Evolving growth hormone deficiency: proof of concept

Autor: Sri Nikhita Chimatapu, Swathi Sethuram, Julie G. Samuels, Alexandra Klomhaus, Cassie Mintz, Martin O. Savage, Robert Rapaport

Publikováno v: Frontiers in Endocrinology, Vol 15 (2024)

IntroductionWe present the evolution of GHD in adolescent males with persistent growth failure, in whom the diagnosis was established after a second GH stimulation test (GST).MethodsWe performed a retrospective chart review of children who presented

Externí odkaz: https://doaj.org/article/fd3b49df2b7449ac8f6bf7ffd9848c0c

PMON316 Novel Mutation Causing Pseudohypoaldosteronism Type 1 and Transient Hypercalcemia: A Patient Report

Autor: Vickie Wu, Robert Rapaport, Cassie Mintz, Mabel Yau

Publikováno v: Journal of the Endocrine Society. 6:A625-A625

Background Autosomal dominant pseudohypoaldosteronism Type 1 (PHA-1) is a salt-wasting syndrome due to mutation in the renal mineralocorticoid receptor. Here, we report an infant with a novel mutation in NR3C2 causing PHA and associated with transien

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1a470257ada08232194a0f9a3ed42b20
https://doi.org/10.1210/jendso/bvac150.1296

EVOLVING GROWTH HORMONE DEFICIENCY: RESPONSE TO TREATMENT

Autor: Cassie Mintz, Sri Nikhita Chimatapu, Robert Rapaport, Swathi Sethuram

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cf1c89f5b0fcf62bcd4566cef699b218
https://doi.org/10.26226/morressier.5ebc4ac6ffea6f735881a4bd

Broad spectrum of clinical presentation in EARS2 beyond typical 'leukoencephalopathy with thalamus and brain stem involvement'

Autor: Bryn D. Webb, Pankaj Prasun, Thomas P. Naidich, Emalyn E Cork, Cassie Mintz

Publikováno v: J Neurol Sci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef2cbc96304044ae45cbf5445989aa70
https://europepmc.org/articles/PMC7373422/

The Congenital Heart Disease Genetic Network Study: rationale, design, and early results

Autor: Jennifer Garbarini, Dianne Gallagher, Meghan K Mac Neal, Michelle Olive, Josée Dupuis, Emma Marquez, Jessica Tusi, Bruce D. Gelb, Mike Italia, Laura E. Mitchell, Roger E. Breitbart, Elaine Mardis, Lynn A. Sleeper, Gail D. Pearson, Nhu Tran, Cassie Mintz, Elizabeth Goldmuntz, Rosalind Korsin, Kristin E. Burns, Joel H. Saltz, Inga Peter, Denise Guevara, Stacy Woyciechowski, Howard S. Seiden, Hakon Hakonarson, Christine Beiswanger, Hector R. Wong, Steven D. Colan, Kimberly Dandreo, James Bristow, Davina Etwaru, Ellen Rosenberg, Ariel Julian, Jeffrey Botkin, George A. Porter, Richard B. Kim, Jennie Kline, Peter White, Christina Kendziorski, Barbara McDonough, Ismee A. Williams, Nancy Stellato, Ravi Sachidanandam, Clinical Sites, Vidu Garg, Minmin Lu, Katrina Celia, John E. Deanfield, Charlene Schramm, Dorothy Warburton, Juan Pablo Kaski, Amy E. Roberts, Maria M. Brooks, Abigail Wilpers, Martina Brueckner, Christine E. Seidman, Alyssa Lanz, Jeffrey C. Murray, Dorit Berlin, Jonathan R. Kaltman, Todd Evans, Judith Geva, Karen Flack, Sharon Edman, Angela Monafo, Jane Newburger, Jonathan G. Seidman, Angela Romano-Adesman, Eileen Taillie, Laura Mercer-Rosa, Janice Stryker, Jaswinder Kaur Sond, Nancy Cross, Sharon Tennstedt, Roslyn Yee, Michael S. Watson, Danielle Awad, Dorota Gruber, Richard P. Lifton, Alessandro Giardini, Wendy K. Chung

Publikováno v: Circulation research. 112(4)

Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6408621cef3c747ad56aa57c705bceb
https://pubmed.ncbi.nlm.nih.gov/23410879