Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 134

1.

Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications.

Brownstein AJ, Kostiuk V, Ziganshin BA, Zafar MA, Kuivaniemi H, Body SC, Bale AE, Elefteriades JA.

Aorta (Stamford). 2018 Feb;6(1):13-20. doi: 10.1055/s-0038-1639612. Epub 2018 Jul 27.

2.

TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation.

Gulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK.

Am J Kidney Dis. 2018 Jun 22. pii: S0272-6386(18)30701-7. doi: 10.1053/j.ajkd.2018.05.006. [Epub ahead of print]

PMID:
29941221
3.

The rs626283 Variant in the MBOAT7 Gene is Associated with Insulin Resistance and Fatty Liver in Caucasian Obese Youth.

Umano GR, Caprio S, Di Sessa A, Chalasani N, Dykas DJ, Pierpont B, Bale AE, Santoro N.

Am J Gastroenterol. 2018 Mar;113(3):376-383. doi: 10.1038/ajg.2018.1. Epub 2018 Feb 27.

PMID:
29485130
4.

Whole-exome sequencing in evaluation of patients with venous thromboembolism.

Lee EJ, Dykas DJ, Leavitt AD, Camire RM, Ebberink E, García de Frutos P, Gnanasambandan K, Gu SX, Huntington JA, Lentz SR, Mertens K, Parish CR, Rezaie AR, Sayeski PP, Cromwell C, Bar N, Halene S, Neparidze N, Parker TL, Burns AJ, Dumont A, Yao X, Chaar CIO, Connors JM, Bale AE, Lee AI.

Blood Adv. 2017 Jun 29;1(16):1224-1237. doi: 10.1182/bloodadvances.2017005249. eCollection 2017 Jul 11.

5.

Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients.

Couto PP, Bastos-Rodrigues L, Schayek H, Melo FM, Lisboa RGC, Miranda DM, Vilhena A, Bale AE, Friedman E, De Marco L.

Carcinogenesis. 2017 Oct 26;38(11):1112-1118. doi: 10.1093/carcin/bgx089.

PMID:
28968711
6.

Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.

Brownstein AJ, Ziganshin BA, Kuivaniemi H, Body SC, Bale AE, Elefteriades JA.

Aorta (Stamford). 2017 Feb 1;5(1):11-20. doi: 10.12945/j.aorta.2017.17.003. eCollection 2017 Feb. Review.

7.

Pollutant loading from low-density residential neighborhoods in California.

Bale AE, Greco SE, Pitton BJL, Haver DL, Oki LR.

Environ Monit Assess. 2017 Aug;189(8):386. doi: 10.1007/s10661-017-6104-2. Epub 2017 Jul 8.

PMID:
28689320
8.

Predictors of tanning dependence in white non-Hispanic females and males.

Cartmel B, Bale AE, Mayne ST, Gelernter JE, DeWan AT, Spain P, Leffell DJ, Pagoto S, Ferrucci LM.

J Eur Acad Dermatol Venereol. 2017 Jul;31(7):1223-1228. doi: 10.1111/jdv.14138. Epub 2017 Feb 21.

9.

Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.

Seidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A.

Circ Cardiovasc Genet. 2017 Feb;10(1). pii: e001573. doi: 10.1161/CIRCGENETICS.116.001573.

10.

Body mass index, height and early-onset basal cell carcinoma in a case-control study.

Zhang Y, Cartmel B, Choy CC, Molinaro AM, Leffell DJ, Bale AE, Mayne ST, Ferrucci LM.

Cancer Epidemiol. 2017 Feb;46:66-72. doi: 10.1016/j.canep.2016.12.007. Epub 2016 Dec 28.

11.

Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis.

Kim J, Liao YH, Ionita C, Bale AE, Darras B, Acsadi G.

Pediatr Neurol. 2016 Nov;64:83-86. doi: 10.1016/j.pediatrneurol.2016.08.013. Epub 2016 Aug 24.

PMID:
27671242
12.

Whole-exome identifies RXRG and TH germline variants in familial isolated prolactinoma.

Melo FM, Couto PP, Bale AE, Bastos-Rodrigues L, Passos FM, Lisboa RG, Ng JM, Curran T, Dias EP, Friedman E, De Marco L.

Cancer Genet. 2016 Jun;209(6):251-7. doi: 10.1016/j.cancergen.2016.05.065. Epub 2016 May 4.

