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Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-148
By:
- Nizon, Mathilde;
- Ottolenghi, Chris;
- Valayannopoulos, Vassili;
- Arnoux, Jean-Baptiste;
- Barbier, Valérie;
- Habarou, Florence;
- Desguerre, Isabelle;
- Boddaert, Nathalie;
- Bonnefont, Jean-Paul;
- Acquaviva, Cécile;
- Benoist, Jean-François;
- Rabier, Daniel;
- Touati, Guy;
- de Lonlay, Pascale
Publication type:
Article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Published in:
2013
By:
- Nizon, Mathilde;
- Ottolenghi, Chris;
- Valayannopoulos, Vassili;
- Arnoux, Jean-Baptiste;
- Barbier, Valérie;
- Habarou, Florence;
- Desguerre, Isabelle;
- Boddaert, Nathalie;
- Bonnefont, Jean-Paul;
- Acquaviva, Cécile;
- Benoist, Jean-François;
- Rabier, Daniel;
- Touati, Guy;
- de Lonlay, Pascale
Publication type:
journal article
Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2616, doi. 10.3390/ijms22052616
By:
- Mangin, Antoine;
- de Pontual, Laure;
- Tsai, Yu-Chih;
- Monteil, Laetitia;
- Nizon, Mathilde;
- Boisseau, Pierre;
- Mercier, Sandra;
- Ziegle, Janet;
- Harting, John;
- Heiner, Cheryl;
- Gourdon, Geneviève;
- Tomé, Stéphanie;
- Tegeder, Irmgard
Publication type:
Article
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Published in:
Human Genetics, 2024, v. 143, n. 3, p. 455, doi. 10.1007/s00439-024-02655-4
By:
- Herbst, Charlotte;
- Bothe, Viktoria;
- Wegler, Meret;
- Axer-Schaefer, Susanne;
- Audebert-Bellanger, Séverine;
- Gecz, Jozef;
- Cogne, Benjamin;
- Feldman, Hagit Baris;
- Horn, Anselm H. C.;
- Hurst, Anna C. E.;
- Kelly, Melissa A.;
- Kruer, Michael C.;
- Kurolap, Alina;
- Laquerriere, Annie;
- Li, Megan;
- Mark, Paul R.;
- Morawski, Markus;
- Nizon, Mathilde;
- Pastinen, Tomi;
- Polster, Tilman
Publication type:
Article
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63559
By:
- Ha, Thoa;
- Morgan, Angela;
- Bartos, Meghan N.;
- Beatty, Katelyn;
- Cogné, Benjamin;
- Braun, Dominique;
- Gerber, Céline B.;
- Gaspar, Harald;
- Kopps, Anna M.;
- Rieubland, Claudine;
- Hurst, Anna C. E.;
- Amor, David J.;
- Nizon, Mathilde;
- Pasquier, Laurent;
- Pfundt, Rolph;
- Reis, André;
- Siu, Victoria Mok;
- Tessarech, Marine;
- Thompson, Michelle L.;
- Vincent, Marie
Publication type:
Article
Growth charts in DYRK1A syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 9, doi. 10.1002/ajmg.a.63412
By:
- Lanvin, Pierre‐Louis;
- Goronflot, Thomas;
- Isidor, Bertrand;
- Nizon, Mathilde;
- Durand, Benjamin;
- El Chehadeh, Salima;
- Geneviève, David;
- Ruault, Valentin;
- Fradin, Mélanie;
- Pasquier, Laurent;
- Thévenon, Julien;
- Delobel, Bruno;
- Burglen, Lydie;
- Afenjar, Alexandra;
- Faivre, Laurence;
- Francannet, Christine;
- Guerrot, Anne‐Marie;
- Goldenberg, Alice;
- Mercier, Sandra;
- Héron, Delphine
Publication type:
Article
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 52, doi. 10.1002/ajmg.a.62983
By:
- Jouret, Guillaume;
- Egloff, Matthieu;
- Landais, Emilie;
- Tassy, Olivier;
- Giuliano, Fabienne;
- Karmous‐Benailly, Houda;
- Coutton, Charles;
- Satre, Véronique;
- Devillard, Françoise;
- Dieterich, Klaus;
- Vieville, Gaëlle;
- Kuentz, Paul;
- le Caignec, Cédric;
- Beneteau, Claire;
- Isidor, Bertrand;
- Nizon, Mathilde;
