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Items: 1 to 50 of 58

1.

De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity.

Ladds E, Whitney A, Dombi E, Hofer M, Anand G, Harrison V, Fratter C, Carver J, Barbosa IA, Simpson M, Jayawant S, Poulton J.

Neurol Genet. 2018 Aug 2;4(4):e258. doi: 10.1212/NXG.0000000000000258. eCollection 2018 Aug. No abstract available.

2.

[Wrong communication panels for perinatal loss].

Monostori D, Dombi E, Zelena A.

Orv Hetil. 2018 Jun;159(25):1033-1036. doi: 10.1556/650.2018.31006. Hungarian.

PMID:
29909658
3.

Association of Plexiform Neurofibroma Volume Changes and Development of Clinical Morbidities in Neurofibromatosis 1.

Gross AM, Singh G, Akshintala S, Baldwin A, Dombi E, Ukwuani S, Goodwin A, Liewehr DJ, Steinberg SM, Widemann BC.

Neuro Oncol. 2018 Apr 28. doi: 10.1093/neuonc/noy067. [Epub ahead of print]

PMID:
29718344
4.

The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors.

Higham CS, Dombi E, Rogiers A, Bhaumik S, Pans S, Connor SEJ, Miettinen M, Sciot R, Tirabosco R, Brems H, Baldwin A, Legius E, Widemann BC, Ferner RE.

Neuro Oncol. 2018 May 18;20(6):818-825. doi: 10.1093/neuonc/noy013.

PMID:
29409029
5.

Acute nutritional stress during pregnancy affects placental efficiency, fetal growth and adult glucose homeostasis.

Malik S, Diot A, Morten K, Dombi E, Vatish M, Boyd CAR, Poulton J.

Oncotarget. 2017 Nov 25;8(65):109478-109486. doi: 10.18632/oncotarget.22695. eCollection 2017 Dec 12.

6.

In Vitro and In Vivo Detection of Mitophagy in Human Cells, C. Elegans, and Mice.

Fang EF, Palikaras K, Sun N, Fivenson EM, Spangler RD, Kerr JS, Cordonnier SA, Hou Y, Dombi E, Kassahun H, Tavernarakis N, Poulton J, Nilsen H, Bohr VA.

J Vis Exp. 2017 Nov 22;(129). doi: 10.3791/56301.

PMID:
29286376
7.

Improved delivery of the anticancer agent citral using BSA nanoparticles and polymeric wafers.

White B, Evison A, Dombi E, Townley HE.

Nanotechnol Sci Appl. 2017 Dec 6;10:163-175. doi: 10.2147/NSA.S148068. eCollection 2017.

8.

Outcomes of Children and Adolescents with Advanced Hereditary Medullary Thyroid Carcinoma Treated with Vandetanib.

Kraft IL, Akshintala S, Zhu Y, Lei H, Derse-Anthony C, Dombi E, Steinberg SM, Lodish M, Waguespack SG, Kapustina O, Fox E, Balis FM, Merino MJ, Meltzer PS, Glod JW, Shern JF, Widemann BC.

Clin Cancer Res. 2018 Feb 15;24(4):753-765. doi: 10.1158/1078-0432.CCR-17-2101. Epub 2017 Nov 29.

PMID:
29187393
9.

SARC006: Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated Chemotherapy-Naive Malignant Peripheral Nerve Sheath Tumors.

Higham CS, Steinberg SM, Dombi E, Perry A, Helman LJ, Schuetze SM, Ludwig JA, Staddon A, Milhem MM, Rushing D, Jones RL, Livingston M, Goldman S, Moertel C, Wagner L, Janhofer D, Annunziata CM, Reinke D, Long L, Viskochil D, Baker L, Widemann BC.

Sarcoma. 2017;2017:8685638. doi: 10.1155/2017/8685638. Epub 2017 Sep 12.

10.

Volumetric MRI Analysis of Plexiform Neurofibromas in Neurofibromatosis Type 1: Comparison of Two Methods.

Cai W, Steinberg SM, Bredella MA, Basinsky G, Somarouthu B, Plotkin SR, Solomon J, Widemann BC, Harris GJ, Dombi E.

Acad Radiol. 2018 Feb;25(2):144-152. doi: 10.1016/j.acra.2017.09.004. Epub 2017 Oct 31.

PMID:
29097016
11.

Modulating mitophagy in mitochondrial disease.

Dombi E, Mortiboys H, Poulton J.

