ADULT OSTEOPOROSIS WITH A HISTORY OF CHILDHOOD-ONSET FRACTURE DUE TO AN LRP5 RECEPTOR VARIANT MUTATION

von Shin, Terry, Shapiro, Jay R.
Veröffentlicht in AACE Clin Case Rep (2019)

Hearing Loss in Osteogenesis Imperfecta: Characteristics and Treatment Considerations

von Pillion, Joseph P., Vernick, David, Shapiro, Jay
Veröffentlicht 2011

Bulbous epiphysis and popcorn calcification as related to growth plate differentiation in osteogenesis imperfecta

von Brizola, Evelise, McCarthy, Edward, Shapiro, Jay Robert
Veröffentlicht in Clin Cases Miner Bone Metab (2015)

Osteoblast function and bone histomorphometry in a murine model of Rett syndrome

von Blue, Mary E., Boskey, Adele L., Doty, Stephen B., Fedarko, Neal S., Hossain, Mir Ahamed, Shapiro, Jay R.
Veröffentlicht in Bone (2015)

Genetic and environmental influences on bone mineral density in pre- and post-menopausal women

von Brown, Lillian B., Streeten, Elizabeth A., Shapiro, Jay R., McBride, Daniel, Shuldiner, Alan R., Peyser, Patricia A., Mitchell, Braxton D.
Veröffentlicht 2005

Bone Mass in Rett Syndrome: Association with Clinical Parameters and MECP2 Mutations

von Shapiro, Jay R., Bibat, Genila, Hiremath, Girish, Blue, Mary E., Hundalini, Shilpa, Yablonski, Theodore, Kantipuly, Aditi, Rohde, Charles, Johnston, Michael, Naidu, SakkuBai
Veröffentlicht 2010

Evaluation of teriparatide treatment in adults with osteogenesis imperfecta

von Orwoll, Eric S., Shapiro, Jay, Veith, Sandra, Wang, Ying, Lapidus, Jodi, Vanek, Chaim, Reeder, Jan L., Keaveny, Tony M., Lee, David C., Mullins, Mary A., Nagamani, Sandesh C.S., Lee, Brendan
Veröffentlicht 2014

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation

von Shapiro, Jay R, Lietman, Caressa, Grover, Monica, Lu, James T, Nagamani, Sandesh CS, Dawson, Brian C, Baldridge, Dustin M, Bainbridge, Matthew N, Cohn, Dan H, Blazo, Maria, Roberts, Timothy T, Brennen, Feng-Shu, Wu, Yimei, Gibbs, Richard A, Melvin, Pamela, Campeau, Philippe M, Lee, Brendan H
Veröffentlicht 2013

A Cross-sectional Multicenter Study of Osteogenesis Imperfecta in North America – Results from the Linked Clinical Research Centers

von Patel, Ronak M, Nagamani, Sandesh CS, Cuthbertson, David, Campeau, Philippe M, Krischer, Jeffrey P, Shapiro, Jay R, Steiner, Robert D, Smith, Peter A, Bober, Michael B, Byers, Peter H, Pepin, Melanie, Durigova, Michaela, Glorieux, Francis H, Rauch, Frank, Lee, Brendan H, Smith, Tracy, Sutton, V. Reid
Veröffentlicht in Clin Genet (2014)

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

von 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
Veröffentlicht in Genet Med (2018)

Mobility in Osteogenesis Imperfecta: A Multicenter North American Study

von Kruger, Karen M., Caudill, Angela, Celin, Mercedes Rodriguez, Nagamani, Sandesh CS, Shapiro, Jay R, Steiner, Robert D, Bober, Michael B, Hart, Tracy, Cuthbertson, David, Krischer, Jeff, Byers, Peter H, Durigova, Michaela, Glorieux, Francis H, Rauch, Frank, Sutton, V Reid, Lee, Brendan, Rush, Eric T, Smith, Peter A., Harris, Gerald F.
Veröffentlicht in Am J Med Genet A (2019)

