Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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
2021 23
2022 17
2023 12
2024 6

Text availability

Article attribute

Article type

Publication date

Search Results

179 results

Results by year

Filters applied: . Clear all
Page 1
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J, Rowin EJ, Chan RH, Chin MT, Puchnerova V, Polakova E, Macek M Jr, Votypka P, Batorsky R, Perera G, Koethe B, Veselka J, Maron BJ, Maron MS. Bonaventura J, et al. Among authors: macek m jr. J Am Heart Assoc. 2024 May 21;13(10):e033565. doi: 10.1161/JAHA.123.033565. Epub 2024 May 17. J Am Heart Assoc. 2024. PMID: 38757491 Free article.
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.
179 results