In press
Defects in Meiosis I contribute to the genesis of androgenetic hydatidiform moles
Maryam Rezaei, Manqi Liang, Zeynep Yalcin, Jacinta H. Martin, Parinaz Kazemi, Eric Bareke, Zhao-Jia Ge, Majid Fardaei, Claudio Benadiva, Reda Hemida, Adnan Hassan, Geoffrey J Maher, Ebtesam Abdalla, William Buckett, Pierre-Adrien Bolze, Iqbaljit Sandhu, Onur Duman, Suraksha Agrawal, JianHua Qian, Jalal Vallian Broojeni, Lavi Bhati, Pierre Miron, Fabienne Allias, Amal Selim, Rosemary Fisher, Michael J Seckl, Philippe Sauthier, Isabelle Touitou, Seang Lin Tan, Jacek Majewski, Teruko Taketo, Rima Slim
J CLIN INVEST - 2024
Fièvre Méditerranéenne Familiale : nouveaux phénotypes et mécanismes génétiques
Martin Broly, Guilaine Boursier, Isabelle Touitou
BULL ACAD NATL MED - 2024
Maladies auto-inflammatoires de l’enfant : apport de la génétique
Guilaine Boursier, Isabelle Touitou
REV PRAT - 2023
2024 Voir une autre année ?
Mosaic EGFR exon 20 in-frame insertion pathogenic variants are associated with papular epidermal naevus with 'skyline' basal cell layer (PENS).
Bessis D, Poujade L, Cossée M, Boursier G, Barat-Houari M, Tharreau M, Durand L, Aguilar SC, Solassol J, Willems M, Vendrell J.
Br J Dermatol, 2024 Sep 18. 191(4):641-644. doi: 10.1093/bjd/ljae236.
PubMed
The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.
Ben-Chetrit E, Touitou I.
Clin Genet, 2024 Sep. 106(3):217-223. doi: 10.1111/cge.14566. Epub 2024 May 31.
PubMed
[Genetic mosaicism in Systemic Auto-Inflammatory Diseases: A review of the literature].
Parentelli AS, Boursier G, Cuisset L, Georgin-Lavialle S.
Rev Med Interne, 2024 May 17. pii: S0248-8663(24)00566-6. doi: 10.1016/j.revmed.2024.05.003. Epub 2024 May 17.
PubMed
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.
Cosson C, Riou R, Patoli D, Niu T, Rey A, Groslambert M, De Rosny C, Chatre E, Allatif O, Henry T, Venet F, Milhavet F, Boursier G, Belot A, Jamilloux Y, Merlin E, Duquesne A, Grateau G, Savey L, Jacques Maria AT, Pagnier A, Poutrel S, Lambotte O, Mallebranche C, Ardois S, Richer O, Lemelle I, Rieux-Laucat F, Bader-Meunier B, Amoura Z, Melki I, Cuisset L, Touitou I, Geyer M, Georgin-Lavialle S, Py BF.
J Exp Med, 2024 May 6. doi: 10.1084/jem.20231200. Epub 2024 Mar 26.
PubMed
Pyrin-associated autoinflammatory disease with p.Thr577Ala MEFV somatic mutation.
Terré A, Magnotti F, Piot JM, Boursier G, Georgin-Lavialle S.
Eur J Intern Med, 2024 Feb. doi: 10.1016/j.ejim.2023.11.014. Epub 2023 Nov 18.
PubMed