PMID:
27245436
13.

Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations.

Ziai J, Matloff E, Choi J, Kombo N, Materin M, Bale AE.

Genet Res (Camb). 2016 Mar 7;98:e5. doi: 10.1017/S0016672316000021.

PMID:
26947005
14.

Role of TM6SF2 rs58542926 in the pathogenesis of nonalcoholic pediatric fatty liver disease: A multiethnic study.

Goffredo M, Caprio S, Feldstein AE, D'Adamo E, Shaw MM, Pierpont B, Savoye M, Zhao H, Bale AE, Santoro N.

Hepatology. 2016 Jan;63(1):117-25. doi: 10.1002/hep.28283. Epub 2015 Nov 16.

15.

Family history of skin cancer is associated with early-onset basal cell carcinoma independent of MC1R genotype.

Berlin NL, Cartmel B, Leffell DJ, Bale AE, Mayne ST, Ferrucci LM.

Cancer Epidemiol. 2015 Dec;39(6):1078-83. doi: 10.1016/j.canep.2015.09.005. Epub 2015 Sep 14.

16.

Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.

Ziganshin BA, Bailey AE, Coons C, Dykas D, Charilaou P, Tanriverdi LH, Liu L, Tranquilli M, Bale AE, Elefteriades JA.

Ann Thorac Surg. 2015 Nov;100(5):1604-11. doi: 10.1016/j.athoracsur.2015.04.106. Epub 2015 Jul 15.

PMID:
26188975
17.

A common variant in the MTNR1b gene is associated with increased risk of impaired fasting glucose (IFG) in youth with obesity.

Zheng C, Dalla Man C, Cobelli C, Groop L, Zhao H, Bale AE, Shaw M, Duran E, Pierpont B, Caprio S, Santoro N.

Obesity (Silver Spring). 2015 May;23(5):1022-9. doi: 10.1002/oby.21030.

18.

Indoor tanning and the MC1R genotype: risk prediction for basal cell carcinoma risk in young people.

Molinaro AM, Ferrucci LM, Cartmel B, Loftfield E, Leffell DJ, Bale AE, Mayne ST.

Am J Epidemiol. 2015 Jun 1;181(11):908-16. doi: 10.1093/aje/kwu356. Epub 2015 Apr 8.

19.

Alcohol intake and early-onset basal cell carcinoma in a case-control study.

Zhang Y, Ferrucci LM, Cartmel B, Molinaro AM, Leffell DJ, Bale AE, Mayne ST.

Br J Dermatol. 2014 Dec;171(6):1451-7. doi: 10.1111/bjd.13291. Epub 2014 Nov 20.

20.

Novel gene identified in an exome-wide association study of tanning dependence.

Cartmel B, Dewan A, Ferrucci LM, Gelernter J, Stapleton J, Leffell DJ, Mayne ST, Bale AE.

Exp Dermatol. 2014 Oct;23(10):757-9. doi: 10.1111/exd.12503.

21.

Systemic glucocorticoid use and early-onset basal cell carcinoma.

Troche JR, Ferrucci LM, Cartmel B, Leffell DJ, Bale AE, Mayne ST.

Ann Epidemiol. 2014 Aug;24(8):625-7. doi: 10.1016/j.annepidem.2014.05.009. Epub 2014 May 22. No abstract available.

22.

Tea, coffee, and caffeine and early-onset basal cell carcinoma in a case-control study.

Ferrucci LM, Cartmel B, Molinaro AM, Leffell DJ, Bale AE, Mayne ST.

Eur J Cancer Prev. 2014 Jul;23(4):296-302. doi: 10.1097/CEJ.0000000000000037.

23.

Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients.

Carneiro JG, Couto PG, Bastos-Rodrigues L, Bicalho MA, Vidigal PV, Vilhena A, Amaral NF, Bale AE, Friedman E, De Marco L.

Genet Res (Camb). 2014;96:e002. doi: 10.1017/S0016672314000032. Epub 2014 Mar 5.

PMID:
24594201
24.

Co-occurrence of risk alleles in or near genes modulating insulin secretion predisposes obese youth to prediabetes.

Giannini C, Dalla Man C, Groop L, Cobelli C, Zhao H, Shaw MM, Duran E, Pierpont B, Bale AE, Caprio S, Santoro N.

