Results 121 to 130 of about 449,800 (228)

Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis

Taiwanese Journal of Obstetrics & Gynecology
Objective: Ichthyosis are complex skin diseases, characterized by hyperkeratosis with various degrees of thickening, desquamation, and erythema. The prenatal diagnosis of ichthyosis is challenged due to the clinical and genetic heterogeneity and the late-
Ting-Yu Chang, Zhu Wei Lim, Yi-Tzu Chu, Wan-Ju Wu, Mei-Hui Lee, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Ho, Jin-Chung Shih, Gwo-Chin Ma, Ming Chen   +11 more
doaj   +1 more source

Sci‐Fi Parenthood and the End of Love

Journal of Social Philosophy, EarlyView.
Daniela Cutas
wiley   +1 more source

Healthcare professionals' perspectives on supporting individuals with NF1 during pregnancy and decision‐making processes

Journal of Genetic Counseling, Volume 34, Issue 6, December 2025.
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition characterized by highly variable presentation, making reproductive decision‐making and pregnancy care particularly complex. While previous research has focused largely on clinical outcomes, little is known about how healthcare professionals (HCPs) provide care and ...
Gamze Kaplan, Debbie M. Smith, Ming Wai Wan, Emma Burkitt‐Wright, Shruti Garg   +4 more
wiley   +1 more source

The Role of Ventricular Arrhythmias Inducibility in Arrhythmic Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy: A Meta‐Analysis of Observational Studies

Journal of Arrhythmia, Volume 41, Issue 6, December 2025.
EPS inducibility can be a valuable tool for arrhythmic risk stratification purposes in ARVC patients. It can be used as a component of multiparametric risk scores for risk stratification purposes instead of a stand‐alone decision‐making tool. ABSTRACT Background The identification of arrhythmogenic right ventricular cardiomyopathy (ARVC) patients at ...
George Bazoukis, Athanasios Saplaouras, Nikhil Pillai, Polyxeni Efthymiou, Sharen Lee, Dimitrios Sfairopoulos, Panagiotis Korantzopoulos, Gary Tse, Tong Liu, Konstantinos P. Letsas   +9 more
wiley   +1 more source

Update and new advances in fertility preservation and cancer

CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 602-629, November/December 2025.
Abstract Adolescents and young adults with a cancer diagnosis face unique challenges during treatment and into survivorship related to fertility and family building. This review provides an updated overview of the impact of cancer and its associated treatments, including novel treatments in male and female fertility.
Gwendolyn P. Quinn, Michelle Bayefsky, Brooke Cherven, Lauren V. Ghazal, Kara N. Goldman, Nina Francis Levin, Leena Nahata, Bobby Najari, Sameer Thakker, Daniel R. Greenberg, Joshua A. Halpern, Susan T. Vadaparampil   +11 more
wiley   +1 more source

Preimplantation genetic testing for aneuploidy: helpful but not a first choice

, 2022
Sachiko Ohishi, Tetsuo Otani
openalex   +2 more sources

A patient with newly diagnosed breast cancer found to have mosaic TP53 likely pathogenic variant

CA: A Cancer Journal for Clinicians, EarlyView.
Hetal D. Mistry, MacKenzie R. Adams, Charu Taneja, Lauren J. Massingham, Elizabeth H. Dibble, Kara L. Leonard, Jesse Hart, Galina G. Lagos, Mary Anne Fenton   +8 more
wiley   +1 more source

H3K27ac Is Essential for Human Naive Pluripotency Modulated by m6A‐Driven EP300 Expression

Advanced Science, Volume 12, Issue 41, November 6, 2025.
An et al. reveal H3K27ac elevation is essential for establishing and maintaining human naive pluripotency; its inhibition disrupts this state while enhancement promotes it. METTL3‐mediated m6A modification indirectly controls H3K27ac by suppressing EP300 expression. Reduced EP300 lowers H3K27ac, impeding naive pluripotency.
Chenrui An, Ke Zhong, Xiangjin Kang, Yingying Zhang, Yudan Shang, Hao Liu, Yushan Ji, Jinbei Zeng, Jiajin Lin, Long Jin, Zelong Lin, Yang Yu, Xuetao Shi, Yong Fan   +13 more
wiley   +1 more source

Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study [PDF]

, 2014
Luca Gianaroli, M. Cristina Magli, Alessandra Pomante, Anna Maria Crivello, Giulia Cafueri, Marzia Valerio, Anna Pia Ferraretti   +6 more
openalex   +1 more source

FIGO Fertility Passport: A tool for patients and their healthcare providers

International Journal of Gynecology &Obstetrics, Volume 171, Issue 2, Page 513-516, November 2025.
Abstract Infertility is a condition with significant psychological, economic, and health implications. Investigations are generally conducted by a primary healthcare provider who then refers to a specialist; however, multidisciplinary care is often required.
Elif Goknur Topcu, M. Louise Hull, Scott Nelson, Edgar Mocanu, Eytan Barnea, Dov Feldberg, Togas Tulandi, Akira Iwase, Laurie Henry, Ajey Bhardwaj, Jaideep Malhotra, Jackline Akol, Ivonne Diaz Yamal, Hrishikesh Pai, Nikhil Purandare   +14 more
wiley   +1 more source