Results 121 to 130 of about 171,735 (299)

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

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Congenital malformations [PDF]

Postgraduate Medical Journal, 1967
openaire   +4 more sources

Structure of congenital malformations in Kursk Region in 2014 and ways of optimization of diagnostic

Сеченовский вестник, 2016
The article discusses the structure and risk factors of congenital malformations in newborns in Kursk region on the basis of recent data on congenital malformations and hereditary diseases prevention.
A. I. Yuzbasheva, A. V. Khardikov
doaj  

Prevalence and pattern of congenital heart disease among neonates in Gorgan, Northern Iran (2007-2008) [PDF]

, 2011
Objective: Congenital heart disease (CHD) is the most common congenital anomaly newborns. The aim of this longitudinal, hospital-based study was to evaluate the prevalence and pattern of CHD among Iranian newborns in Gorgan, Northern Iran. Methods: 11739
Golalipour, M.J., Mirfazeli, A., Nikyarspi-Sup, B., Qourbani, M., Sedehi, M.   +4 more
core  

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

Iterative Segmentation from Limited Training Data: Applications to Congenital Heart Disease

, 2018
We propose a new iterative segmentation model which can be accurately learned from a small dataset. A common approach is to train a model to directly segment an image, requiring a large collection of manually annotated images to capture the anatomical ...
C Payer, C Wang, DF Pace, I Goodfellow, JM Wolterink, L Yu, M Sonka, O Ronneberger, R Williams, X Zhuang, Y Zhou   +10 more
core   +1 more source

Morphological and morphometric aspects of the equine aortic valve: New insights for comparative studies in mammals

The Anatomical Record, EarlyView.
Abstract New data on the equine aortic valve obtained using advanced techniques is especially important given the greater availability of animal models for translational research. Here we characterized the morphological and morphometric aspects of the equine aortic valve from 60 healthy hearts collected at equine abattoirs.
Vitor Pires Pereira, Victoria Brondani de Oliveira, Carlos Eduardo Seyfert, Luciano de Morais‐Pinto   +3 more
wiley   +1 more source

Congenital Malformations

Journal of Hand Surgery, 1990
L Chitty, R M Winter
openaire   +4 more sources

In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population

Egyptian Journal of Medical Human Genetics
Background Ehlers–Danlos syndrome (EDS), osteogenesis imperfecta (OI), and cutis laxa (CL) are three rare and heterogeneous connective tissue disorders.
Teymoor Khosravi, Karim Naghipoor, Fatemeh Vaghefi, Ali Mohammad Falahati, Morteza Oladnabi   +4 more
doaj   +1 more source