Diabetes Care. 2014 Feb;37(2):475-82. doi: 10.2337/dc13-1458. Epub 2013 Sep 23.

25.

The promise and pitfalls of genomics-driven cancer medicine.

Hofstatter EW, Bale AE.

Virtual Mentor. 2013 Aug 1;15(8):681-6. doi: 10.1001/virtualmentor.2013.15.8.stas1-1308. No abstract available.

PMID:
23937784
26.

Indoor tanning and tanning dependence in young people after a diagnosis of basal cell carcinoma.

Cartmel B, Ferrucci LM, Spain P, Bale AE, Pagoto SL, Leffell DJ, Gelernter J, Mayne ST.

JAMA Dermatol. 2013 Sep;149(9):1110-1. doi: 10.1001/jamadermatol.2013.5104. No abstract available.

27.

Correlation of Global MicroRNA Expression With Basal Cell Carcinoma Subtype.

Heffelfinger C, Ouyang Z, Engberg A, Leffell DJ, Hanlon AM, Gordon PB, Zheng W, Zhao H, Snyder MP, Bale AE.

G3 (Bethesda). 2012 Feb;2(2):279-86. doi: 10.1534/g3.111.001115. Epub 2012 Feb 1.

28.

Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates.

Lostritto K, Ferrucci LM, Cartmel B, Leffell DJ, Molinaro AM, Bale AE, Mayne ST.

BMC Public Health. 2012 Feb 10;12:118. doi: 10.1186/1471-2458-12-118.

29.

Host phenotype characteristics and MC1R in relation to early-onset basal cell carcinoma.

Ferrucci LM, Cartmel B, Molinaro AM, Gordon PB, Leffell DJ, Bale AE, Mayne ST.

J Invest Dermatol. 2012 Apr;132(4):1272-9. doi: 10.1038/jid.2011.402. Epub 2011 Dec 8.

30.

Indoor tanning and risk of early-onset basal cell carcinoma.

Ferrucci LM, Cartmel B, Molinaro AM, Leffell DJ, Bale AE, Mayne ST.

J Am Acad Dermatol. 2012 Oct;67(4):552-62. doi: 10.1016/j.jaad.2011.11.940. Epub 2011 Dec 9.

31.

Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents.

Santoro N, Zhang CK, Zhao H, Pakstis AJ, Kim G, Kursawe R, Dykas DJ, Bale AE, Giannini C, Pierpont B, Shaw MM, Groop L, Caprio S.

Hepatology. 2012 Mar;55(3):781-9. doi: 10.1002/hep.24806. Epub 2011 Dec 18.

32.

Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.

Wang NJ, Sanborn Z, Arnett KL, Bayston LJ, Liao W, Proby CM, Leigh IM, Collisson EA, Gordon PB, Jakkula L, Pennypacker S, Zou Y, Sharma M, North JP, Vemula SS, Mauro TM, Neuhaus IM, Leboit PE, Hur JS, Park K, Huh N, Kwok PY, Arron ST, Massion PP, Bale AE, Haussler D, Cleaver JE, Gray JW, Spellman PT, South AP, Aster JC, Blacklow SC, Cho RJ.

Proc Natl Acad Sci U S A. 2011 Oct 25;108(43):17761-6. doi: 10.1073/pnas.1114669108. Epub 2011 Oct 17.

33.

Hereditary melanoma.

Bonadies DC, Bale AE.

Curr Probl Cancer. 2011 Jul-Aug;35(4):162-72. doi: 10.1016/j.currproblcancer.2011.07.001. No abstract available.

PMID:
21911180
34.

Functional and physical interaction between the mismatch repair and FA-BRCA pathways.

Williams SA, Wilson JB, Clark AP, Mitson-Salazar A, Tomashevski A, Ananth S, Glazer PM, Semmes OJ, Bale AE, Jones NJ, Kupfer GM.

Hum Mol Genet. 2011 Nov 15;20(22):4395-410. doi: 10.1093/hmg/ddr366. Epub 2011 Aug 24.

35.

A common variant in the patatin-like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents.

Santoro N, Kursawe R, D'Adamo E, Dykas DJ, Zhang CK, Bale AE, Calí AM, Narayan D, Shaw MM, Pierpont B, Savoye M, Lartaud D, Eldrich S, Cushman SW, Zhao H, Shulman GI, Caprio S.