- Callier, Patrick;
- Marquet, Valentine;
- Bieth, Eric;
- Lévy, Jonathan
Publication type:
Article
14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1519, doi. 10.1002/ajmg.a.62117
By:
- Eno, Celeste C.;
- Graakjaer, Jesper;
- Svaneby, Dea;
- Nizon, Mathilde;
- Kianmahd, Jessica;
- Signer, Rebecca;
- Martinez‐Agosto, Julian A.;
- Quintero‐Rivera, Fabiola
Publication type:
Article
11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 993, doi. 10.1002/ajmg.a.61113
By:
- Conrad, Solène;
- Demurger, Florence;
- Moradkhani, Kamran;
- Pichon, Olivier;
- Le Caignec, Cédric;
- Pascal, Cécile;
- Thomas, Caroline;
- Bayart, Sophie;
- Perlat, Antoinette;
- Dubourg, Christèle;
- Jaillard, Sylvie;
- Nizon, Mathilde
Publication type:
Article
Familial autosomal dominant severe ankyloglossia with tooth abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1614, doi. 10.1002/ajmg.a.38690
By:
- Lenormand, Anaëlle;
- Khonsari, Roman;
- Corre, Pierre;
- Perrin, Jean Philippe;
- Boscher, Cécile;
- Nizon, Mathilde;
- Pichon, Olivier;
- David, Albert;
- Le Caignec, Cedric;
- Bertin, Helios;
- Isidor, Bertrand
Publication type:
Article
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 116, doi. 10.1002/ajmg.a.37384
By:
- El Chehadeh, Salima;
- Faivre, Laurence;
- Mosca‐Boidron, Anne‐Laure;
- Malan, Valérie;
- Amiel, Jeanne;
- Nizon, Mathilde;
- Touraine, Renaud;
- Prieur, Fabienne;
- Pasquier, Laurent;
- Callier, Patrick;
- Lefebvre, Mathilde;
- Marle, Nathalie;
- Dubourg, Christèle;
- Julia, Sophie;
- Sarret, Catherine;
- Francannet, Christine;
- Laffargue, Fanny;
- Boespflug‐Tanguy, Odile;
- David, Albert;
- Isidor, Bertrand
Publication type:
Article
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1908, doi. 10.1002/ajmg.a.37094
By:
- Thevenon, Julien;
- Michot, Caroline;
- Bole, Christine;
- Nitschke, Patrick;
- Nizon, Mathilde;
- Faivre, Laurence;
- Munnich, Arnold;
- Lyonnet, Stanislas;
- Bonnefont, Jean‐Paul;
- Portes, Vincent Des;
- Amiel, Jeanne
Publication type:
Article
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 111, doi. 10.1002/ajmg.a.36807
By:
- Nizon, Mathilde;
- Andrieux, Joris;
- Rooryck, Caroline;
- de Blois, Marie‐Christine;
- Bourel‐Ponchel, Emilie;
- Bourgois, Béatrice;
- Boute, Odile;
- David, Albert;
- Delobel, Bruno;
- Duban‐Bedu, Bénédicte;
- Giuliano, Fabienne;
- Goldenberg, Alice;
- Grotto, Sarah;
- Héron, Delphine;
- Karmous‐Benailly, Houda;
- Keren, Boris;
- Lacombe, Didier;
- Lapierre, Jean‐Michel;
- Le Caignec, Cédric;
- Le Galloudec, Eric
Publication type:
Article
IMPAD1 mutations in two Catel-Manzke like patients.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2183, doi. 10.1002/ajmg.a.35504
By:
- Nizon, Mathilde;
- Alanay, Yasemin;
- Tuysuz, Beyhan;
- Kiper, Pelin Ozlem Simsek;
- Geneviève, David;
- Sillence, David;
- Huber, Celine;
- Munnich, Arnold;
- Cormier-Daire, Prof. Valérie
Publication type:
Article
Le savoir doit-il s'imposer ? Un enjeu majeur de la génétique à haut débit.
Published in:
Médecine Sciences, 2017, v. 33, n. 11, p. 1001, doi. 10.1051/medsci/20173311019
By:
- Isidor, Bertrand;
- Julia, Sophie;
- Nizon, Mathilde;
- Vincent, Marie
Publication type:
Article
Clinical and neuroradiological features of the 9p deletion syndrome.
