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Items: 35

1.

Radiomic biomarkers informative of cancerous transformation in neurofibromatosis-1 plexiform tumors.

Uthoff J, De Stefano FA, Panzer K, Darbro BW, Sato TS, Khanna R, Quelle DE, Meyerholz DK, Weimer J, Sieren JC.

J Neuroradiol. 2018 Jun 27. pii: S0150-9861(17)30519-9. doi: 10.1016/j.neurad.2018.05.006. [Epub ahead of print]

PMID:
29958847
2.

A porcine model of neurofibromatosis type 1 that mimics the human disease.

White KA, Swier VJ, Cain JT, Kohlmeyer JL, Meyerholz DK, Tanas MR, Uthoff J, Hammond E, Li H, Rohret FA, Goeken A, Chan CH, Leidinger MR, Umesalma S, Wallace MR, Dodd RD, Panzer K, Tang AH, Darbro BW, Moutal A, Cai S, Li W, Bellampalli SS, Khanna R, Rogers CS, Sieren JC, Quelle DE, Weimer JM.

JCI Insight. 2018 Jun 21;3(12). pii: 120402. doi: 10.1172/jci.insight.120402. [Epub ahead of print]

3.

Uniparental disomy unveils a novel recessive mutation in POMT2.

Brun BN, Willer T, Darbro BW, Gonorazky HD, Naumenko S, Dowling JJ, Campbell KP, Moore SA, Mathews KD.

Neuromuscul Disord. 2018 Jul;28(7):592-596. doi: 10.1016/j.nmd.2018.04.003. Epub 2018 Apr 10.

PMID:
29759639
4.

Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.

Lansdon LA, Darbro BW, Petrin AL, Hulstrand AM, Standley JM, Brouillette RB, Long A, Mansilla MA, Cornell RA, Murray JC, Houston DW, Manak JR.

Genetics. 2018 Jan;208(1):283-296. doi: 10.1534/genetics.117.300535. Epub 2017 Nov 21.

PMID:
29162626
5.

Immunohistochemical Markers for Prospective Studies in Neurofibromatosis-1 Porcine Models.

Meyerholz DK, Ofori-Amanfo GK, Leidinger MR, Goeken JA, Khanna R, Sieren JC, Darbro BW, Quelle DE, Weimer JM.

J Histochem Cytochem. 2017 Oct;65(10):607-618. doi: 10.1369/0022155417729357. Epub 2017 Aug 28.

PMID:
28846462
6.

Development of Secondary Acute Myeloid Leukemia in a Pediatric Patient Concurrently Receiving Primary Therapy for Ewing Sarcoma.

McNew BR, Darbro BW, Ma D, Gordon DJ.

J Pediatr Hematol Oncol. 2017 Oct;39(7):e370-e372. doi: 10.1097/MPH.0000000000000924.

PMID:
28816792
7.

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.

Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, Clarke JC, Peterson KA, Denegre J, Schneider M, Sussman CR, Sunde L, Lildballe DL, Hertz JM, Cornell RA, Murray SA, Manak JR.

Genetics. 2017 Sep;207(1):215-228. doi: 10.1534/genetics.117.1125. Epub 2017 Jul 24.

8.

Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

Cox AJ, Darbro BW, Laxer RM, Velez G, Bing X, Finer AL, Erives A, Mahajan VB, Bassuk AG, Ferguson PJ.

PLoS One. 2017 Jul 7;12(7):e0181222. doi: 10.1371/journal.pone.0181222. eCollection 2017.

9.

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

Cox AJ, Darbro BW, Laxer RM, Velez G, Bing X, Finer AL, Erives A, Mahajan VB, Bassuk AG, Ferguson PJ.

PLoS One. 2017 Mar 16;12(3):e0169687. doi: 10.1371/journal.pone.0169687. eCollection 2017. Erratum in: PLoS One. 2017 Jul 7;12 (7):e0181222.

10.

The Eating-Disorder Associated HDAC4A778T Mutation Alters Feeding Behaviors in Female Mice.

Lutter M, Khan MZ, Satio K, Davis KC, Kidder IJ, McDaniel L, Darbro BW, Pieper AA, Cui H.

Biol Psychiatry. 2017 May 1;81(9):770-777. doi: 10.1016/j.biopsych.2016.09.024. Epub 2016 Oct 13.

11.

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.

Hildebrand MS, Griffin NG, Damiano JA, Cops EJ, Burgess R, Ozturk E, Jones NC, Leventer RJ, Freeman JL, Harvey AS, Sadleir LG, Scheffer IE, Major H, Darbro BW, Allen AS, Goldstein DB, Kerrigan JF, Berkovic SF, Heinzen EL.

