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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 1
2004 2
2005 8
2006 5
2007 5
2008 11
2009 13
2010 11
2011 6
2012 8
2013 7
2014 8
2015 6
2016 12
2017 10
2018 12
2019 13
2020 12
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2024 4

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Page 1
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.
Thomasová D, Zelinová M, Libik M, Geryk J, Votýpka P, Rajnochová Bloudíčková S, Krejčí K, Reiterová J, Jančová E, Machová J, Kollárová M, Rychík I, Havrda M, Horáčková M, Putzová M, Šafránek R, Kollár M, Macek M Jr. Thomasová D, et al. Among authors: macek m jr. Front Med (Lausanne). 2023 Dec 19;10:1320054. doi: 10.3389/fmed.2023.1320054. eCollection 2023. Front Med (Lausanne). 2023. PMID: 38170106 Free PMC article.
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M, Ciara E, Slatinská J, Fraňková S, Lišková P, Kotalová R, Globinovská J, Šafaříková M, Pfeiferová L, Zůnová H, Mrázová L, Stránecký V, Vrbacká A, Fabián O, Sticová E, Skanderová D, Šperl J, Kalousová M, Zima T, Macek M, Pawlowska J, Knisely AS, Kmoch S, Jirsa M. Neřoldová M, et al. Among authors: macek m. PLoS One. 2023 Jul 20;18(7):e0288907. doi: 10.1371/journal.pone.0288907. eCollection 2023. PLoS One. 2023. PMID: 37471416 Free PMC article.
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N; O-Rare consortium; Dure-Molla M, Noirrit E, Hernandez M, Joseph-Beaudin C, Lopez S, Tardieu C, Thivichon-Prince B; ERN Cranio Consortium; Dostalova T, Macek M Jr; International Consortium; Alloussi ME, Qebibo L, Morkmued S, Pungchanchaikul P, Orellana BU, Manière MC, Gérard B, Bugueno IM, Laugel-Haushalter V. Bloch-Zupan A, et al. Among authors: macek m jr. Front Physiol. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175. eCollection 2023. Front Physiol. 2023. PMID: 37228816 Free PMC article.
Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia.
Hsu YH, Pintacuda G, Liu R, Nacu E, Kim A, Tsafou K, Petrossian N, Crotty W, Suh JM, Riseman J, Martin JM, Biagini JC, Mena D, Ching JKT, Malolepsza E, Li T, Singh T, Ge T, Egri SB, Tanenbaum B, Stanclift CR, Apffel AM; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Stanley Global Asia Initiatives; Carr SA, Schenone M, Jaffe J, Fornelos N, Huang H, Eggan KC, Lage K. Hsu YH, et al. iScience. 2023 Apr 18;26(5):106701. doi: 10.1016/j.isci.2023.106701. eCollection 2023 May 19. iScience. 2023. PMID: 37207277 Free PMC article.
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.
Votýpka P, Krebsová A, Norambuena-Poustková P, Peldová P, Pohlová Kučerová Š, Kulvajtová M, Dohnalová P, Bílek M, Stufka V, Rücklová K, Grossová I, Wünschová H, Tavačová T, Hašková J, Segeťová M, Štoček J, Gřegořová A, Zoubková V, Petřková J, Dobiáš M, Makuša M, Blanková A, Vajtr D, Řehulka H, Šubrt I, Pilin A, Tomášek P, Janoušek J, Kautzner J, Macek M Jr. Votýpka P, et al. Among authors: macek m jr. Int J Legal Med. 2023 Nov;137(6):1787-1801. doi: 10.1007/s00414-023-03007-z. Epub 2023 May 13. Int J Legal Med. 2023. PMID: 37178278 Free PMC article.
177 results