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Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
Published in:
2016
By:
- Cohen, Enzo;
- Maghnie, Mohamad;
- Collot, Nathalie;
- Leger, Juliane;
- Dastot, Florence;
- Polak, Michel;
- Rose, Sophie;
- Touraine, Philippe;
- Duquesnoy, Philippe;
- Tauber, Maïté;
- Copin, Bruno;
- Bertrand, Anne-Marie;
- Brioude, Frederic;
- Larizza, Daniela;
- Edouard, Thomas;
- González Briceño, Laura;
- Netchine, Irène;
- Oliver-Petit, Isabelle;
- Sobrier, Marie-Laure;
- Amselem, Serge
Publication type:
journal article
Involvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders.
Published in:
PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069757
By:
- Jéru, Isabelle;
- Charmion, Serge;
- Cochet, Emmanuelle;
- Copin, Bruno;
- Duquesnoy, Philippe;
- Garcia, Maria Teresa Mitjavila;
- Le Borgne, Gaëlle;
- Cathebras, Pascal;
- Gaillat, Jacques;
- Karabina, Sonia;
- Dodé, Catherine;
- Lohse, Peter;
- Hentgen, Véronique;
- Amselem, Serge
Publication type:
Article
Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.
Published in:
Rheumatology, 2023, v. 62, n. 1, p. 473, doi. 10.1093/rheumatology/keac274
By:
- Assrawi, Eman;
- Louvrier, Camille;
- Khouri, Elma El;
- Delaleu, Jérémie;
- Copin, Bruno;
- Moal, Florence Dastot-Le;
- Piterboth, William;
- Legendre, Marie;
- Karabina, Sonia A;
- Grateau, Gilles;
- Amselem, Serge;
- Giurgea, Irina
Publication type:
Article
The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event.
Published in:
ACR Open Rheumatology, 2019, v. 1, n. 4, p. 267, doi. 10.1002/acr2.1039
By:
- Awad, Fawaz;
- Assrawi, Eman;
- Jumeau, Claire;
- Odent, Sylvie;
- Despert, Veronique;
- Cam, Gérard;
- Perdriger, Aleth;
- Louvrier, Camille;
- Cobret, Laetitia;
- Copin, Bruno;
- Chantot‐Bastaraud, Sandra;
- Duquesnoy, Philippe;
- Piterboth, William;
- Le Jeunne, Claire;
- Quenum‐Miraillet, Genevieve;
- Siffroi, Jean Pierre;
- Georgin‐Lavialle, Sophie;
- Grateau, Gilles;
- Legendre, Marie;
- Giurgea, Irina
Publication type:
Article
A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.
Published in:
eLife, 2023, p. 1, doi. 10.7554/eLife.81280
By:
- Khouri, Elma El;
- Diab, Farah;
- Louvrier, Camille;
- Assrawi, Eman;
- Daskalopoulou, Aphrodite;
- Nguyen, Alexandre;
- Piterboth, William;
- Deshayes, Samuel;
- Desdoits, Alexandra;
- Copin, Bruno;
- Le Moal, Florence Dastot;
- Karabina, Sonia Athina;
- Amselem, Serge;
- Aouba, Achille;
- Giurgea, Irina
Publication type:
Article
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 8, p. 1457, doi. 10.1093/hmg/ddw014
By:
- Nathan, Nadia;
- Giraud, Violaine;
- Picard, Clément;
- Nunes, Hilario;
- Moal, Florence Dastot-Le;
- Copin, Bruno;
- Galeron, Laurie;
- De Ligniville, Alice;
- Kuziner, Nathalie;
- Reynaud-Gaubert, Martine;
- Valeyre, Dominique;
- Couderc, Louis-Jean;
- Chinet, Thierry;
- Borie, Raphaël;
- Crestani, Bruno;
- Simansour, Maud;
- Nau, Valérie;
- Tissier, Sylvie;
- Duquesnoy, Philippe;
- Mansour-Hendili, Lamisse
Publication type:
Article
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 3, p. 472, doi. 10.1093/hmg/ddv486
By:
- Sobrier, Marie-Laure;
- Yu-Cheng Tsai;
- Pérez, Christelle;
- Leheup, Bruno;
- Bouceba, Tahar;
- Duquesnoy, Philippe;
- Copin, Bruno;
- Sizova, Daria;
- Penzo, Alfredo;
- Stanger, Ben Z.;
- Cooke, Nancy E.;
- Liebhaber, Stephen A.;
- Amselem, Serge
Publication type:
Article
Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders.
