Results 111 to 120 of about 10,815 (245)
Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism
American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 205-214, January 2026.ABSTRACT
Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...Russell Stewart, Kimberly M. Ezell, Deanna S. Bell, Brian Corner, Ashley McMinn, Joy D. Cogan, Rizwan Hamid, Lynette Rives, John A. Phillips III, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A. Ladha, Claudia Soler‐Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B. Sheedy, Undiagnosed Diseases Network, Aaron Quinlan, Abdul Elkadri, Adeline Vanderver, Adriana Rebelo, Alan H. Beggs, Albert R. La Spada, Alden Huang, Alex Paul, Alexander Miller, Ali Al‐Beshri, Alistair Ward, Allen Bale, Allyn McConkie‐Rosell, Alyssa A. Tran, Andrea Gropman, Andres Vargas, Andrew B. Crouse, Andrew Stergachis, Anna Hurst, Anna Raper, Arjun Tarakad, Ashley Andrews, Ashley McMinn, Ashok Balasubramanyam, Barbara N. Pusey Swerdzewski, Beatriz Anguiano, Ben Solomon, Beth A. Martin, Bianca E. Russell, Brandon M Wilk, Breanna Mitchell, Brendan C. Lanpher, Brendan H. Lee, Brent L. Fogel, Brett Bordini, Brett H. Graham, Brian Corner, Brianna Tucker, Bruce Korf, Calum A. MacRae, Camilo Toro, Cara Skraban, Carlos A. Bacino, Carol Oladele, Caroline Hendry, Carson A. Smith, Cecilia Esteves, Changrui Xiao, Chloe M. Reuter, Christine M. Eng, Chun‐Hung Chan, Colleen E. Wahl, Corrine K. Welt, Cynthia J. Tifft, Dana Kiley, Daniel J. Rader, Daniel Wegner, Danny Miller, Daryl A. Scott, Dave Viskochil, David A. Sweetser, David R. Adams, Deborah Barbouth, Deepak A. Rao, Devin Oglesbee, Devon Bonner, Donald Basel, Donna Novacic, Dustin Baldridge, Edward Behrens, Edwin K. Silverman, Elaine Seto, Elijah Kravets, Elisabeth Rosenthal, Elizabeth A Worthey, Elizabeth A. Burke, Elizabeth Blue, Elizabeth C. Chao, Elizabeth L. Fieg, Ellen F. Macnamara, Elsa Balton, Emily Glanton, Emily Shelkowitz, Emily Wang, Eric Allenspach, Eric Klee, Eric Vilain, Erin Conboy, Erin E. Baldwin, Erin McRoy, Esteban C. Dell’Angelica, Euan A. Ashley, F. Sessions Cole, Filippo Pinto, Frances High, Francesco Vetrini, Francis Rossignol, Francisco Bustos, Fuki M. Hisama, Gabor Marth, Gail P. Jarvik, Gary D. Clark, George Carvalho, Gerard T. Berry, Ghayda Mirzaa, Giorgio Sirugo, Gonench Kilich, Guney Bademci, Hector Rodrigo Mendez, Heidi Wood, Herman Taylor, Holly K. Tabor, Hongzheng Dai, Hsiao‐Tuan Chao, Hua Xu, Hugo J. Bellen, Hui Zhang, Ian Glass, Ian R. Lanza, Ingrid A. Holm, Isaac S. Kohane, Isum Ward, Ivan Chinn, J. Carl Pallais, Jacinda B. Sampson, James P. Orengo, James Verbsky, Jared Sninsky, Jason Hom, Jason Schend, Jennefer N. Kohler, Jennifer E. Posey, Jennifer Morgan, Jennifer Schymick, Jennifer Wambach, Jessica Douglas, Jiayu Fu, Jill A. Rosenfeld, Jimann Shin, Joan M. Stoler, Joanna M. Gonzalez, John A. Phillips, John Carey, John E. Gorzynski, John J. Mulvihill, Joie Davis, Jonathan A. Bernstein, Jordan Whitlock, Jose Abdenur, Joseph Loscalzo, Joy D. Cogan, Julian A. Martínez‐Agosto, Julie McCarrier, Justin Alvey, Kahlen Darr, Kaitlin Callaway, Kathleen A. Leppig, Kathleen Sullivan, Kathy