Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type von Pepin, Melanie, Schwarze, Ulrike, Superti-Furga, Andrea, Byers, Peter H

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Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway von Schwarze, Ulrike, Hata, Ryu-Ichiro, McKusick, Victor A., Shinkai, Hiroshi, Hoyme, H. Eugene, Pyeritz, Reed E., Byers, Peter H.

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Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II) von Schwarze, Ulrike, Atkinson, Mary, Hoffman, Guy G., Greenspan, Daniel S., Byers, Peter H.

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Ehlers-Danlos Syndrome: Recent Advances and Current Understanding of the Clinical and Genetic Heterogeneity von Byers, Peter H

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Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology von Byers, Peter H., Murray, Mitzi L.

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COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy von Leistritz, Dru F, Pepin, Melanie G, Schwarze, Ulrike, Byers, Peter H

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A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers von Patel, R.M., Nagamani, S.C.S., Cuthbertson, D., Campeau, P.M., Krischer, J.P., Shapiro, J.R., Steiner, R.D., Smith, P.A., Bober, M.B., Byers, P.H., Pepin, M., Durigova, M., Glorieux, F.H., Rauch, F., Lee, B.H., Hart, T., Sutton, V.R.

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Pre‐ and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two‐Center Experience von Götherström, Cecilia, Westgren, Magnus, Shaw, S.W. Steven, Åström, Eva, Biswas, Arijit, Byers, Peter H., Mattar, Citra N.Z., Graham, Gail E., Taslimi, Jahan, Ewald, Uwe, Fisk, Nicholas M., Yeoh, Allen E.J., Lin, Ju-Li, Cheng, Po-Jen, Choolani, Mahesh, Le Blanc, Katarina, Chan, Jerry K.Y.

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Osteogenesis Imperfecta von Byers, P H, Steiner, R D

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Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance von Pyott, Shawna M., Pepin, Melanie G., Schwarze, Ulrike, Yang, Kathleen, Smith, Gretchen, Byers, Peter H.

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Gene Targeting in Stem Cells from Individuals with Osteogenesis Imperfecta von Chamberlain, Joel R., Schwarze, Ulrike, Wang, Pei-Rong, Hirata, Roli K., Hankenson, Kurt D., Pace, James M., Underwood, Robert A., Song, Kit M., Sussman, Michael, Byers, Peter H., Russell, David W.

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Collagens: building blocks at the end of the development line von Byers, PH

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Genetic evaluation of suspected osteogenesis imperfecta (OI) von Byers, Peter H, Krakow, Deborah, Nunes, Mark E, Pepin, Melanie

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A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta von Bains, Jaskaran S, Carter, Erin M, Citron, Kate P, Boskey, Adele L, Shapiro, Jay R, Steiner, Robert D, Smith, Peter A, Bober, Michael B, Hart, Tracy, Cuthbertson, David, Krischer, Jeff, Byers, Peter H, Pepin, Melanie, Durigova, Michaela, Glorieux, Francis H, Rauch, Frank, Sliepka, Joseph M, Sutton, V Reid, Lee, Brendan, Nagamani, Sandesh CS, Raggio, Cathleen L

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Type XXVII collagen at the transition of cartilage to bone during skeletogenesis von Hjorten, Rebecca, Hansen, Uwe, Underwood, Robert A, Telfer, Helena E, Fernandes, Russell J, Krakow, Deborah, Sebald, Eiman, Wachsmann-Hogiu, Sebastian, Bruckner, Peter, Jacquet, Robin, Landis, William J, Byers, Peter H, Pace, James M

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Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1 von Pace, James M., Corrado, Marcella, Missero, Caterina, Byers, Peter H.

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Determination of the molecular basis of Marfan syndrome: a growth industry von Byers, Peter H

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Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV von Schwarze, Ulrike, Schievink, Wouter I., Petty, Elizabeth, Jaff, Michael R., Babovic-Vuksanovic, Dusica, Cherry, Kenneth J., Pepin, Melanie, Byers, Peter H.

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Natural variation in four human collagen genes across an ethnically diverse population von Chan, Ting-Fung, Poon, Annie, Basu, Analabha, Addleman, Nick R., Chen, Justin, Phong, Angie, Byers, Peter H., Klein, Teri E., Kwok, Pui-Yan

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2005 ASHG Presidential Address. If only we spoke the same language--we would have so much to discuss von Byers, Peter H

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