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

Year Number of Results
2002 2
2003 3
2005 1
2006 4
2007 2
2008 5
2009 7
2010 12
2011 4
2012 7
2013 10
2014 2
2015 3
2016 4
2017 4
2018 4
2019 4
2020 2
2021 4
2022 2
2023 2
2024 2

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82 results

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Page 1
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. Nuzhat N, et al. Among authors: zechner u. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. J Clin Invest. 2023. PMID: 36862503 Free PMC article.
Lipid presentation by the protein C receptor links coagulation with autoimmunity.
Müller-Calleja N, Hollerbach A, Royce J, Ritter S, Pedrosa D, Madhusudhan T, Teifel S, Meineck M, Häuser F, Canisius A, Nguyen TS, Braun J, Bruns K, Etzold A, Zechner U, Strand S, Radsak M, Strand D, Gu JM, Weinmann-Menke J, Esmon CT, Teyton L, Lackner KJ, Ruf W. Müller-Calleja N, et al. Among authors: zechner u. Science. 2021 Mar 12;371(6534):eabc0956. doi: 10.1126/science.abc0956. Science. 2021. PMID: 33707237 Free PMC article.
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
Abdel-Salam GMH, Hellmuth S, Gradhand E, Käseberg S, Winter J, Pabst AS, Eid MM, Thiele H, Nürnberg P, Budde BS, Toliat MR, Brecht IB, Schroeder C, Gschwind A, Ossowski S, Häuser F, Rossmann H, Abdel-Hamid MS, Hegazy I, Mohamed AG, Schneider DT, Bertoli-Avella A, Bauer P, Pearring JN, Pfundt R, Hoischen A, Gilissen C, Strand D, Zechner U, Tashkandi SA, Faqeih EA, Stemmann O, Strand S, Bolz HJ. Abdel-Salam GMH, et al. Among authors: zechner u. JCI Insight. 2023 Nov 22;8(22):e170079. doi: 10.1172/jci.insight.170079. JCI Insight. 2023. PMID: 37796616 Free PMC article.
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ. Preising MN, et al. Among authors: zechner u. FASEB J. 2019 Oct;33(10):11507-11527. doi: 10.1096/fj.201900914RR. Epub 2019 Jul 25. FASEB J. 2019. PMID: 31345061
A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.
Elgaz S, Wittekindt B, Esmaeili A, Fischer S, Bolz HJ, Zechner U, Buxmann H. Elgaz S, et al. Among authors: zechner u. Cold Spring Harb Mol Case Stud. 2022 Oct 28;8(6):a006213. doi: 10.1101/mcs.a006213. Print 2022 Oct. Cold Spring Harb Mol Case Stud. 2022. PMID: 36307213 Free PMC article.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Zhang Y, Tachtsidis G, Schob C, Koko M, Hedrich UBS, Lerche H, Lemke JR, van Haeringen A, Ruivenkamp C, Prescott T, Tveten K, Gerstner T, Pruniski B, DiTroia S, VanNoy GE, Rehm HL, McLaughlin H, Bolz HJ, Zechner U, Bryant E, McDonough T, Kindler S, Bähring R. Zhang Y, et al. Among authors: zechner u. Hum Mol Genet. 2021 Nov 16;30(23):2300-2314. doi: 10.1093/hmg/ddab192. Hum Mol Genet. 2021. PMID: 34245260 Free PMC article.
The FOXP2-Driven Network in Developmental Disorders and Neurodegeneration.
Oswald F, Klöble P, Ruland A, Rosenkranz D, Hinz B, Butter F, Ramljak S, Zechner U, Herlyn H. Oswald F, et al. Among authors: zechner u. Front Cell Neurosci. 2017 Jul 26;11:212. doi: 10.3389/fncel.2017.00212. eCollection 2017. Front Cell Neurosci. 2017. PMID: 28798667 Free PMC article.
NDST1 missense mutations in autosomal recessive intellectual disability.
Reuter MS, Musante L, Hu H, Diederich S, Sticht H, Ekici AB, Uebe S, Wienker TF, Bartsch O, Zechner U, Oppitz C, Keleman K, Jamra RA, Najmabadi H, Schweiger S, Reis A, Kahrizi K. Reuter MS, et al. Among authors: zechner u. Am J Med Genet A. 2014 Nov;164A(11):2753-63. doi: 10.1002/ajmg.a.36723. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25125150
82 results