Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

1,731 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
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.
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.
NOX2 deficiency enhances priming and activation of the NLRP3 inflammasome.
Monjarret B, Shour S, Benyoucef A, Heckel E, Marchitto L, Leiding JW, Cros G, Fernandez I, Joyal JS, Touzot F. Monjarret B, et al. Among authors: fernandez i. J Allergy Clin Immunol. 2023 Oct 5:S0091-6749(23)01242-3. doi: 10.1016/j.jaci.2023.09.030. Online ahead of print. J Allergy Clin Immunol. 2023. PMID: 37805023
Lupus Vulgaris Revealing an IκBα Gain of Function Variant.
Tapiero B, Maari C, Kokta V, Fernandez I, Touzot F. Tapiero B, et al. Among authors: fernandez i. J Clin Immunol. 2023 Apr;43(3):545-547. doi: 10.1007/s10875-022-01421-3. Epub 2022 Dec 17. J Clin Immunol. 2023. PMID: 36527542 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.
1,731 results