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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 2
2017 1
2018 5
2019 4
2020 3
2021 7
2022 6
2023 4
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

31 results

Results by year

Filters applied: . Clear all
Page 1
Clinical and functional spectrum of RAC2-related immunodeficiency.
Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Sepännen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP. Donkó Á, et al. Among authors: franco jarava c. Blood. 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. Blood. 2024. PMID: 38194689
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.
Garcia-Prat M, Batlle-Masó L, Parra-Martínez A, Franco-Jarava C, Martinez-Gallo M, Aguiló-Cucurull A, Perurena-Prieto J, Castells N, Urban B, Dieli-Crimi R, Soler-Palacín P, Colobran R. Garcia-Prat M, et al. Among authors: franco jarava c. J Clin Immunol. 2024 Jan 24;44(2):54. doi: 10.1007/s10875-024-01659-z. J Clin Immunol. 2024. PMID: 38265673
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.
Batlle-Masó L, Rivière JG, Franco-Jarava C, Martín-Nalda A, Garcia-Prat M, Parra-Martínez A, Aguiló-Cucurull A, Castells N, Martinez-Gallo M, Soler-Palacín P, Colobran R. Batlle-Masó L, et al. Among authors: franco jarava c. J Clin Immunol. 2023 Nov;43(8):1953-1963. doi: 10.1007/s10875-023-01556-x. Epub 2023 Aug 19. J Clin Immunol. 2023. PMID: 37597073
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies.
Dezfouli M, Bergström S, Skattum L, Abolhassani H, Neiman M, Torabi-Rahvar M, Franco Jarava C, Martin-Nalda A, Ferrer Balaguer JM, Slade CA, Roos A, Fernandez Pereira LM, López-Trascasa M, Gonzalez-Granado LI, Allende-Martinez LM, Mizuno Y, Yoshida Y, Friman V, Lundgren Å, Aghamohammadi A, Rezaei N, Hernández-Gonzalez M, von Döbeln U, Truedsson L, Hara T, Nonoyama S, Schwenk JM, Nilsson P, Hammarström L. Dezfouli M, et al. Among authors: franco jarava c. Front Immunol. 2020 Mar 17;11:455. doi: 10.3389/fimmu.2020.00455. eCollection 2020. Front Immunol. 2020. PMID: 32256498 Free PMC article.
Non-invasive vagus nerve stimulation for rheumatoid arthritis: a proof-of-concept study.
Marsal S, Corominas H, de Agustín JJ, Pérez-García C, López-Lasanta M, Borrell H, Reina D, Sanmartí R, Narváez J, Franco-Jarava C, Peterfy C, Narváez JA, Sharma V, Alataris K, Genovese MC, Baker MC. Marsal S, et al. Among authors: franco jarava c. Lancet Rheumatol. 2021 Apr;3(4):e262-e269. doi: 10.1016/S2665-9913(20)30425-2. Epub 2021 Feb 1. Lancet Rheumatol. 2021. PMID: 38279410
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
Labrador-Horrillo M, Franco-Jarava C, Garcia-Prat M, Parra-Martínez A, Antolín M, Salgado-Perandrés S, Aguiló-Cucurull A, Martinez-Gallo M, Colobran R. Labrador-Horrillo M, et al. Among authors: franco jarava c. Front Immunol. 2022 Apr 8;13:881206. doi: 10.3389/fimmu.2022.881206. eCollection 2022. Front Immunol. 2022. PMID: 35464398 Free PMC article.
Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.
Batlle-Masó L, Garcia-Prat M, Parra-Martínez A, Franco-Jarava C, Aguiló-Cucurull A, Velasco P, Antolín M, Rivière JG, Martín-Nalda A, Soler-Palacín P, Martínez-Gallo M, Colobran R. Batlle-Masó L, et al. Among authors: franco jarava c. Front Immunol. 2022 Nov 18;13:1014984. doi: 10.3389/fimmu.2022.1014984. eCollection 2022. Front Immunol. 2022. PMID: 36466883 Free PMC article.
Extended immunophenotyping reference values in a healthy pediatric population.
Garcia-Prat M, Álvarez-Sierra D, Aguiló-Cucurull A, Salgado-Perandrés S, Briongos-Sebastian S, Franco-Jarava C, Martin-Nalda A, Colobran R, Montserrat I, Hernández-González M, Pujol-Borrell R, Soler-Palacin P, Martínez-Gallo M. Garcia-Prat M, et al. Among authors: franco jarava c. Cytometry B Clin Cytom. 2019 May;96(3):223-233. doi: 10.1002/cyto.b.21728. Epub 2018 Oct 17. Cytometry B Clin Cytom. 2019. PMID: 30334372 Free article.
31 results