Results 161 to 170 of about 62,388 (273)

Dedicated First‐Trimester Anomaly Scan in a National Prenatal Screening Program and Timing of Diagnosis: The Prospective IMITAS Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 7, Page 1373-1380, June 2026.
ABSTRACT Objective To determine the diagnostic yield of a nationally implemented first‐trimester anomaly scan (FTAS), compared to standard obstetric care with a second‐trimester anomaly scan. Design Prospective observational cohort study. Setting Nationwide prenatal screening program in the Netherlands.
Kim Bronsgeest, Eline E. R. Lust, Lidewij Henneman, Neeltje Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Nan van Geloven, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Elisabeth van Leeuwen, Gwendolyn T. R. Manten, Eva Pajkrt, Mireille N. Bekker, Monique C. Haak, the IMITAS study group, Eline S. van den Akker, Marcel van Alphen, Jelle H. Baalman, Babette A. M. Braams‐Lisman, Addy P. Drogtrop, Katja de Graaff, Anjoke J. M. Huisjes, Marloes E. van Huizen, Piet Hummel, Els A. P. de Jong, Ineke Krabbendam, Simone Lunshof, Marinka S. Post, Robbert J. P. Rijnders, Eva Stekkinger, Floortje Vlemmix, Tatjana Vogelvang, Karlijn C. Vollebregt, Sabina de Weerd, Lia Wijnberger, Wim J. van Wijngaarden   +38 more
wiley   +1 more source

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review. [PDF]

World J Methodol
Tsirikos AI, Jain A, Ahuja K.
europepmc   +1 more source

Diagnosing Systemic Mastocytosis: State of the Art

International Journal of Laboratory Hematology, Volume 48, Issue 3, Page 551-560, June 2026.
ABSTRACT With the advent of effective multikinase and selective tyrosine kinase inhibitors in systemic mastocytosis, diagnosing this rare disease has been critical to improving patient morbidity and mortality. This state‐of‐the‐art review interprets the international diagnostic criteria, including differences between the WHO 5th edition classification ...
Anton Rets, Tracy I. George
wiley   +1 more source

Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis. [PDF]

Ann Med
Wang L, Zhang Y, Zheng F, Dong H, Zhu X, Jia C, Zhang B.   +6 more
europepmc   +1 more source

RIPK4 function interferes with melanoma cell adhesion and metastasis

Molecular Oncology, Volume 20, Issue 5, Page 1115-1139, May 2026.
RIPK4 promotes melanoma growth and spread. RIPK4 levels increase as skin lesions progress to melanoma. CRISPR/Cas9‐mediated deletion of RIPK4 causes melanoma cells to form less compact spheroids, reduces their migratory and invasive abilities and limits tumour growth and dissemination in mouse models.
Norbert Wronski, Sławomir Lasota, Ewelina Madej, Anna A. Brożyna, Małgorzata Szczygieł, Agnieszka Harazin‐Lechowska, Jan Czerbniak, Janusz Rys, Jaroslaw Czyz, Agnieszka Wolnicka‐Glubisz   +9 more
wiley   +1 more source

Case Report: Constraint led strength and conditioning for Paralympic throwers with skeletal dysplasia. [PDF]

Front Sports Act Living
Judge LW, Garcia-Carrillo E.
europepmc   +1 more source

Cell-free fetal DNA: the new tool in fetal medicine. [PDF]

, 2014
Chitty, LS, Everett, TR
core   +1 more source

FGFR Like1 drives esophageal cancer progression via EMT, PI3K/Akt, and notch signalling: insights from clinical data and next‐generation sequencing analysis

FEBS Open Bio, Volume 16, Issue 5, Page 979-999, May 2026.
Clinical analysis reveals significant dysregulation of FGFRL1 in esophageal cancer (EC) patients. RNAi‐coupled next‐generation sequencing (NGS) and in vitro study reveal FGFRL1‐mediated EC progression via EMT, PI3K/Akt, and Notch pathways. Functional assays confirm its role in tumor growth, migration, and invasion.
Aprajita Srivastava, Anoop Saraya, Deepak Gunjan, Rinu Sharma   +3 more
wiley   +1 more source

The intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II. [PDF]

Cell Commun Signal
Fecher-Trost C, Gehl AL, Trunk A, Hellmich J, Wesely C, Löhr H, Buchholz S, Cole M, Beck A, Meyer MR, Wissenbach U.   +10 more
europepmc   +1 more source

Skeletal Dysplasias [PDF]

Journal of Medical Genetics, 1975
openaire   +1 more source