Results 111 to 120 of about 22,914 (233)

Outcome of Couples with Reciprocal Translocation Carrier Undergoing the First Preimplantation Genetic Testing Cycles

Reproductive and Developmental Medicine, 2018
Background: Reciprocal translocation (RCP) causes male infertility and female recurrent pregnancy loss. Male and female carriers have different responses to meiotic disturbances. Gender difference in outcomes of the RCP couples undergoing preimplantation
Cai-Xia Lei, Shuo Zhang, Hai-Yan Sun, Sai-Juan Zhu, Jing Zhou, Jing Fu, Yi-Juan Sun, Jun-Ping Wu, Yue-Ping Zhang, Xiao-Xi Sun   +9 more
doaj   +1 more source

PREIMPLANTATION GENETIC TESTING: 30 years of preimplantation genetic testing [PDF]

Reproduction, 2020
openaire   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Transformed but Not Cured: The Ethics of Describing Gene‐Editing Therapy for Sickle Cell Disease

Hastings Center Report, Volume 56, Issue 3, Page 9-14, May–June 2026.
Abstract In December 2023, the U.S. Food and Drug Administration approved gene‐editing therapies as sickle cell disease treatments. Such approvals for gene‐editing not only mark radical scientific innovations for populations living with sickle cell disease (SCD) across the United States but also generate an expectation of a potential cure—the end or ...
Jada Wiggleton‐Little, Shameka Poetry Thomas, Kristin Walters, Consuela Albright   +3 more
wiley   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Chronic Pain: Epidemiology, Pathophysiology, and Clinical Management

MedComm, Volume 7, Issue 5, May 2026.
The multidimensional nature of chronic pain is illustrated through four interconnected domains. (Left) Epidemiology and Global Burden: Chronic pain affects approximately one in five individuals globally, contributing to a rising trend in disability‐adjusted life years (YLDs) and a significant socioeconomic impact.
Zhihao Shang, Zijiao Tian, Zhaoquan Wang, Zerui Yang, Ziyao Wang, Zikang Wang, Ziqing Wang, Xingyuan He, Yu Yan, Yuanfeng Gong, Siyuan Xu, Xinyi Li, Guihua Tian   +12 more
wiley   +1 more source

Primary Coenzyme Q10 Deficiency [PDF]

, 2017
open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara, Navas, P., Salviati, Leonardo, Trevisson, Eva   +3 more
core  

Preimplantation genetic testing: A narrative review

Porto Biomedical Journal
Abstract Preimplantation genetic testing (PGT) is a diagnostic procedure that has become a powerful complement to assisted reproduction techniques. PGT has numerous indications, and there is a wide range of techniques that can be used, each with advantages and limitations that should be considered before choosing the more adequate one.
Sofia L. E. Fernandes, Filipa A. G. de Carvalho   +1 more
openaire   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Sci‐Fi Parenthood and the End of Love

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