Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States

Autor: Aisha L. Siebert, Veronica Gomez-Lobo, Emilie K. Johnson, Leena Nahata, Kyle E. Orwig, Louise C. Pyle, Selma F. Witchel, Courtney Finlayson, Monica M. Laronda

Publikováno v: Frontiers in Endocrinology, Vol 13 (2023)

ObjectiveSome individuals with differences of sex development (DSD) conditions undergo medically indicated prophylactic gonadectomy. Gonads of individuals with DSD can contain germ cells and precursors and patients interested in future fertility pres

Externí odkaz: https://doaj.org/article/c418e05e6c944e369b743d60169f254c

Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination

Autor: John C Magnotto, Alessandra Mancini, Keisha Bird, Luciana Montenegro, Filiz Tütüncüler, Sidney A Pereira, Vitoria Simas, Leonardo Garcia, Stephanie A Roberts, Delanie Macedo, Melissa Magnuson, Priscila Gagliardi, Nelly Mauras, Selma F Witchel, Rona S Carroll, Ana Claudia Latronico, Ursula B Kaiser, Ana Paula Abreu

Publikováno v: The Journal of Clinical Endocrinology & Metabolism.

Context Loss-of-function mutations in the maternally imprinted genes, MKRN3 and DLK1, are associated with central precocious puberty (CPP). Mutations in MKRN3 are the most common known genetic etiology of CPP. Objective This work aimed to screen pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9e7e713e98381a0885028847295de7db
https://doi.org/10.1210/clinem/dgad151

Chronic Lymphocytic Thyroiditis and Aggressiveness of Pediatric Differentiated Thyroid Cancer

Autor: Jeffrey P. Simons, Pushpa Viswanathan, Richard M Yeker, Linwah Yip, Amber D. Shaffer, Selma F. Witchel, Sara E Monaco, Kevin P. Mollen, Umamaheswar Duvvuri

Publikováno v: The Laryngoscope. 132:1668-1674

Objectives/hypothesis Hashimoto's Thyroiditis (HT) is a common cause of hypothyroidism. Among adults with differentiated thyroid cancer (DTC), HT appears to be associated with less severe disease burden. In the absence of information regarding HT and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f19170c45a336572dc591075b188afec
https://doi.org/10.1002/lary.29908

Validity of the American College of Radiology Thyroid Imaging Reporting and Data System in Children

Autor: Kelly E. Daniels, Amber D. Shaffer, Steven Garbin, Judy H. Squires, Kevin G. Vaughan, Pushpa Viswanathan, Selma F. Witchel, Kevin P. Mollen, Linwah Yip, Sara E. Monaco, Umamaheswar Duvvuri, Jeffrey P. Simons

Publikováno v: The LaryngoscopeBIBLIOGRAPHY.

To assess the validity of the American College of Radiology Thyroid Imaging Reporting and Data System (ACR TI-RADS) for evaluating thyroid nodules in children.Patients aged19 years with thyroid nodule(s) evaluated by ultrasound (US) from 2007-2018 at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71d58031cb157d283d7d57a87e80a264
https://pubmed.ncbi.nlm.nih.gov/36250584

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( WT1 ) gene

Autor: Masomeh Askari, Svetlana A. Yatsenko, Robin Lovell-Badge, Tiphanie Merel-Chali, Balázs Gellén, Nitzan Gonen, Leila Fusee, Rana Mainpal, Mariana Costanzo, Inas Mazen, Anu Bashamboo, Anahita Mohseni Meybodi, Esperanza Berensztein, Joelle Bignon-Topalovic, Caroline Eozenou, Natalia Perez Garrido, Alicia Belgorosky, Andrea J. Berman, Roberta Migale, Ken McElreavey, Rita Bertalan, Alaa K. Kamel, Mona K. Mekkawy, Maria Sol Touzon, Priti Singh, Pablo Ramirez, Gabriela Guercio, Aleksandar Rajkovic, Mehdi Totonchi, Selma F. Witchel, Roxana Marino, John C. Schimenti, Anne Jørgensen

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩

International audience; Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in human. Among 46,XX individuals with testicular DSD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f28b185a9a5aeb46bd22dbfa6cc25dd
https://doi.org/10.1073/pnas.1921676117