Endovascular repair of a common iliac artery aneurysm with an iliac branch device in a patient with vascular Ehlers-Danlos syndrome due to a null COL3A1 variant

por Shalhub, Sherene, Byers, Peter H.
Publicado 2023

Genetic evaluation of suspected osteogenesis imperfecta (OI)

por Byers, Peter H., Krakow, Deborah, Nunes, Mark E., Pepin, Melanie
Publicado 2006

6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype

por Cheng, Andrew, Neufeld-Kaiser, Whitney, Byers, Peter H., Liu, Yajuan J.
Publicado 2020

True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene

por Shalhub, Sherene, Hysa, Lisa, Byers, Peter H., Meissner, Mark H., Ferreira, Manuel
Publicado 2021

Operative repair of right intrathoracic subclavian artery aneurysms in patients with genetic arteriopathy

por French, Bryce L., Menghini, Anthony M., Burke, Christopher R., Byers, Peter H., Shalhub, Sherene
Publicado 2022

Extrathoracic subclavian artery aneurysm in a patient with suspected genetic arteriopathy

por Banning, Stephanie K., Ur, Rebecca, Malleis, James, Hamlat, Christian A., Byers, Peter H., Shalhub, Sherene
Publicado 2020

Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome

por Dittman, James M., Saldana-Ruiz, Nallely, Newhall, Karina, Byers, Peter H., Starnes, Benjamin W., Shalhub, Sherene
Publicado 2023

Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations

por Pepin, Melanie G, Schwarze, Ulrike, Singh, Virendra, Romana, Marc, Jones-LeCointe, Altheia, Byers, Peter H
Publicado 2013

Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations

por Gistelinck, Charlotte, Weis, MaryAnn, Rai, Jyoti, Schwarze, Ulrike, Niyazov, Dmitriy, Song, Kit M, Byers, Peter H, Eyre, David R
Publicado 2021

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

por Bodian, Dale L., Chan, Ting-Fung, Poon, Annie, Schwarze, Ulrike, Yang, Kathleen, Byers, Peter H., Kwok, Pui-Yan, Klein, Teri E.
Publicado 2009

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

por van Dijk, Fleur S, Byers, Peter H, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rohrbach, Marianne, Symoens, Sofie, Sistermans, Erik A, Pals, Gerard
Publicado 2012

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 2015

Monoallelic and Biallelic CREB3L1 Variant Causes Mild and Severe Osteogenesis Imperfecta, Respectively

por Keller, Rachel B, Tran, Thao T, Pyott, Shawna M, Pepin, Melanie G, Savarirayan, Ravi, McGillivray, George, Nickerson, Deborah A, Bamshad, Michael J, Byers, Peter H
Publicado 2017

Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta

por Makareeva, Elena, Sun, Guoli, Mirigian, Lynn S., Mertz, Edward L., Vera, Juan C., Espinoza, Nydea A., Yang, Kathleen, Chen, Diana, Klein, Teri E., Byers, Peter H., Leikin, Sergey
Publicado 2018

Generalized Connective Tissue Disease in Crtap-/- Mouse

por Baldridge, Dustin, Lennington, Jennifer, Weis, MaryAnn, Homan, Erica P., Jiang, Ming-Ming, Munivez, Elda, Keene, Douglas R., Hogue, William R., Pyott, Shawna, Byers, Peter H., Krakow, Deborah, Cohn, Daniel H., Eyre, David R., Lee, Brendan, Morello, Roy
Publicado 2010

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

por Tran, Thao T., Keller, Rachel B., Guillemyn, Brecht, Pepin, Melanie, Corteville, Jane E., Khatib, Samir, Fallah, Mohammad-Sadegh, Zeinali, Sirous, Malfait, Fransiska, Symoens, Sofie, Coucke, Paul, Witters, Peter, Levtchenko, Elena, Bagherian, Hamideh, Nickerson, Deborah A., Bamshad, Michael J., Chong, Jessica X., Byers, Peter H.
Publicado 2021

Growth Characteristics in individuals with Osteogenesis Imperfecta in North America - Results from a Multicenter Study

por Jain, Mahim, Tam, Allison, Shapiro, Jay R, Steiner, Robert D, Smith, Peter A, Bober, Michael B, Hart, Tracy, Cuthbertson, David, Krischer, Jeff, Mullins, Mary, Bellur, Sunil, Byers, Peter H, Pepin, Melanie, Durigova, Michaela, Glorieux, Francis H, Rauch, Frank, Lee, Brendan, Sutton, V Reid, Nagamani, Sandesh CS
Publicado 2018

A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta

por 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
Publicado 2019

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

por Pujol‐Giménez, Jonai, Mirzaa, Ghayda, Blue, Elizabeth E., Albano, Giuseppe, Miller, Danny E., Allworth, Aimee, Bennett, James T., Byers, Peter H., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Gillentine, Madelyn A., Glass, Ian, Hing, Anne, Horike‐Pyne, Martha, Leppig, Kathleen A., Parhin, Azma, Ranchalis, Jane, Raskind, Wendy H., Rosenthal, Elisabeth A., Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Timms, Andrew, Wener, Mark, Bamshad, Michael J., Hisama, Fuki M., Jarvik, Gail P., Dipple, Katrina M., Hediger, Matthias A., Stergachis, Andrew B.
Publicado 2023

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

por Stergachis, Andrew B., Blue, Elizabeth E., Gillentine, Madelyn A., Wang, Lee-Kai, Schwarze, Ulrike, Cortés, Adriana Sedeño, Ranchalis, Jane, Allworth, Aimee, Bland, Austin E., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Glass, Ian, Horike-Pyne, Martha, Huang, Alden Y., Khan, Alyna T., Leppig, Kathleen A., Miller, Danny E., Mirzaa, Ghayda, Parhin, Azma, Raskind, Wendy H., Rosenthal, Elisabeth A., Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Tran, Thao T., Wener, Mark H., Byers, Peter H. H., Nelson, Stanley F., Bamshad, Michael J., Dipple, Katrina M., Jarvik, Gail P., Hoppins, Suzanne, Hisama, Fuki M.
Publicado 2023