SHINING A LIGHT ON XERODERMA PIGMENTOSUM

por DiGiovanna, John J., Kraemer, Kenneth H.
Publicado 2012

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 2014

Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation

por Wang, Yun, Masaki, Taro, Khan, Sikandar G., Tamura, Deborah, Kuschal, Christiane, Rogers, Megan, DiGiovanna, John J., Kraemer, Kenneth H.
Publicado 2018

Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers

por Fernandez, Elvelyn R., Tamura, Deborah, Khan, Sikandar G., Momen, Sophie, Fassihi, Hiva, Sarkany, Robert, DiGiovanna, John J., Kraemer, Kenneth H.
Publicado 2023

Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman

por Armenta, Andrew M., Massey, Paul R., Khan, Sikandar G., Tamura, Deborah, Levy, Moise L., DiGiovanna, John J., Kraemer, Kenneth H., Fox, Matthew C.
Publicado 2018

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies

por Lehky, Tanya J., Sackstein, Paul, Tamura, Deborah, Quezado, Martha, Wu, Tianxia, Khan, Sikandar G., Patronas, Nicholas J., Wiggs, Edythe, Brewer, Carmen C., DiGiovanna, John J., Kraemer, Kenneth H.
Publicado 2021

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F

por Shanbhag, Niraj M., Geschwind, Michael D., DiGiovanna, John J., Groden, Catherine, Godfrey, Rena, Yousefzadeh, Matthew J., Wade, Erin A., Niedernhofer, Laura J., Malicdan, May Christine V., Kraemer, Kenneth H., Gahl, William A., Toro, Camilo
Publicado 2018

The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D)

por Lai, Jin-Ping, Liu, Yen-Chun, Alimchandani, Meghna, Liu, Qingyan, Aung, Phyu Phyu, Matsuda, Kant, Lee, Chyi-Chia R, Tsokos, Maria, Hewitt, Stephen, Rushing, Elisabeth J, Tamura, Deborah, Levens, David L, DiGiovanna, John J, Fine, Howard A, Patronas, Nicholas, Khan, Sikandar G, Kleiner, David E, Oberholtzer, J Carl, Quezado, Martha M, Kraemer, Kenneth H
Publicado 2013

A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome

por McDermott, David H., Velez, Daniel, Cho, Elena, Cowen, Edward W., DiGiovanna, John J., Pastrana, Diana V., Buck, Christopher B., Calvo, Katherine R., Gardner, Pamela J., Rosenzweig, Sergio D., Stratton, Pamela, Merideth, Melissa A., Kim, H. Jeffrey, Brewer, Carmen, Katz, James D., Kuhns, Douglas B., Malech, Harry L., Follmann, Dean, Fay, Michael P., Murphy, Philip M.
Publicado 2023

Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents

por Zaenglein, Andrea L., Levy, Moise L., Stefanko, Nicole S., Benjamin, Latanya T., Bruckner, Anna L., Choate, Keith, Craiglow, Brittany G., DiGiovanna, John J., Eichenfield, Lawrence F., Elias, Peter, Fleckman, Philip, Lawley, Leslie P., Lewis, Richard A., Lucky, Anne W., Mathes, Erin F., Milstone, Leonard M., Paller, Amy S., Patel, Sonali S., Siegel, Dawn H., Teng, Joyce, Tanumihardjo, Sherry A., Thaxton, Lauren, Williams, Mary L.
Publicado 2020