Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism

Autor: Arupa Ganguly, Joanna Yuet-ling Tung, Diva D. DeLeón, Kelvin Y.K. Chan, Jennifer M. Kalish, Brian H.Y. Chung, Florence Loong, Anita Sik Yau Kan, Kit San Yeung, Sophie Hon Yu Lai, Sandy Leung Kuen Au

Publikováno v: International Journal of Pediatric Endocrinology, Vol 2020, Iss 1, Pp 1-6 (2020)
International Journal of Pediatric Endocrinology

Background Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome with variable clinical phenotype and complex molecular aetiology. It is mainly caused by dysregulation of the chromosome 11p15 imprinted region, which results in overgrowth in m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f08b289e5dcade7094476a1a62321e9
http://link.springer.com/article/10.1186/s13633-020-00083-5

Free and Total Insulin-Like Growth Factor (IGF)-I Levels Decline during Fasting: Relationships with Insulin and IGF-Binding Protein-1

Autor: Lorraine E. Levitt Katz, Hui Zhao, Abbas F. Jawad, Diva D. DeLeón

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 87:2978-2983

We have previously demonstrated that IGF-binding protein-1 (IGFBP-1) levels rise steadily during fasting, following an inverse relationship with insulin. The function of the IGFBP-1 rise is unknown, but it has been hypothesized that IGFBP-1 serves as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a6f29654f04b6b9e6920b19c7902f27
https://doi.org/10.1210/jcem.87.6.8601

Contributors

Autor: Saba Ahmad, Craig A. Alter, Brett R. Anderson, Marsha Ayzen, Rochelle Bagatell, H. Jorge Baluarte, Vaneeta Bamba, David R. Bearden, Ulf H. Beier, Lauren A. Beslow, Shazia Bhat, Christopher P. Bonafide, Jill L. Brodsky, Naomi Brown, Jason B. Caboot, Andrew C. Calabria, Leslie Castelo-Soccio, Ann Chahroudi, David Chao, Kathryn Chatfield, Lori A. Christ, Andrew Chu, R. Thomas Collins, Lawrence Copelovitch, Jennifer A. Danzig, Carrie Daymont, Diva D. DeLeón, Michelle Denburg, Melissa Desai, Erin Pete Devon, Aaron Donoghue, Nicholas Evageliou, Mirna M. Farah, Kristen A. Feemster, James Aaron Feinstein, Amy Feldman, Ryan J. Felling, John J. Flibotte, Stephen G. Flynn, Elizabeth E. Foglia, Lisa Forbes, Jackie P.D. Garrett, Laura Gober, Michael D. Gober, Kelly C. Goldsmith, Monika Goyal, Abby Green, Adda Grimberg, Chad R. Haldeman-Englert, E. Kevin Hall, Fiona Healy, Jessica L. Hills, Melissa A. Hofmann, Daniel B. Horton, Anna Hunter, Elif E. Ince, Reena Jethva, Anitha S. John, Amanda Jones, Eden Kahle, Jennifer M. Kalish, Melissa Kennedy, Soorena Khojasteh, Roy J. Kim, Dorit Koren, Matthew P. Kronman, David R. Langdon, Christopher LaRosa, Javier J. Lasa, Lara Wine Lee, Melissa Leyva-Vega, Scott M. Lieberman, Jessica Sparks Lilley, Julie M. Linton, Elizabeth Lowenthal, Sheela N. Magge, Jennifer Mangino, Olivera Marsenic, Pamela A. Mazzeo, Jennifer L. McGuire, Paul McNally, Jane E. Minturn, Manoj K. Mittal, Melissa Mondello, Kathryn M. Murphy, Sage Myers, Frances Nadel, Kyle Nelson, Gustavo Nino, Bettina Mucha-Le Ny, Michael L. O’Byrne, Vikash S. Oza, Andrew A. Palladino, Shefali Parikh, Tara Petersen, Amy L. Peterson, Connie M. Piccone, Sara E. Pinney, Jill Posner, Kari R. Posner, Madhura Pradhan, Ryan M. Raffaelli, Homaira Rahimi, Kristin N. Ray, Susan R. Rheingold, Nicole Ryan, Benjamin A. Sahn, Esther Maria Sampayo, Matthew G. Sampson, Alisa B. Schiffman, Dana Aronson Schinasi, Sandra Schwab, Halden F. Scott, Jeffrey A. Seiden, Dana Sepe, Nilika B. Shah, Rachana Shah, Samir S. Shah, Eric D. Shelov, Angela J. Sievert, Sanjeev K. Swami, Christina Lynch Szperka, Kathryn S. Taub, Alexis Teplick, Deepika Thacker, Oana Tomescu, Howard Topol, Shamir Tuchman, Levon H. Utidjian, Carly R. Varela, Shirley D. Viteri, Amy T. Waldman, Elizabeth M. Wallis, Daniel A. Weiser, Jessica Wen, Deborah Whitney, Jennifer J. Wilkes, Kamillah Wood, Courtney J. Wusthoff, Joyce Yang, Mark R. Zonfrillo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d2427243626be50e8b3758861a59d8cf
https://doi.org/10.1016/b978-1-4377-1155-4.00136-x

Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.

Autor: Tung, Joanna Yuet-ling¹ (AUTHOR), Lai, Sophie Hon Yu² (AUTHOR), Au, Sandy Leung Kuen³ (AUTHOR), Yeung, Kit San² (AUTHOR), Kan, Anita Sik Yau³ (AUTHOR), Loong, Florence⁴ (AUTHOR), DeLeón, Diva D.^5,6 (AUTHOR), Kalish, Jennifer M.^6,7,8 (AUTHOR), Ganguly, Arupa⁸ (AUTHOR), Chung, Brian Hon Yin² (AUTHOR) bhychung@hku.hk, Chan, Kelvin Yuen Kwong³ (AUTHOR) cyk400@ha.org.hk

Publikováno v: International Journal of Pediatric Endocrinology. 7/10/2020, Vol. 2020 Issue 1, p1-6. 6p. 1 Color Photograph, 1 Chart, 1 Graph.