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Author/Creator Louvrier, Camille

1. A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion. (25th November 2014)

Authors:
Pons, Linda; Cordier, Marie Pierre; Labalme, Audrey; Till, Marianne; Louvrier, Camille; Schluth‐Bolard, Caroline; Lesca, Gaetan; Edery, Patrick; Sanlaville, Damien
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 1(2015:Jan.)
Page Start:
164
Record Type:
Journal Article
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3. De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder. Issue 3 (28th December 2022)

Authors:
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...
Journal:
Arthritis & rheumatology
Issue:
Volume 75:Issue 3(2023)
Page Start:
468
Record Type:
Journal Article
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4. Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome. (28th May 2022)

Authors:
Assrawi, Eman; Louvrier, Camille; El Khouri, Elma; Delaleu, Jérémie; Copin, Bruno; Dastot-Le Moal, Florence; Piterboth, William; Legendre, Marie; Karabina, Sonia A; Grateau, Gilles; Amselem, Serge; Giurgea, Irina
Journal:
Rheumatology
Issue:
Volume 62:Number 1(2023)
Page Start:
473
Record Type:
Journal Article
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5. Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. Issue 7 (2nd February 2018)

Authors:
Louvrier, Camille; Pasmant, Eric; Briand-Suleau, Audrey; Cohen, Joëlle; Nitschké, Patrick; Nectoux, Juliette; Orhant, Lucie; Zordan, Cécile; Goizet, Cyril; Goutagny, Stéphane; Lallemand, Dominique; Vidaud, Michel; Vidaud, Dominique; Kalamarides, Michel; Parfait, Béatrice
Journal:
Neuro-oncology
Issue:
Volume 20:Issue 7(2018)
Page Start:
917
Record Type:
Journal Article
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6. The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event. Issue 4 (6th June 2019)

Authors:
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...
Journal:
ACR open rheumatology
Issue:
Volume 1:Issue 4(2019)
Page Start:
267
Record Type:
Journal Article
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