Hepatology. 2010 Oct;52(4):1281-90. doi: 10.1002/hep.23832.

36.

Basal cell carcinoma arising in a nevus sebaceus in a child with facial trichoepitheliomas.

Jensen AL, Florell SR, Vanderhooft SL, Bale AE.

Pediatr Dermatol. 2011 Mar-Apr;28(2):138-41. doi: 10.1111/j.1525-1470.2010.01227.x.

PMID:
20738793
37.

Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient model.

Kottemann MC, Bale AE.

DNA Repair (Amst). 2009 Aug 6;8(8):944-52. doi: 10.1016/j.dnarep.2009.06.001. Epub 2009 Jul 15.

38.

MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair.

Marek LR, Kottemann MC, Glazer PM, Bale AE.

DNA Repair (Amst). 2008 Mar 1;7(3):476-86. doi: 10.1016/j.dnarep.2007.12.009. Epub 2008 Feb 6.

39.

Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the Ovarian Cancer Association Consortium pooled analysis.

Pearce CL, Wu AH, Gayther SA, Bale AE; Australian Cancer Study (Ovarian Cancer) and Australian Cancer Study Group, Beck PA, Beesley J, Chanock S, Cramer DW, DiCioccio R, Edwards R, Fredericksen ZS, Garcia-Closas M, Goode EL, Green AC, Hartmann LC, Hogdall E, Kjaer SK, Lissowska J, McGuire V, Modugno F, Moysich K, Ness RB, Ramus SJ, Risch HA, Sellers TA, Song H, Stram DO, Terry KL, Webb PM, Whiteman DC, Whittemore AS, Zheng W, Pharoah PD, Chenevix-Trench G, Pike MC, Schildkraut J, Berchuck A; Ovarian Cancer Association Consortium.

Br J Cancer. 2008 Jan 29;98(2):282-8. doi: 10.1038/sj.bjc.6604170. Epub 2008 Jan 22.

40.
41.

Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies.

Brailey LL, Davis T, Kolker SE, Murry TC, Thomas D, Bale AE, Ruhoy SM.

J Cutan Pathol. 2007 Jan;34(1):65-70.

PMID:
17214858
42.

Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome.

Cajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Múgica M.

Nat Clin Pract Oncol. 2006 Oct;3(10):575-80.

PMID:
17019435
43.

PGR +331 A/G and increased risk of epithelial ovarian cancer.

Risch HA, Bale AE, Beck PA, Zheng W.

Cancer Epidemiol Biomarkers Prev. 2006 Sep;15(9):1738-41.

44.

Cytogenetic instability in ovarian epithelial cells from women at risk of ovarian cancer.

Pejovic T, Yates JE, Liu HY, Hays LE, Akkari Y, Torimaru Y, Keeble W, Rathbun RK, Rodgers WH, Bale AE, Ameziane N, Zwaan CM, Errami A, Thuillier P, Cappuccini F, Olson SB, Cain JM, Bagby GC Jr.

Cancer Res. 2006 Sep 15;66(18):9017-25.

45.

Multiple endocrine neoplasia type 1 interacts with forkhead transcription factor CHES1 in DNA damage response.

Busygina V, Kottemann MC, Scott KL, Plon SE, Bale AE.

Cancer Res. 2006 Sep 1;66(17):8397-403. Erratum in: Cancer Res. 2006 Dec 15;66(24):12039.

46.

A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.

Klein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE.

Clin Chem. 2006 Oct;52(10):1864-70. Epub 2006 Aug 3.

47.

Drosophila homologs of FANCD2 and FANCL function in DNA repair.

Marek LR, Bale AE.

DNA Repair (Amst). 2006 Nov 8;5(11):1317-26. Epub 2006 Jul 21.

PMID:
16860002
48.

Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M.

Hum Mutat. 2006 Jul;27(7):626-32.

PMID:
16786505
49.

Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.

Klein RD, Dykas DJ, Bale AE.

Genet Med. 2005 Nov-Dec;7(9):611-9.

PMID:
16301862
50.

Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused.

Cooper AF, Yu KP, Brueckner M, Brailey LL, Johnson L, McGrath JM, Bale AE.

Development. 2005 Oct;132(19):4407-17.

Supplemental Content

Support Center