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Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.
Casals F, Hodgkinson A, Hussin J, Idaghdour Y, Bruat V, de Maillard T, Grenier JC, Gbeha E, Hamdan FF, Girard S, Spinella JF, Larivière M, Saillour V, Healy J, Fernández I, Sinnett D, Michaud JL, Rouleau GA, Haddad E, Le Deist F, Awadalla P. Casals F, et al. Among authors: fernandez i. PLoS Genet. 2013;9(9):e1003815. doi: 10.1371/journal.pgen.1003815. Epub 2013 Sep 26. PLoS Genet. 2013. PMID: 24086152 Free PMC article.
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B. Samuels ME, et al. Among authors: fernandez i. J Med Genet. 2013 May;50(5):324-9. doi: 10.1136/jmedgenet-2012-101483. Epub 2013 Feb 19. J Med Genet. 2013. PMID: 23423984 Free PMC article.
Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease.
Labrosse R, Abou-Diab J, Blincoe A, Cros G, Luu TM, Deslandres C, Dirks M, Fazilleau L, Ovetchkine P, Teira P, LeDeist F, Fernandez I, Touzot F, Decaluwe H, Halac U, Haddad E. Labrosse R, et al. Among authors: fernandez i. Front Immunol. 2017 Sep 26;8:1167. doi: 10.3389/fimmu.2017.01167. eCollection 2017. Front Immunol. 2017. PMID: 29018441 Free PMC article.
Multicentric Castleman disease revealing complete signal transducer and activator of transcription 1 deficiency treated by JAK1/2 inhibition.
Beaufils C, Fernandez I, Marchitto L, Morin MP, De Bruycker JJ, Cellot S, Soucy JF, Ovetchkine P, Oligny L, Haddad E, Touzot F. Beaufils C, et al. Among authors: fernandez i. J Allergy Clin Immunol Pract. 2021 Oct;9(10):3838-3840.e1. doi: 10.1016/j.jaip.2021.06.031. Epub 2021 Jul 2. J Allergy Clin Immunol Pract. 2021. PMID: 34217848 No abstract available.
A novel variant in caspase recruitment domain family member 11 highlights the variability of clinical manifestations and management in a three generation family.
Cros G, Chapdelaine H, Teira P, Fernandez I, Pastore Y, Haddad E, Touzot F. Cros G, et al. Among authors: fernandez i. J Allergy Clin Immunol Pract. 2023 Oct;11(10):3265-3268. doi: 10.1016/j.jaip.2023.06.041. Epub 2023 Jun 28. J Allergy Clin Immunol Pract. 2023. PMID: 37385446 No abstract available.
1,807 results