Results 71 to 80 of about 607,006 (296)

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Epidemiology of Congenital Anomalies in a Population-based Birth Registry in Taiwan, 2002

Journal of the Formosan Medical Association, 2009
Congenital anomalies are important medical and public health conditions. However, the occurrence rates of congenital anomalies and their risk factors are unknown in Taiwan. We used the medical-practitioner-reported birth registry in 2002 to determine the
Bing-Yu Chen, Bing-Fang Hwang, Yue-Liang Guo   +2 more
doaj   +1 more source

Aortic valve disease: Novel animal models for advancing our understanding of the underlying mechanisms

Animal Models and Experimental Medicine, EarlyView.
Due to the complex pathophysiology of aortic valve disease (AVD) and the resulting lack of effective pharmacotherapy, existing animal models are valuable research tools, but each has its own strengths and limitations. This review systematically surveys the major AVD models, compares their induction methods, pathological features, advantages and ...
Liya Hou, Xue Liu, Wangxing Hu, Xianbao Liu, Wei Zhu   +4 more
wiley   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

Epidemiology of idiopathic pulmonary fibrosis: a population registry-based study

Orphanet Journal of Rare Diseases
Background Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive respiratory rare disease characterized by an irreversible loss of lung function, with unknown etiology and poor prognosis. Methods A population registry-based study was conducted
Gorini Francesca, Santoro Michele, Pierini Anna, Cameli Paolo, Chimera Davide, Lavorini Federico, Pistelli Francesco, Rosi Elisabetta, Tavanti Laura, Tomassetti Sara, Laura Carrozzi, Bargagli Elena, Coi Alessio   +12 more
doaj   +1 more source

Monitoring of Congenital Anomalies in Latvia [PDF]

, 2014
Publisher Copyright: © 2014, Czech National Institute of Public Health. All rights reserved.Objective: This study provides a description and analysis of characteristics of the monitoring system for congenital anomalies at birth and prevalence trends in ...
Anita Villeruša, Irisa Zīle, Villeruša, Anita, Mika Gissler, Zīle, Irisa, Gissler, Mika   +5 more
core   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source

Congenital Anomalies Among Newborns in Diyala Province in 2017

Diyala Journal of Medicine, 2020
Background: Congenital anomalies or birth defects are groups of disordered of prenatal origin which can be caused by single gene defect, chromosomal disordered, multifactorial inheritance, and environmental teratogens.
Samara Mahmood Abdulhadi , Nadhim Ghazal Noaman, Shefaa Mansour Hemza   +2 more
doaj   +2 more sources