Am J Hum Genet. 2016 Aug 4;99(2):423-9. doi: 10.1016/j.ajhg.2016.05.031. Epub 2016 Jul 21.

12.

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.

Thomas CP, Mansilla MA, Sompallae R, Mason SO, Nishimura CJ, Kimble MJ, Campbell CA, Kwitek AE, Darbro BW, Stewart ZA, Smith RJ.

Am J Transplant. 2017 Feb;17(2):401-410. doi: 10.1111/ajt.13970. Epub 2016 Aug 24.

13.

Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.

Darbro BW, Singh R, Zimmerman MB, Mahajan VB, Bassuk AG.

PLoS One. 2016 Mar 2;11(3):e0149041. doi: 10.1371/journal.pone.0149041. eCollection 2016.

14.

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.

Damiano JA, Mullen SA, Hildebrand MS, Bellows ST, Lawrence KM, Arsov T, Dibbens L, Major H, Dahl HH, Mefford HC, Darbro BW, Scheffer IE, Berkovic SF.

Epilepsy Res. 2015 Nov;117:70-3. doi: 10.1016/j.eplepsyres.2015.09.007. Epub 2015 Sep 9.

PMID:
26421493
15.

A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.

Beraldi R, Chan CH, Rogers CS, Kovács AD, Meyerholz DK, Trantzas C, Lambertz AM, Darbro BW, Weber KL, White KA, Rheeden RV, Kruer MC, Dacken BA, Wang XJ, Davis BT, Rohret JA, Struzynski JT, Rohret FA, Weimer JM, Pearce DA.

Hum Mol Genet. 2015 Nov 15;24(22):6473-84. doi: 10.1093/hmg/ddv356. Epub 2015 Sep 15.

16.

Promoting improved utilization of laboratory testing through changes in an electronic medical record: experience at an academic medical center.

Krasowski MD, Chudzik D, Dolezal A, Steussy B, Gailey MP, Koch B, Kilborn SB, Darbro BW, Rysgaard CD, Klesney-Tait JA.

BMC Med Inform Decis Mak. 2015 Feb 22;15:11. doi: 10.1186/s12911-015-0137-7.

17.

The heritability of hemolysis in stored human red blood cells.

Van 't Erve TJ, Wagner BA, Martin SM, Knudson CM, Blendowski R, Keaton M, Holt T, Hess JR, Buettner GR, Ryckman KK, Darbro BW, Murray JC, Raife TJ.

Transfusion. 2015 Jun;55(6):1178-85. doi: 10.1111/trf.12992. Epub 2015 Feb 2.

18.

CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays.

Goodman CW, Major HJ, Walls WD, Sheffield VC, Casavant TL, Darbro BW.

J Biomed Inform. 2015 Apr;54:106-13. doi: 10.1016/j.jbi.2015.01.001. Epub 2015 Jan 13.

19.

Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations.

Sherman SK, Maxwell JE, Qian Q, Bellizzi AM, Braun TA, Iannettoni MD, Darbro BW, Howe JR.

Cancer Genet. 2015 Jan-Feb;208(1-2):41-6. doi: 10.1016/j.cancergen.2014.11.002. Epub 2014 Nov 15.

20.

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

Gonzalez-Alegre P, Di Paola J, Wang K, Fabbro S, Yu HC, Shaikh TH, Darbro BW, Bassuk AG.

Tremor Other Hyperkinet Mov (N Y). 2014 Oct 20;4:258. doi: 10.7916/D8FB51G3. eCollection 2014.

21.

RABL6A promotes G1-S phase progression and pancreatic neuroendocrine tumor cell proliferation in an Rb1-dependent manner.

Hagen J, Muniz VP, Falls KC, Reed SM, Taghiyev AF, Quelle FW, Gourronc FA, Klingelhutz AJ, Major HJ, Askeland RW, Sherman SK, O'Dorisio TM, Bellizzi AM, Howe JR, Darbro BW, Quelle DE.

Cancer Res. 2014 Nov 15;74(22):6661-70. doi: 10.1158/0008-5472.CAN-13-3742. Epub 2014 Oct 1.

22.

Heritability of glutathione and related metabolites in stored red blood cells.

van 't Erve TJ, Doskey CM, Wagner BA, Hess JR, Darbro BW, Ryckman KK, Murray JC, Raife TJ, Buettner GR.

Free Radic Biol Med. 2014 Nov;76:107-13. doi: 10.1016/j.freeradbiomed.2014.07.040. Epub 2014 Aug 7.

23.

Development and translational imaging of a TP53 porcine tumorigenesis model.

