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Page 1
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
Grandin V, Sepulveda FE, Lambert N, Al Zahrani M, Al Idrissi E, Al-Mousa H, Almanjomi F, Al-Ghonaium A, K Habazi M, A Alghamdi H, Picard C, Bole-Feysot C, Nitschke P, Ménasché G, de Saint Basile G. Grandin V, et al. Among authors: lambert n. Hum Mutat. 2017 Oct;38(10):1355-1359. doi: 10.1002/humu.23274. Epub 2017 Jun 19. Hum Mutat. 2017. PMID: 28585352
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.
Le Guen T, Touzot F, André-Schmutz I, Lagresle-Peyrou C, France B, Kermasson L, Lambert N, Picard C, Nitschke P, Carpentier W, Bole-Feysot C, Lim A, Cavazzana M, Callebaut I, Soulier J, Jabado N, Fischer A, de Villartay JP, Revy P. Le Guen T, et al. Among authors: lambert n. J Allergy Clin Immunol. 2015 Dec;136(6):1619-1626.e5. doi: 10.1016/j.jaci.2015.06.008. Epub 2015 Jul 26. J Allergy Clin Immunol. 2015. PMID: 26220525
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J, Oleaga-Quintas C, Deswarte C, Verdin H, Marot S, Syridou G, Mansouri M, Mahdaviani SA, Venegas-Montoya E, Tsolia M, Mesdaghi M, Chernyshova L, Stepanovskiy Y, Parvaneh N, Mansouri D, Pedraza-Sánchez S, Bondarenko A, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Nieto-Patlán A, Kerner G, Lambert N, Jacques C, Corvilain E, Migaud M, Grandin V, Herrera MT, Jabot-Hanin F, Boisson-Dupuis S, Picard C, Nitschke P, Puel A, Tores F, Abel L, Blancas-Galicia L, De Baere E, Bole-Feysot C, Casanova JL, Bustamante J. Rosain J, et al. Among authors: lambert n. J Clin Immunol. 2018 Jul;38(5):617-627. doi: 10.1007/s10875-018-0527-6. Epub 2018 Jul 11. J Clin Immunol. 2018. PMID: 29995221 Free PMC article. Review.
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.
El-Daher MT, Lemale J, Bruneau J, Leveau C, Guerin F, Lambert N, Diana JS, Neven B, Sepulveda FE, Coulomb-L'Hermine A, Molina T, Picard C, Fischer A, de Saint Basile G. El-Daher MT, et al. Among authors: lambert n. Front Immunol. 2019 Nov 7;10:2592. doi: 10.3389/fimmu.2019.02592. eCollection 2019. Front Immunol. 2019. PMID: 31787977 Free PMC article.
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, Rieux-Laucat F, Gandemer V, Monnier D, Heijmans C, van Gijn M, Dalm VA, Mahlaoui N, Stephan JL, Picard C, Durandy A, Kracker S, Hivroz C, Jabado N, de Saint Basile G, Fischer A, Cavazzana M, André-Schmutz I. Lagresle-Peyrou C, et al. Among authors: lambert n. J Allergy Clin Immunol. 2016 Dec;138(6):1681-1689.e8. doi: 10.1016/j.jaci.2016.04.032. Epub 2016 Jun 4. J Allergy Clin Immunol. 2016. PMID: 27405666
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, Renaud N, Gil M, Chevalier S, Chahla WA, Bader-Meunier B, Barlogis V, Blanche S, Boutboul D, Castelle M, Comont T, Diana JS, Fieschi C, Galicier L, Hermine O, Lefèvre-Utile A, Malphettes M, Merlin E, Oksenhendler E, Pasquet M, Suarez F, André I, Béziat V, De Saint Basile G, De Villartay JP, Kracker S, Lagresle-Peyrou C, Latour S, Rieux-Laucat F, Mahlaoui N, Bole C, Nitschke P, Hulier-Ammar E, Fischer A, Moshous D, Neven B, Alcais A, Vogt G, Bustamante J, Picard C. Fusaro M, et al. Among authors: lambert n. J Allergy Clin Immunol. 2021 Feb;147(2):734-737. doi: 10.1016/j.jaci.2020.05.046. Epub 2020 Jun 10. J Allergy Clin Immunol. 2021. PMID: 32531373 No abstract available.
Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited.
Allain V, Grandin V, Meignin V, Bertinchamp R, Boutboul D, Fieschi C, Galicier L, Gérard L, Malphettes M, Bustamante J, Fusaro M, Lambert N, Rosain J, Lenoir C, Kracker S, Rieux-Laucat F, Latour S, de Villartay JP, Picard C, Oksenhendler E. Allain V, et al. Among authors: lambert n. J Clin Immunol. 2023 Jan;43(1):181-191. doi: 10.1007/s10875-022-01368-5. Epub 2022 Sep 26. J Clin Immunol. 2023. PMID: 36155879
Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.
Wiszniewski W, Fondaneche MC, Lambert N, Masternak K, Picard C, Notarangelo L, Schwartz K, Bal J, Reith W, Alcaide C, de Saint Basile G, Fischer A, Lisowska-Grospierre B. Wiszniewski W, et al. Among authors: lambert n. Immunogenetics. 2000 Apr;51(4-5):261-7. doi: 10.1007/s002510050619. Immunogenetics. 2000. PMID: 10803838
564 results