Published in:
Child's Nervous System, 2016, v. 32, n. 2, p. 327, doi. 10.1007/s00381-015-2957-2
By:
- Spazzapan, Peter;
- Arnaud, Eric;
- Baujat, Genevieve;
- Nizon, Mathilde;
- Malan, Valerie;
- Brunelle, Francis;
- Di Rocco, Federico
Publication type:
Article
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Published in:
2023
By:
- Giannuzzi, Giuliana;
- Chatron, Nicolas;
- Mannik, Katrin;
- Auwerx, Chiara;
- Pradervand, Sylvain;
- Willemin, Gilles;
- Hoekzema, Kendra;
- Nuttle, Xander;
- Chrast, Jacqueline;
- Sadler, Marie C.;
- Porcu, Eleonora;
- Männik, Katrin;
- Sanlaville, Damien;
- Schluth-Bolard, Caroline;
- Le Caignec, Cédric;
- Nizon, Mathilde;
- Martin, Sandra;
- Jacquemont, Sébastien;
- Bottani, Armand;
- Gérard, Marion
Publication type:
Correction Notice
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00308-x
By:
- Giannuzzi, Giuliana;
- Chatron, Nicolas;
- Mannik, Katrin;
- Auwerx, Chiara;
- Pradervand, Sylvain;
- Willemin, Gilles;
- Hoekzema, Kendra;
- Nuttle, Xander;
- Chrast, Jacqueline;
- Sadler, Marie C.;
- Porcu, Eleonora;
- 16p11.2 Consortium;
- Männik, Katrin;
- Sanlaville, Damien;
- Schluth-Bolard, Caroline;
- Le Caignec, Cédric;
- Nizon, Mathilde;
- Martin, Sandra;
- Jacquemont, Sébastien;
- Bottani, Armand
Publication type:
Article
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Published in:
Life Science Alliance, 2024, v. 7, n. 3, p. 1, doi. 10.26508/lsa.202302258
By:
- Koch, Intisar;
- Slovik, Maya;
- Yuling Zhang;
- Bingyu Liu;
- Rennie, Martin;
- Konz, Emily;
- Cogne, Benjamin;
- Daana, Muhannad;
- Davids, Laura;
- Diets, Illja J.;
- Gold, Nina B.;
- Holtz, Alexander M.;
- Isidor, Bertrand;
- Mor-Shaked, Hagar;
- Fresneda, Juanita Neira;
- Niederhoffer, Karen Y.;
- Nizon, Mathilde;
- Pfundt, Rolph;
- Simon, M. E. H.;
- Stegmann, A. P. A.
Publication type:
Article
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Published in:
Clinical Genetics, 2023, v. 103, n. 2, p. 156, doi. 10.1111/cge.14247
By:
- Niceta, Marcello;
- Pizzi, Simone;
- Inzana, Francesca;
- Peron, Angela;
- Bakhtiari, Somayeh;
- Nizon, Mathilde;
- Levy, Jonathan;
- Mancini, Cecilia;
- Cogné, Benjamin;
- Radio, Francesca Clementina;
- Agolini, Emanuele;
- Cocciadiferro, Dario;
- Novelli, Antonio;
- Salih, Mustafa A.;
- Recalcati, Maria Paola;
- Arancio, Rosangela;
- Besnard, Marianne;
- Tabet, Anne‐Claude;
- Kruer, Michael C.;
- Priolo, Manuela
Publication type:
Article
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Published in:
Clinical Genetics, 2022, v. 101, n. 5/6, p. 494, doi. 10.1111/cge.14123
By:
- Chesneau, Bertrand;
- Aubert-Mucca, Marion;
- Fremont, Félix;
- Pechmeja, Jacmine;
- Soler, Vincent;
- Isidor, Bertrand;
- Nizon, Mathilde;
- Dollfus, Hélène;
- Kaplan, Josseline;
- Fares-Taie, Lucas;
- Rozet, Jean-Michel;
- Busa, Tiffany;
- Lacombe, Didier;
- Naudion, Sophie;
- Amiel, Jeanne;
- Rio, Marlène;
- Attie-Bitach, Tania;
- Lesage, Cécile;
- Thouvenin, Dominique;
- Odent, Sylvie
Publication type:
Article
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Published in:
Clinical Genetics, 2020, v. 98, n. 1, p. 43, doi. 10.1111/cge.13755
By:
- Carmignac, Virginie;
- Nambot, Sophie;
- Lehalle, Daphné;
- Callier, Patrick;
- Moortgat, Stephanie;
- Benoit, Valérie;
- Ghoumid, Jamal;
- Delobel, Bruno;
- Smol, Thomas;
- Thuillier, Caroline;
- Zordan, Cécile;
- Naudion, Sophie;
- Bienvenu, Thierry;
- Touraine, Renaud;
- Ramond, Francis;
- Zweier, Christiane;
- Reis, André;
- Kraus, Cornelia;
- Nizon, Mathilde;
- Cogné, Benjamin
Publication type:
Article
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 851, doi. 10.1007/s10875-020-00808-4
By:
- Saettini, Francesco;
- Herriot, Richard;
- Prada, Elisabetta;
- Nizon, Mathilde;
- Zama, Daniele;
- Marzollo, Antonio;
- Romaniouk, Igor;
- Lougaris, Vassilios;
- Cortesi, Manuela;
- Morreale, Alessia;
- Kosaki, Rika;
- Cardinale, Fabio;
- Ricci, Silvia;
- Domínguez-Garrido, Elena;
- Montin, Davide;
- Vincent, Marie;
- Milani, Donatella;
- Biondi, Andrea;
- Gervasini, Cristina;
- Badolato, Raffaele
Publication type:
Article
First French study relative to preconception genetic testing: 1500 general population participants' opinion.