Curr Med Chem. 2017 Jun 16. doi: 10.2174/0929867324666170616101741. [Epub ahead of print]

12.

Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas.

Dombi E, Baldwin A, Marcus LJ, Fisher MJ, Weiss B, Kim A, Whitcomb P, Martin S, Aschbacher-Smith LE, Rizvi TA, Wu J, Ershler R, Wolters P, Therrien J, Glod J, Belasco JB, Schorry E, Brofferio A, Starosta AJ, Gillespie A, Doyle AL, Ratner N, Widemann BC.

N Engl J Med. 2016 Dec 29;375(26):2550-2560. doi: 10.1056/NEJMoa1605943.

13.

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley I, Rosser L, Lowndes J, Fratter C, Ferguson DJ, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AK, Votruba M, Poulton J.

Neurology. 2017 Jan 10;88(2):131-142. doi: 10.1212/WNL.0000000000003491. Epub 2016 Dec 14.

14.

Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care.

Avery RA, Katowitz JA, Fisher MJ, Heidary G, Dombi E, Packer RJ, Widemann BC; OPPN Working Group.

Ophthalmology. 2017 Jan;124(1):123-132. doi: 10.1016/j.ophtha.2016.09.020. Epub 2016 Nov 3. Review.

15.

Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children.

Diot A, Dombi E, Lodge T, Liao C, Morten K, Carver J, Wells D, Child T, Johnston IG, Williams S, Poulton J.

Biochem Soc Trans. 2016 Aug 15;44(4):1091-100. doi: 10.1042/BST20160095.

16.

Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis.

Ahlawat S, Fayad LM, Khan MS, Bredella MA, Harris GJ, Evans DG, Farschtschi S, Jacobs MA, Chhabra A, Salamon JM, Wenzel R, Mautner VF, Dombi E, Cai W, Plotkin SR, Blakeley JO; Whole Body MRI Committee for the REiNS International Collaboration; REiNS International Collaboration Members 2016.

Neurology. 2016 Aug 16;87(7 Suppl 1):S31-9. doi: 10.1212/WNL.0000000000002929.

17.

Phase II trial of pegylated interferon alfa-2b in young patients with neurofibromatosis type 1 and unresectable plexiform neurofibromas.

Jakacki RI, Dombi E, Steinberg SM, Goldman S, Kieran MW, Ullrich NJ, Pollack IF, Goodwin A, Manley PE, Fangusaro J, Allen R, Widemann BC.

Neuro Oncol. 2017 Feb 1;19(2):289-297. doi: 10.1093/neuonc/now158.

18.

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

Dombi E, Diot A, Morten K, Carver J, Lodge T, Fratter C, Ng YS, Liao C, Muir R, Blakely EL, Hargreaves I, Al-Dosary M, Sarkar G, Hickman SJ, Downes SM, Jayawant S, Yu-Wai-Man P, Taylor RW, Poulton J.

Neurology. 2016 May 17;86(20):1921-3. doi: 10.1212/WNL.0000000000002688. Epub 2016 Apr 22. No abstract available.

19.

Efficacy and Biomarker Study of Bevacizumab for Hearing Loss Resulting From Neurofibromatosis Type 2-Associated Vestibular Schwannomas.

Blakeley JO, Ye X, Duda DG, Halpin CF, Bergner AL, Muzikansky A, Merker VL, Gerstner ER, Fayad LM, Ahlawat S, Jacobs MA, Jain RK, Zalewski C, Dombi E, Widemann BC, Plotkin SR.

J Clin Oncol. 2016 May 10;34(14):1669-75. doi: 10.1200/JCO.2015.64.3817. Epub 2016 Mar 14.

20.

Insertional Mutagenesis Identifies a STAT3/Arid1b/β-catenin Pathway Driving Neurofibroma Initiation.

Wu J, Keng VW, Patmore DM, Kendall JJ, Patel AV, Jousma E, Jessen WJ, Choi K, Tschida BR, Silverstein KA, Fan D, Schwartz EB, Fuchs JR, Zou Y, Kim MO, Dombi E, Levy DE, Huang G, Cancelas JA, Stemmer-Rachamimov AO, Spinner RJ, Largaespada DA, Ratner N.

Cell Rep. 2016 Mar 1;14(8):1979-90. doi: 10.1016/j.celrep.2016.01.074. Epub 2016 Feb 18.

21.

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.

Diot A, Hinks-Roberts A, Lodge T, Liao C, Dombi E, Morten K, Brady S, Fratter C, Carver J, Muir R, Davis R, Green CJ, Johnston I, Hilton-Jones D, Sue C, Mortiboys H, Poulton J.