Sieren JC, Meyerholz DK, Wang XJ, Davis BT, Newell JD Jr, Hammond E, Rohret JA, Rohret FA, Struzynski JT, Goeken JA, Naumann PW, Leidinger MR, Taghiyev A, Van Rheeden R, Hagen J, Darbro BW, Quelle DE, Rogers CS.

J Clin Invest. 2014 Sep;124(9):4052-66. doi: 10.1172/JCI75447. Epub 2014 Aug 8.

24.

The heritability of metabolite concentrations in stored human red blood cells.

van 't Erve TJ, Wagner BA, Martin SM, Knudson CM, Blendowski R, Keaton M, Holt T, Hess JR, Buettner GR, Ryckman KK, Darbro BW, Murray JC, Raife TJ.

Transfusion. 2014 Aug;54(8):2055-63. doi: 10.1111/trf.12605. Epub 2014 Mar 6.

25.

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.

Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, Sasaoka T, Tao H, Miyagi A, Ueno N, Takao K, Miyakawa T, Wu S, Darbro BW, Ferguson PJ, Pieper AA, Britt JK, Wemmie JA, Rudd DS, Wassink T, El-Shanti H, Mefford HC, Carvill GL, Manak JR, Bassuk AG.

PLoS One. 2013 Dec 3;8(12):e80737. doi: 10.1371/journal.pone.0080737. eCollection 2013.

26.

G-protein coupled receptor expression patterns delineate medulloblastoma subgroups.

Whittier KL, Boese EA, Gibson-Corley KN, Kirby PA, Darbro BW, Qian Q, Ingram WJ, Robertson T, Remke M, Taylor MD, O'Dorisio MS.

Acta Neuropathol Commun. 2013 Oct 10;1:66. doi: 10.1186/2051-5960-1-66.

27.

Eating disorder predisposition is associated with ESRRA and HDAC4 mutations.

Cui H, Moore J, Ashimi SS, Mason BL, Drawbridge JN, Han S, Hing B, Matthews A, McAdams CJ, Darbro BW, Pieper AA, Waller DA, Xing C, Lutter M.

J Clin Invest. 2013 Nov;123(11):4706-13.

28.

Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.

Brophy PD, Alasti F, Darbro BW, Clarke J, Nishimura C, Cobb B, Smith RJ, Manak JR.

Hum Genet. 2013 Dec;132(12):1339-50. doi: 10.1007/s00439-013-1338-8. Epub 2013 Jul 13.

29.

Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction.

Sowers LP, Loo L, Wu Y, Campbell E, Ulrich JD, Wu S, Paemka L, Wassink T, Meyer K, Bing X, El-Shanti H, Usachev YM, Ueno N, Manak JR, Shepherd AJ, Ferguson PJ, Darbro BW, Richerson GB, Mohapatra DP, Wemmie JA, Bassuk AG.

Mol Psychiatry. 2013 Oct;18(10):1077-89. doi: 10.1038/mp.2013.71. Epub 2013 May 28. Erratum in: Mol Psychiatry. 2014 Jun;19(6):742. Manak, R J [corrected to Manak, J R].

30.

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.

Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M, Hai HD, Viet le T, Loddo S, Valente EM, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG.

Hum Mutat. 2013 Aug;34(8):1075-9. doi: 10.1002/humu.22351. Epub 2013 May 28.

31.

TBK1 and flanking genes in human retina.

Fingert JH, Darbro BW, Qian Q, Van Rheeden R, Miller K, Riker M, Solivan-Timpe F, Roos BR, Robin AL, Mullins RF.

Ophthalmic Genet. 2014 Mar;35(1):35-40. doi: 10.3109/13816810.2013.768674. Epub 2013 Feb 20.

32.

Lactobacillus delbrueckii as the cause of urinary tract infection.

Darbro BW, Petroelje BK, Doern GV.

J Clin Microbiol. 2009 Jan;47(1):275-7. doi: 10.1128/JCM.01630-08. Epub 2008 Nov 5.

33.

Methylation of the p16(INK4a) promoter region in telomerase immortalized human keratinocytes co-cultured with feeder cells.

Darbro BW, Lee KM, Nguyen NK, Domann FE, Klingelhutz AJ.

Oncogene. 2006 Nov 30;25(56):7421-33. Epub 2006 Jun 12.

34.
35.

Amplification of the chromosome 20q region is associated with expression of HPV-16 E7 in human airway and anogenital epithelial cells.

Klingelhutz AJ, Qian Q, Phillips SL, Gourronc FA, Darbro BW, Patil SR.

Virology. 2005 Sep 30;340(2):237-44.

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