Published in:
2021
By:
- Bonneau, Valérie;
- Nizon, Mathilde;
- Latypova, Xenia;
- Gaultier, Aurélie;
- Hoarau, Eugénie;
- Bézieau, Stéphane;
- Minguet, Guy;
- Turrini, Mauro;
- Jourdain, Maud;
- Isidor, Bertrand
Publication type:
journal article
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 6, p. 746, doi. 10.1002/pd.6382
By:
- Nguyen, Toan;
- Heide, Solveig;
- Guilbaud, Lucie;
- Valence, Stéphanie;
- Perre, Saskia Vande;
- Blondiaux, Eléonore;
- Keren, Boris;
- Quenum‐Miraillet, Geneviève;
- Jouannic, Jean‐Marie;
- Mandelbrot, Laurent;
- Picone, Olivier;
- Guet, Agnès;
- Tsatsaris, Vassilis;
- Milh, Mathieu;
- Girard, Nadine;
- Vincent, Marie;
- Nizon, Mathilde;
- Poirsier, Céline;
- Vivanti, Alexandre;
- Benachi, Alexandra
Publication type:
Article
Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder.
Published in:
Human Mutation, 2021, v. 42, n. 5, p. 498, doi. 10.1002/humu.24188
By:
- Ghesh, Leïla;
- Besnard, Thomas;
- Nizon, Mathilde;
- Trochu, Eva;
- Landeau‐Trottier, Gaëlle;
- Breheret, Flora;
- Thauvin‐Robinet, Christel;
- Bruel, Ange‐Line;
- Kuentz, Paul;
- Coubes, Christine;
- Cuisset, Laurence;
- Mignot, Cyril;
- Keren, Boris;
- Bézieau, Stéphane;
- Cogné, Benjamin
Publication type:
Article
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Published in:
Human Mutation, 2012, v. 33, n. 8, p. 1261, doi. 10.1002/humu.22104
By:
- Nizon, Mathilde;
- Huber, Céline;
- De Leonardis, Fabio;
- Merrina, Rodolphe;
- Forlino, Antonella;
- Fradin, Mélanie;
- Tuysuz, Beyhan;
- Abu-Libdeh, Bassam Y.;
- Alanay, Yasemin;
- Albrecht, Beate;
- Al-Gazali, Lihadh;
- Basaran, Sarenur Yilmaz;
- Clayton-Smith, Jill;
- Désir, Julie;
- Gill, Harinder;
- Greally, Marie T.;
- Koparir, Erkan;
- van Maarle, Merel C;
- MacKay, Sara;
- Mortier, Geert
Publication type:
Article
Response to a letter to the editor.
Published in:
Neurogenetics, 2023, v. 24, n. 3, p. 219, doi. 10.1007/s10048-023-00721-z
By:
- Jury, Jeanne;
- Nizon, Mathilde;
- Cogné, Benjamin;
- Isidor, Bertrand
Publication type:
Article
Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16103-0
By:
- Gaub, Aline;
- Sheikh, Bilal N.;
- Basilicata, M. Felicia;
- Vincent, Marie;
- Nizon, Mathilde;
- Colson, Cindy;
- Bird, Matthew J.;
- Bradner, James E.;
- Thevenon, Julien;
- Boutros, Michael;
- Akhtar, Asifa
Publication type:
Article

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