;
- Cogne, Benjamin
Publication type:
Article
Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia.
Published in:
2019
By:
- Brajadenta, Gara Samara;
- Utari, Agustini;
- Patri, Sylvie;
- Bilan, Frédéric;
- Faradz, Sultana Muhammad Hussein;
- Kitzis, Alain;
- Thoreau, Vincent
Publication type:
Letter to the Editor
Molecular and Clinical Characterization of 25 Individuals With Exonic Deletions of NRXN1 and Comprehensive Review of the Literature.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 4, p. 388, doi. 10.1002/ajmg.b.32148
By:
- Béna, Frédérique;
- Bruno, Damien L.;
- Eriksson, Mats;
- van Ravenswaaij‐Arts, Conny;
- Stark, Zornitza;
- Dijkhuizen, Trijnie;
- Gerkes, Erica;
- Gimelli, Stefania;
- Ganesamoorthy, Devika;
- Thuresson, Ann Charlotte;
- Labalme, Audrey;
- Till, Marianne;
- Bilan, Frédéric;
- Pasquier, Laurent;
- Kitzis, Alain;
- Dubourgm, Christele;
- Rossi, Massimiliano;
- Bottani, Armand;
- Gagnebin, Maryline;
- Sanlaville, Damien
Publication type:
Article
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63476
By:
- Jedraszak, Guillaume;
- Jobic, Florence;
- Receveur, Aline;
- Bilan, Frédéric;
- Gilbert‐Dussardier, Brigitte;
- Tiffany, Busa;
- Missirian, Chantal;
- Willems, Marjolaine;
- Odent, Sylvie;
- Lucas, Josette;
- Dubourg, Christele;
- Schaefer, Elise;
- Scheidecker, Sophie;
- Lespinasse, James;
- Goldenberg, Alice;
- Guerrot, Anne‐Marie;
- Joly‐Helas, Géraldine;
- Chambon, Pascal;
- Le Caignec, Cédric;
- David, Albert
Publication type:
Article
Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: A familial case with 17q21.33-q22 ( COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2504, doi. 10.1002/ajmg.a.36122
By:
- Harbuz, Radu;
- Bilan, Frédéric;
- Couet, Dominique;
- Charraud, Valérie;
- Kitzis, Alain;
- Gilbert‐Dussardier, Brigitte
Publication type:
Article
1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number.
Published in:
NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0059-2
By:
- Xavier, Jean;
- Zhou, Bo;
- Bilan, Frédéric;
- Zhang, Xianglong;
- Gilbert-Dussardier, Brigitte;
- Viaux-Savelon, Sylvie;
- Pattni, Reenal;
- Ho, Steve S.;
- Cohen, David;
- Levinson, Douglas F.;
- Urban, Alexander E.;
- Laurent-Levinson, Claudine
Publication type:
Article
A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.
Published in:
Neuro-Oncology, 2014, v. 16, n. 2, p. 250, doi. 10.1093/neuonc/not165
By:
- Zemmoura, Ilyess;
- Vourc'h, Patrick;
- Paubel, Agathe;
- Parfait, Béatrice;
- Cohen, Joëlle;
- Bilan, Frédéric;
- Kitzis, Alain;
- Rousselot, Cécilia;
- Parker, Fabrice;
- François, Patrick;
- Andres, Christian R.
Publication type:
Article
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 14, p. 2373, doi. 10.1093/hmg/ddad081
By:
- Teunissen, Maria W A;
- Lewerissa, Elly;
- Hugte, Eline J H van;
- Wang, Shan;
- Ockeloen, Charlotte W;
- Koolen, David A;
- Pfundt, Rolph;
- Marcelis, Carlo L M;
- Brilstra, Eva;
- Howe, Jennifer L;
- Scherer, Stephen W;
- Guillou, Xavier Le;
- Bilan, Frédéric;
- Primiano, Michelle;
- Roohi, Jasmin;
- Piton, Amelie;
- Martin, Anne de Saint;
- Baer, Sarah;
- Seiffert, Simone;
- Platzer, Konrad
Publication type:
Article
Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients.
Published in:
2020
By:
- Abadie, Véronique;
- Hamiaux, Priscilla;
- Ragot, Stéphanie;
- Legendre, Marine;
- Malecot, Gaelle;
- Burtin, Alexia;
- Attie-Bitach, Tania;
- Lyonnet, Stanislas;
- Bilan, Frédéric;
- Gilbert-Dussardier, Brigitte;
- Vaivre-Douret, Laurence
Publication type:
journal article
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Published in:
2019
By:
- Moradkhani, Kamran;
- Cuisset, Laurence;
- Boisseau, Pierre;
- Pichon, Olivier;
- Lebrun, Marine;
- Hamdi‐Rozé, Houda;
- Maurin, Marie‐Laure;
- Gruchy, Nicolas;
- Manca‐Pellissier, Marie‐Christine;
- Malzac, Perrine;
- Bilan, Frédéric;
- Audrezet, Marie‐Pierre;
- Saugier‐Veber, Pascale;
- Fauret‐Amsellem, Anne‐Laure;
- Missirian, Chantal;
- Kuentz, Paul;
- Egea, Gregory;
- Guichet, Agnès;
- Creveaux, Isabelle;
- Janel, Caroline
Publication type:
journal article

Found: 11