Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency

Autor Vairamani, Kanimozhi, Merjaneh, Lina, Casano-Sancho, Paula, Sanli, Merve Emecen, David, Alessia, Metherell, Louise A., Savage, Martin O., Sánchez del Pozo, Jaime, Backeljauw, Philippe F., Rosenfeld, Ron G., Aisenberg, Javier, Dauber, Andrew, Hwa, Vivian
Vydáno v J Endocr Soc (2017)

Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Autor Khattab, Ahmed, Haider, Shozeb, Kumar, Ameet, Dhawan, Samarth, Alam, Dauood, Romero, Raquel, Burns, James, Li, Di, Estatico, Jessica, Rahi, Simran, Fatima, Saleel, Alzahrani, Ali, Hafez, Mona, Musa, Noha, Razzghy Azar, Maryam, Khaloul, Najoua, Gribaa, Moez, Saad, Ali, Charfeddine, Ilhem Ben, Bilharinho de Mendonça, Berenice, Belgorosky, Alicia, Dumic, Katja, Dumic, Miroslav, Aisenberg, Javier, Kandemir, Nurgun, Alikasifoglu, Ayfer, Ozon, Alev, Gonc, Nazli, Cheng, Tina, Kuhnle-Krahl, Ursula, Cappa, Marco, Holterhus, Paul-Martin, Nour, Munier A., Pacaud, Daniele, Holtzman, Assaf, Li, Sun, Zaidi, Mone, Yuen, Tony, New, Maria I.
Vydáno v Proc Natl Acad Sci U S A (2017)

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

Autor Auchus, Richard J., Witchel, Selma Feldman, Leight, Kelly R., Aisenberg, Javier, Azziz, Ricardo, Bachega, Tânia A., Baker, Linda A., Baratz, Arlene B., Baskin, Laurence S., Berenbaum, Sheri A., Breault, David T., Cerame, Barbara I., Conway, Gerard S., Eugster, Erica A., Fracassa, Stephanie, Gearhart, John P., Geffner, Mitchell E., Harris, Katharine B., Hurwitz, Richard S., Katz, Aviva L., Kalro, Brinda N., Lee, Peter A., Alger Lin, Gretchen, Loechner, Karen J., Marshall, Ian, Merke, Deborah P., Migeon, Claude J., Miller, Walter L., Nenadovich, Tamara L., Oberfield, Sharon E., Pass, Kenneth A., Poppas, Dix P., Lloyd-Puryear, Michele A., Quigley, Charmian A., Riepe, Felix G., Rink, Richard C., Rivkees, Scott A., Sandberg, David E., Schaeffer, Traci L., Schlussel, Richard N., Schneck, Francis X., Seely, Ellen W., Snyder, Diane, Speiser, Phyllis W., Therrell, Bradford L., VanRyzin, Carol, Vogiatzi, Maria G., Wajnrajch, Michael P., White, Perrin C., Zuckerman, Alan E.
Vydáno 2010