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Page 1
Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.
Southern KW, Castellani C, Lammertyn E, Smyth A, VanDevanter D, van Koningsbruggen-Rietschel S, Barben J, Bevan A, Brokaar E, Collins S, Connett GJ, Daniels TWV, Davies J, Declercq D, Gartner S, Gramegna A, Hamilton N, Hauser J, Kashirskaya N, Kessler L, Lowdon J, Makukh H, Martin C, Morrison L, Nazareth D, Noordhoek J, O'Neill C, Owen E, Oxley H, Raraigh KS, Raynal C, Robinson K, Roehmel J, Schwarz C, Sermet I, Shteinberg M, Sinha I, Takawira C, van Mourik P, Verkleij M, Waller MD, Duff A. Southern KW, et al. Among authors: makukh h. J Cyst Fibros. 2023 Jan;22(1):17-30. doi: 10.1016/j.jcf.2022.10.002. Epub 2022 Oct 28. J Cyst Fibros. 2023. PMID: 36916675 Free article.
TREC/KREC levels in children with ataxia-telangiectasia.
Boyarchuk O, Makukh H, Kostyuchenko L, Yarema N, Haiboniuk I, Kravets V, Shulhai O, Tretyak B. Boyarchuk O, et al. Among authors: makukh h. Immunol Res. 2021 Oct;69(5):436-444. doi: 10.1007/s12026-021-09216-1. Epub 2021 Aug 24. Immunol Res. 2021. PMID: 34427868
SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women.
Bondarenko M, Haiboniuk I, Solovei I, Shargorodska Y, Makukh H. Bondarenko M, et al. Among authors: makukh h. Balkan J Med Genet. 2023 May 2;25(2):83-90. doi: 10.2478/bjmg-2022-0018. eCollection 2023 May. Balkan J Med Genet. 2023. PMID: 37265969 Free PMC article.
Correction to: Origins, admixture and founder lineages in European Roma.
Martínez-Cruz B, Mendizabal I, Harmant C, de Pablo R, Ioana M, Angelicheva D, Kouvatsi A, Makukh H, Netea MG, Pamjav H, Zalán A, Tournev I, Marushiakova E, Popov V, Bertranpetit J, Kalaydjieva L, Quintana-Murci L, Comas D; Genographic Consortium. Martínez-Cruz B, et al. Among authors: makukh h. Eur J Hum Genet. 2022 Apr;30(4):490. doi: 10.1038/s41431-021-01020-7. Eur J Hum Genet. 2022. PMID: 34952928 Free PMC article. No abstract available.
Sex-biased patterns shaped the genetic history of Roma.
García-Fernández C, Font-Porterias N, Kučinskas V, Sukarova-Stefanovska E, Pamjav H, Makukh H, Dobon B, Bertranpetit J, Netea MG, Calafell F, Comas D. García-Fernández C, et al. Among authors: makukh h. Sci Rep. 2020 Sep 2;10(1):14464. doi: 10.1038/s41598-020-71066-y. Sci Rep. 2020. PMID: 32879340 Free PMC article.
New clinical diagnostic procedures for cystic fibrosis in Europe.
De Boeck K, Derichs N, Fajac I, de Jonge HR, Bronsveld I, Sermet I, Vermeulen F, Sheppard DN, Cuppens H, Hug M, Melotti P, Middleton PG, Wilschanski M; ECFS Diagnostic Network Working Group; EuroCareCF WP3 Group on CF diagnosis. De Boeck K, et al. J Cyst Fibros. 2011 Jun;10 Suppl 2:S53-66. doi: 10.1016/S1569-1993(11)60009-X. J Cyst Fibros. 2011. PMID: 21658643 Free article. Review.
Origins, admixture and founder lineages in European Roma.
Martínez-Cruz B, Mendizabal I, Harmant C, de Pablo R, Ioana M, Angelicheva D, Kouvatsi A, Makukh H, Netea MG, Pamjav H, Zalán A, Tournev I, Marushiakova E, Popov V, Bertranpetit J, Kalaydjieva L, Quintana-Murci L, Comas D. Martínez-Cruz B, et al. Among authors: makukh h. Eur J Hum Genet. 2016 Jun;24(6):937-43. doi: 10.1038/ejhg.2015.201. Epub 2015 Sep 16. Eur J Hum Genet. 2016. PMID: 26374132 Free PMC article.
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
Munck A, Berger DO, Southern KW, Carducci C, de Winter-de Groot KM, Gartner S, Kashirskaya N, Linnane B, Proesmans M, Sands D, Sommerburg O, Castellani C, Barben J; European CF Society Neonatal Screening Working Group (ECFS NSWG). Munck A, et al. J Cyst Fibros. 2023 May;22(3):484-495. doi: 10.1016/j.jcf.2022.09.012. Epub 2022 Nov 10. J Cyst Fibros. 2023. PMID: 36372700
34 results