Published in:
Arthritis & Rheumatology, 2014, v. 66, n. 9, p. 2621, doi. 10.1002/art.38727
By:
- Jéru, Isabelle;
- Cochet, Emmanuelle;
- Duquesnoy, Philippe;
- Hentgen, Véronique;
- Copin, Bruno;
- Mitjavila‐Garcia, Maria Teresa;
- Sheykholeslami, Shayan;
- Le Borgne, Gaëlle;
- Dastot‐Le Moal, Florence;
- Malan, Valérie;
- Karabina, Sonia;
- Mahevas, Mathieu;
- Chantot‐Bastaraud, Sandra;
- Lecron, Jean‐Claude;
- Faivre, Laurence;
- Amselem, Serge
Publication type:
Article
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 115, doi. 10.1002/humu.23905
By:
- Mani, Rahma;
- Belkacem, Sabrina;
- Soua, Zohra;
- Chantot, Sandra;
- Montantin, Guy;
- Tissier, Sylvie;
- Copin, Bruno;
- Bouguila, Jihene;
- Rive Le Gouard, Nicolas;
- Boughamoura, Lamia;
- Ben Ameur, Salma;
- Hachicha, Mongia;
- Boussoffara, Raoudha;
- Boussetta, Khadija;
- Hammouda, Samia;
- Bedoui, Abir;
- Besbes, Habib;
- Meddeb, Seif;
- Chraeit, Karima;
- Khlifa, Monia
Publication type:
Article
Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 776, doi. 10.1002/humu.23005
By:
- Jeanson, Ludovic;
- Thomas, Lucie;
- Copin, Bruno;
- Coste, André;
- Sermet‐Gaudelus, Isabelle;
- Dastot‐Le Moal, Florence;
- Duquesnoy, Philippe;
- Montantin, Guy;
- Collot, Nathalie;
- Tissier, Sylvie;
- Papon, Jean‐François;
- Clement, Annick;
- Louis, Bruno;
- Escudier, Estelle;
- Amselem, Serge;
- Legendre, Marie
Publication type:
Article
Germline RUNX1 variants in paediatric patients in a French specialised centre.
Published in:
EJHaem, 2023, v. 4, n. 1, p. 145, doi. 10.1002/jha2.594
By:
- Liu, Cécile;
- Ballerini, Paola;
- Nguyen, Guillaume;
- Mincheva, Zoia;
- Copin, Bruno;
- Bouslama, Boutheina;
- Leverger, Guy;
- Petit, Arnaud;
- Favier, Rémi;
- Lapillonne, Hélène;
- Boutroux, Hélène
Publication type:
Article
De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder.
Published in:
Arthritis & Rheumatology, 2023, v. 75, n. 3, p. 468, doi. 10.1002/art.42354
By:
- Louvrier, Camille;
- El Khouri, Elma;
- Grall Lerosey, Martine;
- Quartier, Pierre;
- Guerrot, Anne‐Marie;
- Bader Meunier, Brigitte;
- Chican, Julie;
- Mohammad, Malaïka;
- Assrawi, Eman;
- Daskalopoulou, Aphrodite;
- Arenas Garcia, Angela;
- Copin, Bruno;
- Piterboth, William;
- Dastot Le Moal, Florence;
- Karabina, Sonia A.;
- Amselem, Serge;
- Giurgea, Irina
Publication type:
Article
Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 12, p. 2091, doi. 10.1093/hmg/6.12.2091
By:
- Adam, Marie F.;
- Belmouden, Ahmed;
- Binisti, Philippe;
- Brézin, Antoine P.;
- Valtot, Françoise;
- Béchetoille, Alain;
- Dascotte, Jean-Claude;
- Copin, Bruno;
- Gomez, Lucienne;
- Chaventré, André;
- Bach, Jean-François;
- Garchon, Henri-Jean
Publication type:
Article

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