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201 results

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Page 1
A New Severe Congenital Neutropenia Syndrome Associated with Autosomal Recessive COPZ1 Mutations.
Borbaran Bravo N, Deordieva E, Doll L, ElGamacy M, Dannenmann B, Azevedo J, Iannuzzo A, Delafontaine S, Lehners M, Kolodziej MST, Hernandez Alvarez B, Hellmuth AS, Ritter M, Findik B, Zakharova V, Bräuning S, Kandabarau S, Lengerke C, Feil R, Meyts I, Delon J, Templin MF, Sturm M, Rieß O, Zeidler C, Welte K, Shcherbina A, Klimiankou M, Skokowa J. Borbaran Bravo N, et al. Among authors: shcherbina a. Blood. 2024 Dec 6:blood.2023022576. doi: 10.1182/blood.2023022576. Online ahead of print. Blood. 2024. PMID: 39642330
A randomised, placebo-controlled, phase III trial of leniolisib in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): Adolescent and adult subgroup analysis.
Rao VK, Šedivá A, Dalm VASH, Plebani A, Schuetz C, Shcherbina A, Trizzino A, Zharankova Y, Orpia A, Kulm E, Webster S, Körholz J, Lougaris V, Rodina Y, Conlon N, Coulter T, Bradt J, Relan A, Uzel G. Rao VK, et al. Among authors: shcherbina a. Clin Immunol. 2025 Jan;270:110400. doi: 10.1016/j.clim.2024.110400. Epub 2024 Nov 17. Clin Immunol. 2025. PMID: 39561927 Free article. Clinical Trial.
Decreased TREC and KREC levels in newborns with trisomy 21.
Marakhonov A, Mukhina A, Vlasova E, Efimova I, Balinova N, Rodina Y, Pershin D, Markova Z, Minzhenkova M, Shilova N, Mudaeva D, Saydaeva D, Irbaieva T, Matulevich S, Belyashova E, Yakubovskiy G, Tebieva I, Gabisova Y, Ikaev M, Irinina N, Nurgalieva L, Saifullina E, Belyaeva T, Romanova O, Voronin S, Zinchenko R, Shcherbina A, Kutsev S. Marakhonov A, et al. Among authors: shcherbina a. Front Pediatr. 2024 Oct 17;12:1468635. doi: 10.3389/fped.2024.1468635. eCollection 2024. Front Pediatr. 2024. PMID: 39483532 Free PMC article.
A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC.
Marakhonov A, Serebryakova E, Mukhina A, Vechkasova A, Prokhorov N, Efimova I, Balinova N, Lobenskaya A, Vasilyeva T, Zabnenkova V, Ryzhkova O, Rodina Y, Pershin D, Soloveva N, Fomenko A, Saydaeva D, Ibisheva A, Irbaieva T, Koroteev A, Zinchenko R, Voronin S, Shcherbina A, Kutsev S. Marakhonov A, et al. Among authors: shcherbina a. Int J Mol Sci. 2024 Oct 9;25(19):10844. doi: 10.3390/ijms251910844. Int J Mol Sci. 2024. PMID: 39409174 Free PMC article.
Characterization of Additive Gene-environment Interactions For Colorectal Cancer Risk.
Thomas CE, Lin Y, Kim M, Kawaguchi ES, Qu C, Um CY, Lynch BM, Van Guelpen B, Tsilidis K, Carreras-Torres R, van Duijnhoven FJB, Sakoda LC, Campbell PT, Tian Y, Chang-Claude J, Bézieau S, Budiarto A, Palmer JR, Newcomb PA, Casey G, Le Marchandz L, Giannakis M, Li CI, Gsur A, Newton C, Obón-Santacana M, Moreno V, Vodicka P, Brenner H, Hoffmeister M, Pellatt AJ, Schoen RE, Dimou N, Murphy N, Gunter MJ, Castellví-Bel S, Figueiredo JC, Chan AT, Song M, Li L, Bishop DT, Gruber SB, Baurley JW, Bien SA, Conti DV, Huyghe JR, Kundaje A, Su YR, Wang J, Keku TO, Woods MO, Berndt SI, Chanock SJ, Tangen CM, Wolk A, Burnett-Hartman A, Wu AH, White E, Devall MA, Díez-Obrero V, Drew DA, Giovannucci E, Hidaka A, Kim AE, Lewinger JP, Morrison J, Ose J, Papadimitriou N, Pardamean B, Peoples AR, Ruiz-Narvaez EA, Shcherbina A, Stern MC, Chen X, Thomas DC, Platz EA, Gauderman WJ, Peters U, Hsu L. Thomas CE, et al. Among authors: shcherbina a. Epidemiology. 2025 Jan 1;36(1):126-138. doi: 10.1097/EDE.0000000000001795. Epub 2024 Sep 24. Epidemiology. 2025. PMID: 39316822
The minor allele of the serotonin transporter gene variant rs4251417 is associated with increased resilience in soldiers experiencing acute stress during survival training: preliminary findings.
Petrovick M, Shcherbina A, Farina EK, Thompson LA, Niro PJ, McClung JP, Lieberman HR. Petrovick M, et al. Among authors: shcherbina a. Anxiety Stress Coping. 2024 Aug 21:1-20. doi: 10.1080/10615806.2024.2388850. Online ahead of print. Anxiety Stress Coping. 2024. PMID: 39165169 Free article.
Characterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF Inhibitor.
Yang Z, Tao P, Han X, Kozlova A, He T, Volchkov E, Nesterenko Z, Pershin D, Raykina E, Fatkhudinov T, Korobeynikova A, Aksentijevich I, Yang J, Shcherbina A, Zhou Q, Yu X. Yang Z, et al. Among authors: shcherbina a. Arthritis Rheumatol. 2024 Nov;76(11):1670-1678. doi: 10.1002/art.42948. Epub 2024 Aug 6. Arthritis Rheumatol. 2024. PMID: 38965708
201 results