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Year Number of Results
2018 4
2019 9
2020 6
2021 2
2022 2
2023 2
2024 1

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Cited In for PMID: 30072435

21 results

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Page 1
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.
Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL. Bolze A, et al. Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2. Proc Natl Acad Sci U S A. 2018. PMID: 30072435 Free PMC article.
Asplenia and spleen hypofunction.
Lenti MV, Luu S, Carsetti R, Osier F, Ogwang R, Nnodu OE, Wiedermann U, Spencer J, Locatelli F, Corazza GR, Di Sabatino A. Lenti MV, et al. Nat Rev Dis Primers. 2022 Nov 3;8(1):71. doi: 10.1038/s41572-022-00399-x. Nat Rev Dis Primers. 2022. PMID: 36329079 Review.
Isolated congenital asplenia: An overlooked cause of thrombocytosis.
Borsani O, Asano T, Boisson B, Fraticelli S, Braschi-Amirfarzan M, Pietra D, Casetti IC, Vanni D, Trotti C, Borghesi A, Casanova JL, Arcaini L, Rumi E. Borsani O, et al. Am J Hematol. 2022 Aug;97(8):1110-1115. doi: 10.1002/ajh.26522. Epub 2022 Mar 17. Am J Hematol. 2022. PMID: 35266186 Free PMC article.
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.
Asano T, Khourieh J, Zhang P, Rapaport F, Spaan AN, Li J, Lei WT, Pelham SJ, Hum D, Chrabieh M, Han JE, Guérin A, Mackie J, Gupta S, Saikia B, Baghdadi JEI, Fadil I, Bousfiha A, Habib T, Marr N, Ganeshanandan L, Peake J, Droney L, Williams A, Celmeli F, Hatipoglu N, Ozcelik T, Picard C, Abel L, Tangye SG, Boisson-Dupuis S, Zhang Q, Puel A, Béziat V, Casanova JL, Boisson B. Asano T, et al. J Exp Med. 2021 Aug 2;218(8):e20202592. doi: 10.1084/jem.20202592. Epub 2021 Jun 17. J Exp Med. 2021. PMID: 34137790 Free PMC article.
21 results