Sisco, Kathyrn Singh, Katrina Dipple, Kayla M. Treat, Kelly Hassey, Kelly Schoch, Kevin S. Smith, Khurram Liaqat, Kim Worley, Kimberly Ezell, Kimberly LeBlanc, Kumarie Latchman, Lance H. Rodan, Laura Keehan, Laura Pace, Laurel A. Cobban, Lauren Blieden, Lauren C. Briere, Lauren Jeffries, Laurens Wiel, Layal F. Abi Farraj, Leoyklang Petcharet, LéShon Peart, Lili Mantcheva, Lilianna Solnica‐Krezel, Lindsay C. Burrage, Lindsay Mulvihill, Lisa Schimmenti, Lisa T. Emrick, Lorenzo Botto, Lorraine Potocki, Lynette Rives, Lynne A. Wolfe, Maija‐Rikka Steenari, Manish J. Butte, Margaret Delgado, María José Ortuño Romero, Maria T. Acosta, Marie Morimoto, Mariko Nakano‐Okuno, Mark Gerstein, Mark Wener, Marla Sabaii, Martha Horike‐Pyne, Martin G. Martin, Martin Rodriguez, Matt Velinder, Matthew Coggins, Matthew Might, Matthew T. Wheeler, MayChristine V. Malicdan, Megan Bell, Meghan C. Halley, Melissa Walker, Mia Levanto, Michael Bamshad, Michael F. Wangler, Michael Muriello, Michael Zimmermann, Michele Spencer‐Manzon, Miranda Leitheiser, Mohamad Mikati, Mohamad Saifeddine, Monika Weisz Hubshman, Monkol Lek, Monte Westerfield, Mustafa Tekin, Nada Derar, Naghmeh Dorrani, Neil H. Parker, Neil Hanchard, Nicholas Borja, Nicola Longo, Nicole M. Walley, Nitsuh K. Dargie, Odelya Kaufman, Oguz Kanca, Orpa Jean‐Marie, Page C. Goddard, Paolo Moretti, Patricia A. Ward, Patricia Dickson, Paul Berger, Paul G. Fisher, Pengfei Liu, Peter Byers, Pinar Bayrak‐Toydemir, Precilla D’Souza, Queenie Tan, Rachel A. Ungar, Rachel Li, Rachel Mahoney, Ramakrishnan Rajagopalan, Raquel L. Alvarez, Rebecca C. Spillmann, Rebecca Ganetzky, Rebecca Overbury, Rebekah Barrick, Richard A. Lewis, Richard L. Maas, Rizwan Hamid, Rong Mao, Ronit Marom, Rosario I. Corona, Runjun Kumar, Russell Butterfield, Sanaz Attaripour, Sandesh Nagamani, Sara Emami, Seema R. Lalani, Serena Neumann, Seth Perlman, Shamika Ketkar, Shamil R. Sunyaev, Shilpa N. Kobren, Shinya Yamamoto, Shrikant Mane, Shruti Marwaha, Sirisak Chanprasert, Stanley F. Nelson, Stephan Zuchner, Stephanie Bivona, Stephanie M. Ware, Stephen B Montgomery, Stephen Pak, Steven Boyden, Suha Bachir, Surendra Dasari, Susan Korrick, Suzanne Sandmeyer, Tahseen Mozaffar, Tammi Skelton, Tanner D Jensen, Tarun KK Mamidi, Taylor Beagle, Taylor Maurer, Teodoro Jerves Serrano, Terra R. Coakley, Thomas Cassini, Thomas J. Nicholas, Timothy Schedl, Tiphanie P. Vogel, Vaidehi Jobanputra, Valerie V. Maduro, Vandana Shashi, Vasilis Vasiliou, Virginia Sybert, Vishnu Cuddapah, Wendy Introne, Wendy Raskind, Willa Thorson, William A. Gahl, William E. Byrd, William J. Craigen, Winston Halstead, Yan Huang, Yigit Karasozen, Yong‐Hui Jiang, Thomas Cassini +336 morewiley +1 more source2018 in review: gynecologic cancer insights
Brazilian Journal of Oncology, 2018 Gynecologic cancers constitute an important burden of disease around the world. Estimates from GLOBOCAN 2018 reveals approximately 1,247,300 incident casesand 596,000 related deaths of cancers of the uterine cervix, corpus uteri, and ovarian, annually ...Eduardo Paulino, Aknar F.C. Calabrich, Andrea P.G. Guimarães, Andreia C. Melo, Daniela Freitas, Fernando C. Maluf, Lilian D. Faroni, Marcelo A. Vieira, Reitan Ribeiro, Angelica Nogueira-Rodrigues +9 moredoaj +1 more sourceOvarian Ectopic Pregnancy at 41‐Week Gestation Age: A Case Report
