These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

430 related items for PubMed ID: 21540551

  • 1. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
    Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rötig A, Nürnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Müller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocaña C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F.
    J Clin Invest; 2011 May; 121(5):2013-24. PubMed ID: 21540551
    [Abstract] [Full Text] [Related]

  • 2. Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.
    Yuruk Yildirim Z, Toksoy G, Uyguner O, Nayir A, Yavuz S, Altunoglu U, Turkkan ON, Sevinc B, Gokcay G, Kurkcu Gunes D, Kiyak A, Yilmaz A.
    Eur J Med Genet; 2020 Jan; 63(1):103621. PubMed ID: 30682496
    [Abstract] [Full Text] [Related]

  • 3. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
    Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F.
    J Clin Invest; 2013 Dec; 123(12):5179-89. PubMed ID: 24270420
    [Abstract] [Full Text] [Related]

  • 4. [Coenzyme Q(10) treatment for one child with COQ6 gene mutation induced nephrotic syndrome and literature review].
    Cao Q, Li GM, Xu H, Shen Q, Sun L, Fang XY, Liu HM, Guo W, Zhai YH, Wu BB.
    Zhonghua Er Ke Za Zhi; 2017 Feb 02; 55(2):135-138. PubMed ID: 28173653
    [Abstract] [Full Text] [Related]

  • 5. COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss.
    Park E, Ahn YH, Kang HG, Yoo KH, Won NH, Lee KB, Moon KC, Seong MW, Gwon TR, Park SS, Cheong HI.
    Am J Kidney Dis; 2017 Jul 02; 70(1):139-144. PubMed ID: 28117207
    [Abstract] [Full Text] [Related]

  • 6. WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
    Ramanathan AS, Vijayan M, Rajagopal S, Rajendiran P, Senguttuvan P.
    Mol Cell Biochem; 2017 Feb 02; 426(1-2):177-181. PubMed ID: 27885584
    [Abstract] [Full Text] [Related]

  • 7. Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice.
    Widmeier E, Airik M, Hugo H, Schapiro D, Wedel J, Ghosh CC, Nakayama M, Schneider R, Awad AM, Nag A, Cho J, Schueler M, Clarke CF, Airik R, Hildebrandt F.
    J Am Soc Nephrol; 2019 Mar 02; 30(3):393-405. PubMed ID: 30737270
    [Abstract] [Full Text] [Related]

  • 8. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
    Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA, SRNS Study Group, Hildebrandt F.
    J Am Soc Nephrol; 2015 Jun 02; 26(6):1279-89. PubMed ID: 25349199
    [Abstract] [Full Text] [Related]

  • 9. Defects of CRB2 cause steroid-resistant nephrotic syndrome.
    Ebarasi L, Ashraf S, Bierzynska A, Gee HY, McCarthy HJ, Lovric S, Sadowski CE, Pabst W, Vega-Warner V, Fang H, Koziell A, Simpson MA, Dursun I, Serdaroglu E, Levy S, Saleem MA, Hildebrandt F, Majumdar A.
    Am J Hum Genet; 2015 Jan 08; 96(1):153-61. PubMed ID: 25557779
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11. Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
    Tasic V, Gucev Z, Polenakovic M.
    Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2015 Jan 08; 36(3):5-12. PubMed ID: 27442391
    [Abstract] [Full Text] [Related]

  • 12. Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
    Büscher AK, Beck BB, Melk A, Hoefele J, Kranz B, Bamborschke D, Baig S, Lange-Sperandio B, Jungraithmayr T, Weber LT, Kemper MJ, Tönshoff B, Hoyer PF, Konrad M, Weber S, German Pediatric Nephrology Association (GPN).
    Clin J Am Soc Nephrol; 2016 Feb 05; 11(2):245-53. PubMed ID: 26668027
    [Abstract] [Full Text] [Related]

  • 13. New Mutation of Coenzyme Q10 Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient.
    Song CC, Hong Q, Geng XD, Wang X, Wang SQ, Cui SY, Guo MD, Li O, Cai GY, Chen XM, Wu D.
    Chin Med J (Engl); 2018 Nov 20; 131(22):2666-2675. PubMed ID: 30425193
    [Abstract] [Full Text] [Related]

  • 14. Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
    Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA.
    Kidney Int; 2017 Apr 20; 91(4):937-947. PubMed ID: 28117080
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. COQ6 mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophy.
    Justine Perrin R, Rousset-Rouvière C, Garaix F, Cano A, Conrath J, Boyer O, Tsimaratos M.
    JIMD Rep; 2020 Jul 20; 54(1):37-44. PubMed ID: 32685349
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
    Wang F, Zhang Y, Mao J, Yu Z, Yi Z, Yu L, Sun J, Wei X, Ding F, Zhang H, Xiao H, Yao Y, Tan W, Lovric S, Ding J, Hildebrandt F.
    Pediatr Nephrol; 2017 Jul 20; 32(7):1181-1192. PubMed ID: 28204945
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.
    Doimo M, Trevisson E, Airik R, Bergdoll M, Santos-Ocaña C, Hildebrandt F, Navas P, Pierrel F, Salviati L.
    Biochim Biophys Acta; 2014 Jan 20; 1842(1):1-6. PubMed ID: 24140869
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 22.