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Fièvre Méditerranéenne Familiale : nouveaux phénotypes et mécanismes génétiques
Martin Broly, Guilaine Boursier, Isabelle Touitou
BULL ACAD NATL MED - 2024
2024 Voir une autre année ?
Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.
Rezaei M, Liang M, Yalcin Z, Martin JH, Kazemi P, Bareke E, Ge ZJ, Fardaei M, Benadiva C, Hemida R, Hassan A, Maher GJ, Abdalla E, Buckett W, Bolze PA, Sandhu I, Duman O, Agrawal S, Qian J, Vallian Broojeni J, Bhati L, Miron P, Allias F, Selim A, Fisher RA, Seckl MJ, Sauthier P, Touitou I, Tan SL, Majewski J, Taketo T, Slim R.
J Clin Invest, 2024 Nov 15. doi: 10.1172/JCI170669. Epub 2024 Nov 15.
PubMed
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 Nov. 45(11):696-702. 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
PMID : 37981528
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PubMed