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Our Science – DiGiovanna Website

John J. DiGiovanna, M.D.

Selected Publications

1)  Masaki T, Wang Y, Digiovanna JJ, Khan SG, Raffeld M, Beltaifa S, Hornyak TJ, Darling TN, Lee CR, Kraemer KH.
High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.
Pigment Cell Melanoma Res. [Epub ahead of print], 2014.
[Journal]
2)  Tamura D, Digiovanna JJ, Khan SG, Kraemer KH.
Living with Xeroderma Pigmentosum: Comprehensive Photoprotection for Highly Photosensitive Patients.
Photodermatol Photoimmunol Photomed. [Epub ahead of print], 2014.
[Journal]
3)  Zhou X, Khan SG, Tamura D, Ueda T, Boyle J, Compe E, Egly JM, DiGiovanna JJ, Kraemer KH.
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.
Eur. J. Hum. Genet. 21: 831-7, 2013.
[Journal]
4)  Totonchy MB, Tamura D, Pantell MS, Zalewski C, Bradford PT, Merchant SN, Nadol J, Khan SG, Schiffmann R, Pierson TM, Wiggs E, Griffith AJ, DiGiovanna JJ, Kraemer KH, Brewer CC.
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
Brain. 136: 194-208, 2013.
[Journal]
5)  Kraemer KH, Tamura D, Khan SG, Digiovanna JJ.
Burning issues in the diagnosis of xeroderma pigmentosum.
Br. J. Dermatol. 169: 1176, 2013.
[Journal]
6)  Tan X, Anzick SL, Khan SG, Ueda T, Stone G, Digiovanna JJ, Tamura D, Wattendorf D, Busch D, Brewer CC, Zalewski C, Butman JA, Griffith AJ, Meltzer PS, Kraemer KH.
Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency.
Hum. Mutat. 34: 1250-9, 2013.
[Journal]
7)  Kimonis VE, Singh KE, Zhong R, Pastakia B, Digiovanna JJ, Bale SJ.
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.
Genet. Med. 15: 79-83, 2013.
[Journal]
8)  Xiong MY, Korgavkar K, Digiovanna JJ, Weinstock MA.
Fluorouracil and Other Predictors of Morpheaform Basal Cell Carcinoma Among High-Risk Patients: The Veterans Affairs Topical Tretinoin Chemoprevention Trial.
JAMA Dermatol. [Epub ahead of print], 2013.
[Journal]
9)  Viana LM, Seyyedi M, Brewer CC, Zalewski C, DiGiovanna JJ, Tamura D, Totonchy M, Kraemer KH, Nadol JB.
Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration.
Otol. Neurotol. 34: 1230-6, 2013.
[Journal]
10)  Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH.
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.
Ophthalmology. 120: 1324-36, 2013.
[Journal]
Click Here to View Expanded Bibliography.

This page was last updated on 2/25/2014.