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Page 1
Genetic testing in children enrolled in epilepsy surgery program. A real-life study.
Straka B, Splitkova B, Vlckova M, Tesner P, Rezacova H, Krskova L, Koblizek M, Kyncl M, Maulisova A, Bukacova K, Uhrova-Meszarosova A, Musilova A, Kudr M, Ebel M, Belohlavkova A, Jahodova A, Liby P, Tichy M, Jezdik P, Zamecnik J, Aronica E, Krsek P. Straka B, et al. Among authors: tesner p. Eur J Paediatr Neurol. 2023 Nov;47:80-87. doi: 10.1016/j.ejpn.2023.09.009. Epub 2023 Oct 5. Eur J Paediatr Neurol. 2023. PMID: 37812946
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Straka B, Hermanovska B, Krskova L, Zamecnik J, Vlckova M, Balascakova M, Tesner P, Jezdik P, Tichy M, Kyncl M, Musilova A, Lassuthova P, Marusic P, Krsek P. Straka B, et al. Among authors: tesner p. Neurol Genet. 2022 Sep 27;8(5):e200032. doi: 10.1212/NXG.0000000000200032. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36324633 Free PMC article.
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.
Muravyev A, Vershinina T, Tesner P, Sjoberg G, Fomicheva Y, Čajbiková NN, Kozyreva A, Zhuk S, Mamaeva E, Tarnovskaya S, Jornholt J, Sokolnikova P, Pervunina T, Vasichkina E, Sejersen T, Kostareva A. Muravyev A, et al. Among authors: tesner p. Orphanet J Rare Dis. 2022 Sep 14;17(1):358. doi: 10.1186/s13023-022-02477-5. Orphanet J Rare Dis. 2022. PMID: 36104822 Free PMC article.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Ogishima … See abstract for full author list ➔ Gargano MA, et al. Among authors: tesner p. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
The guidelines for clinical practice for carriers of germline mutations in the Lynch syndrome predisposition genes MLH1, MSH2, MSH6, PMS2 and large deletions of EPCAM (4.2024).
Novotný J, Cibula D, Curtisová V, Dubová O, Foretová L, Germanová A, Janatová M, Havránek O, Hojsáková M, Hudcová M, Koudová M, Krutílková V, Palacova M, Paulich S, Petrakova K, Presl J, Puchmajerová A, Soukupová J, Šenkeříková M, Šimková Z, Štěpánková H, Šubrt I, Tachecí I, Tesner P, Urban O, Veselá K, Vilímová Š, Vlčková Z, Vočka M, Weinberger V, Zikán M, Zimovjanová M, Kleibl Z, Kleiblová P. Novotný J, et al. Among authors: tesner p. Klin Onkol. 2024;38(5):384-389. doi: 10.48095/ccko2024384. Klin Onkol. 2024. PMID: 39516038 English.
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Nejad-Rashidi A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer MZ, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Maia ER, Mansoor S, Vivek J, Tawde S, Santhosh R Challa V, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, Ei-Awady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Jave… See abstract for full author list ➔ Cali E, et al. Among authors: tesner p. Genet Med. 2024 Sep 10:101251. doi: 10.1016/j.gim.2024.101251. Online ahead of print. Genet Med. 2024. PMID: 39275948 Free article.
The guidelines for clinical practice for carriers of germline mutations in hereditary breast, ovarian, prostate, and pancreatic cancer predisposition genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 (4.2024).
Kleiblová P, Novotný J, Cibula D, Curtisová V, Dubová O, Foretová L, Germanová A, Janatová M, Havránek O, Hojsáková M, Hudcová M, Koudová M, Krutílková V, Palacova M, Paulich S, Petrakova K, Presl J, Puchmajerová A, Soukupová J, Šenkeříková M, Šimková Z, Štěpánková H, Šubrt I, Tachecí I, Tesner P, Urban O, Veselá K, Vilímová Š, Vlčková Z, Vočka M, Weinberger V, Zikán M, Zimovjanová M, Kleibl Z. Kleiblová P, et al. Among authors: tesner p. Klin Onkol. 2024;38(4):292-299. doi: 10.48095/ccko2024292. Klin Onkol. 2024. PMID: 39174333 English.