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

Year Number of Results
2002 4
2006 1
2007 6
2008 2
2009 3
2010 2
2011 3
2012 4
2013 1
2014 3
2015 2
2016 1
2017 3
2019 1
2020 4
2021 2
2022 3
2023 5
2024 1

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43 results

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Page 1
Haploinsufficiency of NFKBIA reshapes the epigenome antipodal to the IDH mutation and imparts disease fate in diffuse gliomas.
Bredel M, Espinosa L, Kim H, Scholtens DM, McElroy JP, Rajbhandari R, Meng W, Kollmeyer TM, Malta TM, Quezada MA, Harsh GR, Lobo-Jarne T, Solé L, Merati A, Nagaraja S, Nair S, White JJ, Thudi NK, Fleming JL, Webb A, Natsume A, Ogawa S, Weber RG, Bertran J, Haque SJ, Hentschel B, Miller CR, Furnari FB, Chan TA, Grosu AL, Weller M, Barnholtz-Sloan JS, Monje M, Noushmehr H, Jenkins RB, Rogers CL, MacDonald DR, Pugh SL, Chakravarti A. Bredel M, et al. Among authors: weber rg. Cell Rep Med. 2023 Jun 20;4(6):101082. doi: 10.1016/j.xcrm.2023.101082. Cell Rep Med. 2023. PMID: 37343523 Free PMC article.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Assia Batzir N, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Sofrin-Drucker E, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Schlosser P, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, Hrabe de Angelis M, Ćomić J, Akgün Doğan Ö, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Orenstein N, Çalışkan S, Weber RG, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Basel-Salmon L, Borovitz Y, Wu K, Antony D, Matschkal J, Schaaf CW, Renders L, Schmaderer C, Rogg M, Schell C, Meitinger T, Heemann U, Köttgen A, Arnold SJ, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: weber rg. Kidney Int. 2024 Apr;105(4):844-864. doi: 10.1016/j.kint.2023.11.032. Epub 2023 Dec 26. Kidney Int. 2024. PMID: 38154558 Free PMC article.
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
Weber CAM, Krönke N, Volk V, Auber B, Förster A, Trost D, Geffers R, Esmaeilzadeh M, Lalk M, Nabavi A, Samii A, Krauss JK, Feuerhake F, Hartmann C, Wiese B, Brand F, Weber RG. Weber CAM, et al. Among authors: weber rg. Acta Neuropathol Commun. 2023 Nov 21;11(1):184. doi: 10.1186/s40478-023-01689-5. Acta Neuropathol Commun. 2023. PMID: 37990341 Free PMC article.
Rare heterozygous GDF6 variants in patients with renal anomalies.
Martens H, Hennies I, Getwan M, Christians A, Weiss AC, Brand F, Gjerstad AC, Christians A, Gucev Z, Geffers R, Seeman T, Kispert A, Tasic V, Bjerre A, Lienkamp SS, Haffner D, Weber RG. Martens H, et al. Among authors: weber rg. Eur J Hum Genet. 2020 Dec;28(12):1681-1693. doi: 10.1038/s41431-020-0678-9. Epub 2020 Jul 31. Eur J Hum Genet. 2020. PMID: 32737436 Free PMC article.
A phenotype map for 14q32.3 terminal deletions.
Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RC, Rudnik-Schöneborn S, Kreiss-Nachtsheim M, Reutter H. Engels H, et al. Among authors: weber rg. Am J Med Genet A. 2012 Apr;158A(4):695-706. doi: 10.1002/ajmg.a.35256. Epub 2012 Feb 24. Am J Med Genet A. 2012. PMID: 22367666
Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.
Förster A, Brand F, Banan R, Hüneburg R, Weber CAM, Ewert W, Kronenberg J, Previti C, Elyan N, Beyer U, Martens H, Hong B, Bräsen JH, Erbersdobler A, Krauss JK, Stangel M, Samii A, Wolf S, Preller M, Aretz S, Wiese B, Hartmann C, Weber RG. Förster A, et al. Among authors: weber rg. Acta Neuropathol. 2021 Jul;142(1):191-210. doi: 10.1007/s00401-021-02307-1. Epub 2021 Apr 30. Acta Neuropathol. 2021. PMID: 33929593 Free PMC article.
43 results