Pharmacol Res. 2015 Oct;100:24-35. doi: 10.1016/j.phrs.2015.07.014. Epub 2015 Jul 18.

PMID:
26196248
22.

Runx1 contributes to neurofibromatosis type 1 neurofibroma formation.

Li H, Zhao X, Yan X, Jessen WJ, Kim MO, Dombi E, Liu PP, Huang G, Wu J.

Oncogene. 2016 Mar 17;35(11):1468-74. doi: 10.1038/onc.2015.207. Epub 2015 Jun 15.

23.

Pain interference in youth with neurofibromatosis type 1 and plexiform neurofibromas and relation to disease severity, social-emotional functioning, and quality of life.

Wolters PL, Burns KM, Martin S, Baldwin A, Dombi E, Toledo-Tamula MA, Dudley WN, Gillespie A, Widemann BC.

Am J Med Genet A. 2015 Sep;167A(9):2103-13. doi: 10.1002/ajmg.a.37123. Epub 2015 May 14.

PMID:
25976979
24.

Preclinical assessments of the MEK inhibitor PD-0325901 in a mouse model of Neurofibromatosis type 1.

Jousma E, Rizvi TA, Wu J, Janhofer D, Dombi E, Dunn RS, Kim MO, Masters AR, Jones DR, Cripe TP, Ratner N.

Pediatr Blood Cancer. 2015 Oct;62(10):1709-16. doi: 10.1002/pbc.25546. Epub 2015 Apr 22.

25.

Radiation therapy in management of sporadic and neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.

Kahn J, Gillespie A, Tsokos M, Ondos J, Dombi E, Camphausen K, Widemann BC, Kaushal A.

Front Oncol. 2014 Nov 17;4:324. doi: 10.3389/fonc.2014.00324. eCollection 2014.

26.

Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a neurofibromatosis Clinical Trials Consortium phase II study.

Weiss B, Widemann BC, Wolters P, Dombi E, Vinks A, Cantor A, Perentesis J, Schorry E, Ullrich N, Gutmann DH, Tonsgard J, Viskochil D, Korf B, Packer RJ, Fisher MJ.

Neuro Oncol. 2015 Apr;17(4):596-603. doi: 10.1093/neuonc/nou235. Epub 2014 Oct 14. Erratum in: Neuro Oncol. 2015 Jun;17(6):905.

27.

Characterization of spinal findings in children and adults with neurofibromatosis type 1 enrolled in a natural history study using magnetic resonance imaging.

Nguyen R, Dombi E, Akshintala S, Baldwin A, Widemann BC.

J Neurooncol. 2015 Jan;121(1):209-15. doi: 10.1007/s11060-014-1629-5. Epub 2014 Oct 8.

PMID:
25293439
28.

Sirolimus for non-progressive NF1-associated plexiform neurofibromas: an NF clinical trials consortium phase II study.

Weiss B, Widemann BC, Wolters P, Dombi E, Vinks AA, Cantor A, Korf B, Perentesis J, Gutmann DH, Schorry E, Packer R, Fisher MJ.

Pediatr Blood Cancer. 2014 Jun;61(6):982-6.

PMID:
24851266
29.

Phase II trial of pirfenidone in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas.

Widemann BC, Babovic-Vuksanovic D, Dombi E, Wolters PL, Goldman S, Martin S, Goodwin A, Goodspeed W, Kieran MW, Cohen B, Blaney SM, King A, Solomon J, Patronas N, Balis FM, Fox E, Steinberg SM, Packer RJ.

Pediatr Blood Cancer. 2014 Sep;61(9):1598-602. doi: 10.1002/pbc.25041. Epub 2014 Apr 22.

PMID:
24753394
30.

Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas.

Widemann BC, Dombi E, Gillespie A, Wolters PL, Belasco J, Goldman S, Korf BR, Solomon J, Martin S, Salzer W, Fox E, Patronas N, Kieran MW, Perentesis JP, Reddy A, Wright JJ, Kim A, Steinberg SM, Balis FM.

Neuro Oncol. 2014 May;16(5):707-18. doi: 10.1093/neuonc/nou004. Epub 2014 Feb 4.

31.

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.

