SHINING A LIGHT ON XERODERMA PIGMENTOSUM

Por DiGiovanna, John J., Kraemer, Kenneth H.
Publicado em 2012

Forty Years of Research on Xeroderma Pigmentosum at the US National Institutes of Health()

Por Kraemer, Kenneth H., DiGiovanna, John J.
Publicado no Photochem Photobiol (2015)

Founder Mutations in Xeroderma Pigmentosum

Por Tamura, Deborah, DiGiovanna, John J., Kraemer, Kenneth H.
Publicado em 2010

SYSTEMIC RETINOIDS IN THE MANAGEMENT OF OF ICHTHYOSES AND RELATED SKIN TYPES

Por DiGiovanna, John J., Mauro, Theodora, Milstone, Leonard M., Schmuth, Matthias, Toro, Jorge
Publicado em 2013

Multiple Skin Cancers in Adults with Mutations in the XP-E (DDB2) DNA Repair Gene

Por Oh, Kyu-Seon, Emmert, Steffen, Tamura, Deborah, DiGiovanna, John J., Kraemer, Kenneth H.
Publicado em 2010

Histopathologic Characterization of Epidermolytic Hyperkeratosis: A Systematic Review of Histology from the National Registry for Ichthyosis and Related Skin Disorders

Por Ross, Rustin, DiGiovanna, John J., Capaldi, Laura, Argenyi, Zsolt, Fleckman, Philip, Robinson-Bostom, Leslie
Publicado em 2008

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons

Por Kuschal, Christiane, DiGiovanna, John. J., Khan, Sikandar G., Gatti, Richard A., Kraemer, Kenneth H.
Publicado em 2013

2008 International Conference on Ectodermal Dysplasias Classification Conference Report

Por Salinas, Carlos F., Jorgenson, Ronald J., Wright, J. Timothy, DiGiovanna, John J., Fete, Mary D.
Publicado em 2009

Nucleotide Excision Repair Proteins Rapidly Accumulate but Fail to Persist in Human XP-E (DDB2 Mutant) Cells

Por Oh, Kyu-Seon, Imoto, Kyoko, Emmert, Steffen, Tamura, Deborah, DiGiovanna, John J., Kraemer, Kenneth. H.
Publicado em 2011

Growth and Nutrition in Children with Trichothiodystrophy

Por Atkinson, Emily C., Thiara, Diana, Tamura, Deborah, DiGiovanna, John J., Kraemer, Kenneth H., Hadigan, Colleen
Publicado em 2014

XERODERMA PIGMENTOSUM, TRICHOTHIODYSTROPHY AND COCKAYNE SYNDROME: A COMPLEX GENOTYPE-PHENOTYPE RELATIONSHIP

Por Kraemer, Kenneth H., Patronas, Nicholas J., Schiffmann, Raphael, Brooks, Brian P., Tamura, Deborah, DiGiovanna, John J.
Publicado em 2007

Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype

Por Heller, Elizabeth R., Khan, Sikandar G., Kuschal, Christiane, Tamura, Deborah, DiGiovanna, John J., Kraemer, Kenneth H.
Publicado no J Invest Dermatol (2014)

Rapid Development of Migratory, Linear and Serpiginous Lesions in Association with Immunosuppression

Por Pichard, Dominique C., Hensley, Jennifer R., Williams, Esther, Apolo, Andrea B., Klion, Amy D., DiGiovanna, John J.
Publicado em 2014

Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature

Por Ramkumar, Hema L., Brooks, Brian P., Cao, Xiaoguang, Tamura, Deborah, DiGiovanna, John J., Kraemer, Kenneth H., Chan, Chi-Chao
Publicado em 2011

Cutaneous adverse events in multiple sclerosis patients treated with daclizumab

Por Cortese, Irene, Ohayon, Joan, Fenton, Kaylan, Lee, Chyi-Chia, Raffeld, Mark, Cowen, Edward W., DiGiovanna, John J., Bielekova, Bibiana
Publicado no Neurology (2016)

Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: a report from the National...

Por Yang, Catherine S., Pomerantz, Hyemin, Mannava, Kathleen A., Corwin, Jessica, Weinstock, Martin A., Fleckman, Philip, DiGiovanna, John J., Robinson-Bostom, Leslie
Publicado no J Am Acad Dermatol (2016)

BRITTLE HAIR, DEVELOPMENTAL DELAY, NEUROLOGIC ABNORMALITIES AND PHOTOSENSITIVITY IN A 4 YEAR OLD GIRL

Por Zhou, Xiaolong, Khan, Sikandar G., Tamura, Deborah, Patronas, Nicholas J., Zein, Wadih M., Brooks, Brian P., Kraemer, Kenneth H., DiGiovanna, John J.
Publicado em 2010

Genetic Diversity in Melanoma Metastases from a Patient with Xeroderma Pigmentosum

Por Wang, Yun, Tan, Xiao Hui, DiGiovanna, John J., Lee, Chyi-Chia Richard, Stern, Jere B., Raffeld, Mark, Jaffe, Elaine S., Kraemer, Kenneth H.
Publicado em 2009

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum

Por Zhou, Xiaolong, Khan, Sikandar G, Tamura, Deborah, Ueda, Takahiro, Boyle, Jennifer, Compe, Emmanuel, Egly, Jean-Marc, DiGiovanna, John J, Kraemer, Kenneth H
Publicado em 2013

Histopathology of the inner ear in patients with xeroderma pigmentosum and neurological degeneration

Por Viana, Lucas M., Seyyedi, Mohammad, Brewer, Carmen C., Zalewski, Christopher, DiGiovanna, John J., Tamura, Deborah, Totonchy, Mariam, Kraemer, Kenneth H., Nadol, Joseph B.
Publicado em 2013