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Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis.
Chen CCL, Deshmukh S, Jessa S, Hadjadj D, Lisi V, Andrade AF, Faury D, Jawhar W, Dali R, Suzuki H, Pathania M, A D, Dubois F, Woodward E, Hébert S, Coutelier M, Karamchandani J, Albrecht S, Brandner S, De Jay N, Gayden T, Bajic A, Harutyunyan AS, Marchione DM, Mikael LG, Juretic N, Zeinieh M, Russo C, Maestro N, Bassenden AV, Hauser P, Virga J, Bognar L, Klekner A, Zapotocky M, Vicha A, Krskova L, Vanova K, Zamecnik J, Sumerauer D, Ekert PG, Ziegler DS, Ellezam B, Filbin MG, Blanchette M, Hansford JR, Khuong-Quang DA, Berghuis AM, Weil AG, Garcia BA, Garzia L, Mack SC, Beroukhim R, Ligon KL, Taylor MD, Bandopadhayay P, Kramm C, Pfister SM, Korshunov A, Sturm D, Jones DTW, Salomoni P, Kleinman CL, Jabado N. Chen CCL, et al. Among authors: berghuis am. Cell. 2020 Dec 10;183(6):1617-1633.e22. doi: 10.1016/j.cell.2020.11.012. Epub 2020 Nov 30. Cell. 2020. PMID: 33259802 Free PMC article.
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.
Rivera B, Gayden T, Carrot-Zhang J, Nadaf J, Boshari T, Faury D, Zeinieh M, Blanc R, Burk DL, Fahiminiya S, Bareke E, Schüller U, Monoranu CM, Sträter R, Kerl K, Niederstadt T, Kurlemann G, Ellezam B, Michalak Z, Thom M, Lockhart PJ, Leventer RJ, Ohm M, MacGregor D, Jones D, Karamchandani J, Greenwood CM, Berghuis AM, Bens S, Siebert R, Zakrzewska M, Liberski PP, Zakrzewski K, Sisodiya SM, Paulus W, Albrecht S, Hasselblatt M, Jabado N, Foulkes WD, Majewski J. Rivera B, et al. Among authors: berghuis am. Acta Neuropathol. 2016 Jun;131(6):847-63. doi: 10.1007/s00401-016-1549-x. Epub 2016 Feb 26. Acta Neuropathol. 2016. PMID: 26920151 Free PMC article.
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC, Gayden T, Bajic A, Harraz OF, Pratt J, Nikbakht H, Bareke E, Diniz MG, Castro WH, St-Onge P, Sinnett D, Han H, Rivera B, Mikael LG, De Jay N, Kleinman CL, Valera ET, Bassenden AV, Berghuis AM, Majewski J, Nelson MT, Gomez RS, Jabado N. Gomes CC, et al. Among authors: berghuis am. Nat Commun. 2018 Nov 1;9(1):4572. doi: 10.1038/s41467-018-06690-4. Nat Commun. 2018. PMID: 30385747 Free PMC article.
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N. Cheung YH, et al. Among authors: berghuis am. Am J Hum Genet. 2013 Jun 6;92(6):996-1000. doi: 10.1016/j.ajhg.2013.04.026. Epub 2013 May 23. Am J Hum Genet. 2013. PMID: 23731537 Free PMC article.
Structural basis for plazomicin antibiotic action and resistance.
Golkar T, Bassenden AV, Maiti K, Arya DP, Schmeing TM, Berghuis AM. Golkar T, et al. Among authors: berghuis am. Commun Biol. 2021 Jun 11;4(1):729. doi: 10.1038/s42003-021-02261-4. Commun Biol. 2021. PMID: 34117352 Free PMC article.
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD. Rivera B, et al. J Clin Invest. 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206. J Clin Invest. 2020. PMID: 31805011 Free PMC article. Clinical Trial.
131 results