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Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.
Slaba K, Pokorna P, Jugas R, Palova H, Prochazkova D, Aulicka S, Spanelova K, Danhofer P, Horak O, Tuckova J, Kleiblova P, Gaillyova R, Hrunka M, Jouza M, Pinkova B, Papez J, Konecna P, Zidkova J, Stourac P, Sterba J, Demlova R, Demlova E, Jabandziev P, Slaby O. Slaba K, et al. Sci Rep. 2024 Nov 20;14(1):28780. doi: 10.1038/s41598-024-79872-4. Sci Rep. 2024. PMID: 39567597 Free PMC article.
A tagging polymorphism in fat mass and obesity-associated (FTO) gene is associated with sepsis status in children.
Jabandziev P, Hubacek JA, Michalek J, Jouza M, Papez J, Pecl J, Slaba K, Slaby O, Urik M, Aulicka S, Kunovsky L, Michalek J, Dominik P, Kratochvil M, Klucka J, Stourac P. Jabandziev P, et al. Among authors: slaba k. Rom J Intern Med. 2024 Mar 12;62(3):279-285. doi: 10.2478/rjim-2024-0008. Print 2024 Sep 1. Rom J Intern Med. 2024. PMID: 38470396 Free article.
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.
Bastard P, Gervais A, Taniguchi M, Saare L, Särekannu K, Le Voyer T, Philippot Q, Rosain J, Bizien L, Asano T, Garcia-Prat M, Parra-Martínez A, Migaud M, Tsumura M, Conti F, Belot A, Rivière JG, Morio T, Tanaka J, Javouhey E, Haerynck F, Duvlis S, Ozcelik T, Keles S, Tandjaoui-Lambiotte Y, Escoda S, Husain M, Pan-Hammarström Q, Hammarström L, Ahlijah G, Abi Haidar A, Soudee C, Arseguel V, Abolhassani H, Sahanic S, Tancevski I, Nukui Y, Hayakawa S, Chrousos GP, Michos A, Tatsi EB, Filippatos F, Rodriguez-Palmero A, Troya J, Tipu I, Meyts I, Roussel L, Ostrowski SR, Schidlowski L, Prando C, Condino-Neto A, Cheikh N, Bousfiha AA, El Bakkouri J; COVID Clinicians; GEN-COVID Study Group; COVID Human Genetic Effort; Peterson P, Pujol A, Lévy R, Quartier P, Vinh DC, Boisson B, Béziat V, Zhang SY, Borghesi A, Pession A, Andreakos E, Marr N, Mentis AA, Mogensen TH, Rodríguez-Gallego C, Soler-Palacin P, Colobran R, Tillmann V, Neven B, Trouillet-Assant S, Brodin P, Abel L, Jouanguy E, Zhang Q, Martinón-Torres F, Salas A, Gómez-Carballa A, Gonzalez-Granado LI, Kisand K, Okada S, Puel A, Cobat A, Casanova JL. Bastard P, et al. J Exp Med. 2024 Feb 5;221(2):e20231353. doi: 10.1084/jem.20231353. Epub 2024 Jan 4. J Exp Med. 2024. PMID: 38175961 Free PMC article.
COVID-19-Associated Paediatric Inflammatory Multisystem Syndrome (PIMS-TS) in Intensive Care: A Retrospective Cohort Trial (PIMS-TS INT).
Musilová T, Jonáš J, Gombala T, David J, Fencl F, Klabusayová E, Klučka J, Kratochvíl M, Havránková P, Vrtková A, Slabá K, Tučková J, Homola L, Štourač P, Vymazal T. Musilová T, et al. Among authors: slaba k. Children (Basel). 2023 Feb 10;10(2):348. doi: 10.3390/children10020348. Children (Basel). 2023. PMID: 36832477 Free PMC article.
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Elmas Bozdemir S, Bayhan GI, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna JM, Jaffré F, Hoffmann HH, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias AA, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus AL, Rosain J, Peel J, Chan YH, Morin MP, Pino-Ramirez RM, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego ML, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss SR, Bonnet D, Duval X; CoV-Contact Cohort§; COVID Human Genetic Effort¶; Pan-Hammarström Q, Planas AM, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard CL, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, Perez de Diego R, Rodriguez-Gallego C, Su HC, Lifton RP, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice CM, Silverman RH, Zhang SY, Casanova JL. Lee D, et al. Science. 2023 Feb 10;379(6632):eabo3627. doi: 10.1126/science.abo3627. Epub 2023 Feb 10. Science. 2023. PMID: 36538032 Free PMC article.
Nationwide observational study of paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) in the Czech Republic.
David J, Stara V, Hradsky O, Tuckova J, Slaba K, Jabandziev P, Sasek L, Huml M, Zidkova I, Pavlicek J, Palatova A, Klaskova E, Banszka K, Terifajova E, Vyhnanek R, Bloomfield M, Fingerhutova S, Dolezalova P, Prochazkova L, Chramostova G, Fencl F, Lebl J. David J, et al. Among authors: slaba k. Eur J Pediatr. 2022 Oct;181(10):3663-3672. doi: 10.1007/s00431-022-04593-7. Epub 2022 Aug 20. Eur J Pediatr. 2022. PMID: 35987943 Free PMC article.
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L, Marchal A, Abolhassani H, Delafontaine S, Bucciol G; COVID Human Genetic Effort; Bayhan GI, Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T, Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS, Dalgard CL, Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarström L, Pan-Hammarström Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S, Abel L, Rice CM, Zhang SY, Cobat A, Casanova JL. Zhang Q, et al. J Exp Med. 2022 Aug 1;219(8):e20220131. doi: 10.1084/jem.20220131. Epub 2022 Jun 16. J Exp Med. 2022. PMID: 35708626 Free PMC article.
Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report.
Papez J, Starha J, Slaba K, Hubacek JA, Pecl J, Aulicka S, Urik M, Ceylaner S, Vesela P, Slaby O, Jabandziev P. Papez J, et al. Among authors: slaba k. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2021 Nov;165(4):454-457. doi: 10.5507/bp.2021.027. Epub 2021 May 18. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2021. PMID: 34012148 Free article.
33 results