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个人简介

MD University of Massachusetts (1979) BS Massachusetts Institute of Technology (1975) Postdoctoral Fellow National Cancer Institute Resident Western Pennsylvania Hospital Board Certification AB of Internal Medicine, Internal Medicine (1983) Board Certification AB of Medical Genetics, Clinical Genetics (1987) Board Certification AB of Medical Genetics, Molecular Genetics (1993, recertified: 2010)

研究领域

Congenital Abnormalities; DNA; Fanconi Syndrome; Genetics; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Multiple Endocrine Neoplasia; Neoplastic Syndromes, Hereditary; Skin Neoplasms

近期论文

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Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient model Kottemann, M.C. and A.E. Bale, Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient model. DNA Repair (2009) 8:944-952. MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair Marek LR, Kottemann MC, Glazer PM, Bale AE (Mar 2008) MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair., DNA repair, 7(3)476-86 Multiple endocrine Neoplasia Type 1 Interacts with forkhead transcription factor CHES1 in DNA damage response Busygina, V., Kottemann, M.C., Scott, K.L., Plon, S.E., and Bale, A.E. (2006). Multiple endocrine Neoplasia Type 1 Interacts with forkhead transcription factor CHES1 in DNA damage response. Cancer Res. 66:8397-403. Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome., Nature clinical practice Cajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Múgica M (Oct 2006) Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome., Nature clinical practice. Oncology, 3(10)575-80 Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused Cooper, A.F., et al. (2005). Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused. Dev. 132:4407-17. Zhang Y, Cartmel B, Choy CC, Molinaro AM, Leffell DJ, Bale AE, Mayne ST, Ferrucci LM: Body mass index, height and early-onset basal cell carcinoma in a case-control study. Cancer Epidemiol. 2017 Feb; 2016 Dec 28. PMID: 28039770 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: Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. Circ Cardiovasc Genet. 2017 Feb. PMID: 28087566 Kim J, Liao YH, Ionita C, Bale AE, Darras B, Acsadi G: Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis. Pediatr Neurol. 2016 Nov; 2016 Aug 24. PMID: 27671242 Melo FM, Couto PP, Bale AE, Bastos-Rodrigues L, Passos FM, Lisboa RG, Ng JM, Curran T, Dias EP, Friedman E, De Marco L: Whole-exome identifies RXRG and TH germline variants in familial isolated prolactinoma. Cancer Genet. 2016 Jun; 2016 May 4. PMID: 27245436 Ziai J, Matloff E, Choi J, Kombo N, Materin M, Bale AE: Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations. Genet Res (Camb). 2016 Mar 7; 2016 Mar 7. PMID: 26947005 Goffredo M, Caprio S, Feldstein AE, D'Adamo E, Shaw MM, Pierpont B, Savoye M, Zhao H, Bale AE, Santoro N: Role of TM6SF2 rs58542926 in the pathogenesis of nonalcoholic pediatric fatty liver disease: A multiethnic study. Hepatology. 2016 Jan; 2015 Nov 16. PMID: 26457389 Berlin NL, Cartmel B, Leffell DJ, Bale AE, Mayne ST, Ferrucci LM: Family history of skin cancer is associated with early-onset basal cell carcinoma independent of MC1R genotype. Cancer Epidemiol. 2015 Dec; 2015 Sep 14. PMID: 26381319 Ziganshin BA, Bailey AE, Coons C, Dykas D, Charilaou P, Tanriverdi LH, Liu L, Tranquilli M, Bale AE, Elefteriades JA: Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting. Ann Thorac Surg. 2015 Nov; 2015 Jul 15. PMID: 26188975 Zheng C, Dalla Man C, Cobelli C, Groop L, Zhao H, Bale AE, Shaw M, Duran E, Pierpont B, Caprio S, Santoro N: A common variant in the MTNR1b gene is associated with increased risk of impaired fasting glucose (IFG) in youth with obesity. Obesity (Silver Spring). 2015 May. PMID: 25919927 Cartmel B, Dewan A, Ferrucci LM, Gelernter J, Stapleton J, Leffell DJ, Mayne ST, Bale AE: Novel gene identified in an exome-wide association study of tanning dependence. Exp Dermatol. 2014 Oct. PMID: 25041255 Troche JR, Ferrucci LM, Cartmel B, Leffell DJ, Bale AE, Mayne ST: Systemic glucocorticoid use and early-onset basal cell carcinoma. Ann Epidemiol. 2014 Aug; 2014 May 22. PMID: 24958637 Ferrucci LM, Cartmel B, Molinaro AM, Leffell DJ, Bale AE, Mayne ST: Tea, coffee, and caffeine and early-onset basal cell carcinoma in a case-control study. Eur J Cancer Prev. 2014 Jul. PMID: 24841641 Carneiro JG, Couto PG, Bastos-Rodrigues L, Bicalho MA, Vidigal PV, Vilhena A, Amaral NF, Bale AE, Friedman E, De Marco L: Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients. Genet Res (Camb). 2014; 2014 Mar 5. PMID: 24594201 Cartmel B, Ferrucci LM, Spain P, Bale AE, Pagoto SL, Leffell DJ, Gelernter J, Mayne ST: Indoor tanning and tanning dependence in young people after a diagnosis of basal cell carcinoma. JAMA Dermatol. 2013 Sep. PMID: 23824273 Hofstatter EW, Bale AE: The promise and pitfalls of genomics-driven cancer medicine. Virtual Mentor. 2013 Aug 1; 2013 Aug 1. PMID: 23937784

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