The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis

Por Muftuoglu, Meltem, Oshima, Junko, von Kobbe, Cayetano, Cheng, Wen-Hsing, Leistritz, Dru F., Bohr, Vilhelm A.
Publicado no Hum Genet (2008)

Collagen Expression in Fibroblasts with a Novel LMNA Mutation

Por Nguyen, Desiree, Leistritz, Dru F., Turner, Lesley, MacGregor, David, Ohson, Kamal, Dancey, Paul, Martin, George M., Oshima, Junko
Publicado em 2006

Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

Por Jørgensen, Agnete, Fagerheim, Toril, Rand-Hendriksen, Svend, Lunde, Per I, Vorren, Torgrim O, Pepin, Melanie G, Leistritz, Dru F, Byers, Peter H
Publicado no Eur J Hum Genet (2015)

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

Por Pyott, Shawna M., Tran, Thao T., Leistritz, Dru F., Pepin, Melanie G., Mendelsohn, Nancy J., Temme, Renee T., Fernandez, Bridget A., Elsayed, Solaf M., Elsobky, Ezzat, Verma, Ishwar, Nair, Sreelata, Turner, Emily H., Smith, Joshua D., Jarvik, Gail P., Byers, Peter H.
Publicado em 2013

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

Por Pyott, Shawna M., Schwarze, Ulrike, Christiansen, Helena E., Pepin, Melanie G., Leistritz, Dru F., Dineen, Richard, Harris, Catharine, Burton, Barbara K., Angle, Brad, Kim, Katherine, Sussman, Michael D., Weis, MaryAnn, Eyre, David R., Russell, David W., McCarthy, Kevin J., Steiner, Robert D., Byers, Peter H.
Publicado em 2011

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

Por Friedrich, Katrin, Lee, Lin, Leistritz, Dru F., Nürnberg, Gudrun, Saha, Bidisha, Hisama, Fuki M., Eyman, Daniel K., Lessel, Davor, Nürnberg, Peter, Li, Chumei, Garcia-F-Villalta, María J., Kets, Carolien M., Schmidtke, Joerg, Cruz, Vítor Tedim, Van den Akker, Peter C., Boak, Joseph, Peter, Dincy, Compoginis, Goli, Cefle, Kivanc, Ozturk, Sukru, López, Norberto, Wessel, Theda, Poot, Martin, Ippel, P. F., Groff-Kellermann, Birgit, Hoehn, Holger, Martin, George M., Kubisch, Christian, Oshima, Junko
Publicado no Hum Genet (2010)

The Spectrum of WRN Mutations in Werner Syndrome Patients

Por Huang, Shurong, Lee, Lin, Hanson, Nancy B., Lenaerts, Catherine, Hoehn, Holger, Poot, Martin, Rubin, Craig D., Chen, Da-Fu, Yang, Chih-Chao, Juch, Heike, Dorn, Thomas, Spiegel, Roland, Oral, Elif Arioglu, Abid, Mohammed, Battisti, Carla, Lucci-Cordisco, Emanuela, Neri, Giovanni, Steed, Erin H., Kidd, Alexa, Isley, William, Showalter, David, Vittone, Janet L., Konstantinow, Alexander, Ring, Johannes, Meyer, Peter, Wenger, Sharon L., von Herbay, Axel, Wollina, Uwe, Schuelke, Markus, Huizenga, Carin R., Leistritz, Dru F., Martin, George M., Mian, I. Saira, Oshima, Junko
Publicado em 2006