Widemann BC, Acosta MT, Ammoun S, Belzberg AJ, Bernards A, Blakeley J, Bretscher A, Cichowski K, Clapp DW, Dombi E, Evans GD, Ferner R, Fernandez-Valle C, Fisher MJ, Giovannini M, Gutmann DH, Hanemann CO, Hennigan R, Huson S, Ingram D, Kissil J, Korf BR, Legius E, Packer RJ, McClatchey AI, McCormick F, North K, Pehrsson M, Plotkin SR, Ramesh V, Ratner N, Schirmer S, Sherman L, Schorry E, Stevenson D, Stewart DR, Ullrich N, Bakker AC, Morrison H.

Am J Med Genet A. 2014 Mar;164A(3):563-78. doi: 10.1002/ajmg.a.36312. Epub 2014 Jan 17.

32.

Puberty and plexiform neurofibroma tumor growth in patients with neurofibromatosis type I.

Dagalakis U, Lodish M, Dombi E, Sinaii N, Sabo J, Baldwin A, Steinberg SM, Stratakis CA, Widemann BC.

J Pediatr. 2014 Mar;164(3):620-4. doi: 10.1016/j.jpeds.2013.10.081. Epub 2013 Dec 8.

33.

Conclusions and future directions for the REiNS International Collaboration.

Widemann BC, Blakeley JO, Dombi E, Fisher MJ, Hanemann CO, Walsh KS, Wolters PL, Plotkin SR.

Neurology. 2013 Nov 19;81(21 Suppl 1):S41-4. doi: 10.1212/01.wnl.0000435748.79908.c5.

34.

Recommendations for imaging tumor response in neurofibromatosis clinical trials.

Dombi E, Ardern-Holmes SL, Babovic-Vuksanovic D, Barker FG, Connor S, Evans DG, Fisher MJ, Goutagny S, Harris GJ, Jaramillo D, Karajannis MA, Korf BR, Mautner V, Plotkin SR, Poussaint TY, Robertson K, Shih CS, Widemann BC; REiNS International Collaboration.

Neurology. 2013 Nov 19;81(21 Suppl 1):S33-40. doi: 10.1212/01.wnl.0000435744.57038.af.

35.

Achieving consensus for clinical trials: the REiNS International Collaboration.

Plotkin SR, Blakeley JO, Dombi E, Fisher MJ, Hanemann CO, Walsh KS, Wolters PL, Widemann BC.

Neurology. 2013 Nov 19;81(21 Suppl 1):S1-5. doi: 10.1212/01.wnl.0000435743.49414.b6. Review.

36.

Vandetanib in children and adolescents with multiple endocrine neoplasia type 2B associated medullary thyroid carcinoma.

Fox E, Widemann BC, Chuk MK, Marcus L, Aikin A, Whitcomb PO, Merino MJ, Lodish M, Dombi E, Steinberg SM, Wells SA, Balis FM.

Clin Cancer Res. 2013 Aug 1;19(15):4239-48. doi: 10.1158/1078-0432.CCR-13-0071. Epub 2013 Jun 13.

37.

Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas.

Avery RA, Dombi E, Hutcheson KA, Acosta MT, Baldwin AM, Madigan WP, Gillespie A, Fitzgibbon EJ, Packer RJ, Widemann BC.

Am J Ophthalmol. 2013 Jun;155(6):1089-1094.e1. doi: 10.1016/j.ajo.2013.01.011. Epub 2013 Feb 26.

PMID:
23453281
38.

MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors.

Jessen WJ, Miller SJ, Jousma E, Wu J, Rizvi TA, Brundage ME, Eaves D, Widemann B, Kim MO, Dombi E, Sabo J, Hardiman Dudley A, Niwa-Kawakita M, Page GP, Giovannini M, Aronow BJ, Cripe TP, Ratner N.

J Clin Invest. 2013 Jan;123(1):340-7. doi: 10.1172/JCI60578. Epub 2012 Dec 10.

39.

Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition.

Prada CE, Jousma E, Rizvi TA, Wu J, Dunn RS, Mayes DA, Cancelas JA, Dombi E, Kim MO, West BL, Bollag G, Ratner N.

Acta Neuropathol. 2013 Jan;125(1):159-68. doi: 10.1007/s00401-012-1056-7. Epub 2012 Oct 26.

40.

Bone mineral density in children and young adults with neurofibromatosis type 1.

Lodish MB, Dagalakis U, Sinaii N, Bornstein E, Kim A, Lokie KB, Baldwin AM, Reynolds JC, Dombi E, Stratakis CA, Widemann BC.

Endocr Relat Cancer. 2012 Nov 19;19(6):817-25. doi: 10.1530/ERC-12-0293. Print 2012 Dec.

41.

Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1.