Mobility in Osteogenesis Imperfecta: A Multicenter North American Study

von Kruger, Karen M., Caudill, Angela, Celin, Mercedes Rodriguez, Nagamani, Sandesh CS, Shapiro, Jay R, Steiner, Robert D, Bober, Michael B, Hart, Tracy, Cuthbertson, David, Krischer, Jeff, Byers, Peter H, Durigova, Michaela, Glorieux, Francis H, Rauch, Frank, Sutton, V Reid, Lee, Brendan, Rush, Eric T, Smith, Peter A., Harris, Gerald F.
Veröffentlicht in Genet Med (2019)

A Multicenter Study to Evaluate Pulmonary Function in Osteogenesis Imperfecta

von Tam, Allison, Chen, Shan, Schauer, Evan, Grafe, Ingo, Bandi, Venkata, Shapiro, Jay R, Steiner, Robert D, Smith, Peter A, Bober, Michael B, Hart, Tracy, Cuthbertson, David, Krischer, Jeff, Mullins, Mary, Byers, Peter H, Sandhaus, Robert A, Durigova, Michaela, Glorieux, Francis H, Rauch, Frank, Sutton, V Reid, Lee, Brendan, Rush, Eric T, Nagamani, Sandesh CS
Veröffentlicht in Clin Genet (2018)

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
Veröffentlicht in JBMR Plus (2019)

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

von Jefferson, Amanda, Leonard, Helen, Siafarikas, Aris, Woodhead, Helen, Fyfe, Sue, Ward, Leanne M., Munns, Craig, Motil, Kathleen, Tarquinio, Daniel, Shapiro, Jay R., Brismar, Torkel, Ben-Zeev, Bruria, Bisgaard, Anne-Marie, Coppola, Giangennaro, Ellaway, Carolyn, Freilinger, Michael, Geerts, Suzanne, Humphreys, Peter, Jones, Mary, Lane, Jane, Larsson, Gunilla, Lotan, Meir, Percy, Alan, Pineda, Mercedes, Skinner, Steven, Syhler, Birgit, Thompson, Sue, Weiss, Batia, Witt Engerström, Ingegerd, Downs, Jenny
Veröffentlicht in PLoS One (2016)

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

von Scholl, Ute I., Goh, Gerald, Stölting, Gabriel, de Oliveira, Regina Campos, Choi, Murim, Overton, John D., Fonseca, Annabelle L., Korah, Reju, Starker, Lee F., Kunstman, John W., Prasad, Manju L., Hartung, Erum A., Mauras, Nelly, Benson, Matthew R., Brady, Tammy, Shapiro, Jay R., Loring, Erin, Nelson-Williams, Carol, Libutti, Steven K., Mane, Shrikant, Hellman, Per, Westin, Gunnar, Åkerström, Göran, Björklund, Peyman, Carling, Tobias, Fahlke, Christoph, Hidalgo, Patricia, Lifton, Richard P.
Veröffentlicht 2013

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

von Adang, Laura A., Sherbini, Omar, Ball, Laura, Bloom, Miriam, Darbari, Anil, Amartino, Hernan, DiVito, Donna, Eichler, Florian, Escolar, Maria, Evans, Sarah H., Fatemi, Ali, Fraser, Jamie, Hollowell, Leslie, Jaffe, Nicole, Joseph, Christopher, Karpinski, Mary, Keller, Stephanie, Maddock, Ryan, Mancilla, Edna, McClary, Bruce, Mertz, Jana, Morgart, Kiley, Langan, Thomas, Leventer, Richard, Parikh, Sumit, Pizzino, Amy, Prange, Erin, Renaud, Deborah L., Rizzo, William, Shapiro, Jay, Suhr, Dean, Suhr, Teryn, Tonduti, Davide, Waggoner, Jacque, Waldman, Amy, Wolf, Nicole I., Zerem, Ayelet, Bonkowsky, Joshua L., Bernard, Genevieve, van Haren, Keith, Vanderver, Adeline
Veröffentlicht in Mol Genet Metab (2017)