Clinical Case Reports, Volume 14, Issue 1, January 2026.Ultrasound demonstrates an empty uterus with the fetal head outside the cavity (A). CT confirms an extra‐uterine fetus originating from the left adnexa (B). ABSTRACT
Ovarian ectopic pregnancy is an exceptionally rare entity, typically diagnosed in the first trimester following rupture. Progression to term is extraordinarily uncommon and associated with Yusuph Mwidibo, Fredrick Bahati Mbise, Abitalis Mayengela, Rafiki Mjema, Nasra Batchu, Bariki Mchome, Joachim Magoma, Alex Mremi +7 morewiley +1 more sourceMolecular Landscape of TP53/RB1 Co‐Altered Tumors Uncovers Emerging Therapeutic Vulnerabilities
Genes, Chromosomes and Cancer, Volume 65, Issue 1, January 2026.ABSTRACT Background
Although TP53 and RB1 co‐alterations play critical roles in promoting malignant development and progression, specific inhibitors targeting this co‐alteration are lacking. We performed a pan‐cancer analysis to characterize the biology of TP53/RB1 co‐alterations and identify therapeutic strategies.Xuetao Li, Meifeng Ye, Xiaomei Huang, Zhong‐Yin Huang, Juan Zhu, Zipeng He, Zhuxiang Zhao, Jun Hou, Shuquan Wei +8 morewiley +1 more sourceFibroids and pregnancy
International Journal of Gynecology &Obstetrics, Volume 172, Issue 1, Page 51-58, January 2026.Abstract
The prevalence of uterine fibroids in pregnancy varies between 1.6% and 10.7%. Pregnancies involving uterine fibroids are generally uncomplicated. However, complications can occur, particularly in cases of multiple fibroids, when the fibroids are larger than 5 cm, or when they are located in the lower uterine segment.Diana Ramasauskaite, Nikhil Purandare, Ivonne Diaz, Greta Kvederaite‐Budre, Titus K. Beyuo, Jolly Beyeza‐Kashesya, Bo Jacobsson +6 morewiley +1 more sourcePressure-dependent hydrometra dimensions in hysteroscopy [PDF]
, 2018 Aim: To investigate the relation between intrauterine pressures and volumes for virtual-reality-based surgical training in hysteroscopy. Material and methods: Ten fresh extirpated uteri were insufflated by commercial hysteroscopy pump and imaged by ...Bajka, Michael, Fischer, Hans, Kunz, Juerg, Niederer, Peter, Székely, Gábor, Weiss, Stephan +5 morecore Incidence of Retained Products of Conception Following Hormone Replacement Versus Natural Cycles in Frozen Embryo Transfer
Reproductive Medicine and Biology, Volume 25, Issue 1, January/December 2026.ABSTRACT Purpose
This study examined whether the incidence of retained products of conception (RPOC) differs between hormone replacement cycles (HRC) and natural ovulation cycles (NC) in frozen–thawed embryo transfer (FET) pregnancies. Methods
We retrospectively analyzed 425 clinical pregnancies following FET at a single center from 2017 to 2021 ...Akiko Shimada, Yoshikazu Kitahara, Mitsuo Obara, Akiko Suto, Nami Tateishi, Misato Motegi, Jun Okaniwa, Akira Iwase, Kiyoshi Kamioka +8 morewiley +1 more source