Nguyen R, Dombi E, Widemann BC, Solomon J, Fuensterer C, Kluwe L, Friedman JM, Mautner VF.

Orphanet J Rare Dis. 2012 Oct 4;7:75. doi: 10.1186/1750-1172-7-75.

42.

Phase I trial and pharmacokinetic study of sorafenib in children with neurofibromatosis type I and plexiform neurofibromas.

Kim A, Dombi E, Tepas K, Fox E, Martin S, Wolters P, Balis FM, Jayaprakash N, Turkbey B, Muradyan N, Choyke PL, Reddy A, Korf B, Widemann BC.

Pediatr Blood Cancer. 2013 Mar;60(3):396-401. doi: 10.1002/pbc.24281. Epub 2012 Sep 7.

PMID:
22961690
43.

18-fluorodeoxyglucose-positron emission tomography (FDG-PET) evaluation of nodular lesions in patients with Neurofibromatosis type 1 and plexiform neurofibromas (PN) or malignant peripheral nerve sheath tumors (MPNST).

Meany H, Dombi E, Reynolds J, Whatley M, Kurwa A, Tsokos M, Salzer W, Gillespie A, Baldwin A, Derdak J, Widemann B.

Pediatr Blood Cancer. 2013 Jan;60(1):59-64. doi: 10.1002/pbc.24212. Epub 2012 May 29.

PMID:
22645095
44.

Social-emotional functioning of children and adolescents with neurofibromatosis type 1 and plexiform neurofibromas: relationships with cognitive, disease, and environmental variables.

Martin S, Wolters P, Baldwin A, Gillespie A, Dombi E, Walker K, Widemann B.

J Pediatr Psychol. 2012 Aug;37(7):713-24. doi: 10.1093/jpepsy/jsr124. Epub 2012 Feb 21.

45.

(111)In-octreotide scintigraphy for identification of metastatic medullary thyroid carcinoma in children and adolescents.

Lodish M, Dagalakis U, Chen CC, Sinaii N, Whitcomb P, Aikin A, Dombi E, Marcus L, Widemann B, Fox E, Chuk M, Balis F, Wells S Jr, Stratakis CA.

J Clin Endocrinol Metab. 2012 Feb;97(2):E207-12. doi: 10.1210/jc.2011-2766. Epub 2011 Dec 7.

46.

Automated volumetric growth plate measurement using magnetic resonance imaging for monitoring skeletal toxicity in children treated on investigational drug trials.

Kim A, Dombi E, Solomon J, Fox E, Balis FM, Widemann BC.

Clin Cancer Res. 2011 Sep 15;17(18):5982-90. doi: 10.1158/1078-0432.CCR-10-2259. Epub 2011 Aug 1.

47.

Assessment of objective responses using volumetric evaluation in advanced thymic malignancies and metastatic non-small cell lung cancer.

Force J, Rajan A, Dombi E, Steinberg SM, Giaccone G.

J Thorac Oncol. 2011 Jul;6(7):1267-73. doi: 10.1097/JTO.0b013e3182199be2.

48.

Preclincial testing of sorafenib and RAD001 in the Nf(flox/flox) ;DhhCre mouse model of plexiform neurofibroma using magnetic resonance imaging.

Wu J, Dombi E, Jousma E, Scott Dunn R, Lindquist D, Schnell BM, Kim MO, Kim A, Widemann BC, Cripe TP, Ratner N.

Pediatr Blood Cancer. 2012 Feb;58(2):173-80. doi: 10.1002/pbc.23015. Epub 2011 Feb 11.

49.

Phase I trial of pegylated interferon-alpha-2b in young patients with plexiform neurofibromas.

Jakacki RI, Dombi E, Potter DM, Goldman S, Allen JC, Pollack IF, Widemann BC.

Neurology. 2011 Jan 18;76(3):265-72. doi: 10.1212/WNL.0b013e318207b031.

50.

A phase 1 trial and pharmacokinetic study of cediranib, an orally bioavailable pan-vascular endothelial growth factor receptor inhibitor, in children and adolescents with refractory solid tumors.

Fox E, Aplenc R, Bagatell R, Chuk MK, Dombi E, Goodspeed W, Goodwin A, Kromplewski M, Jayaprakash N, Marotti M, Brown KH, Wenrich B, Adamson PC, Widemann BC, Balis FM.

J Clin Oncol. 2010 Dec 10;28(35):5174-81. doi: 10.1200/JCO.2010.30.9674. Epub 2010 Nov 8.

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