Results 121 to 130 of about 387,299 (307)

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

Congenital malformations in a fetus and a newborn according to the data of Perinatal Center of the Saratov region [PDF]

Саратовский научно-медицинский журнал, 2016
The aim: to study the frequency of birth defects in Perinatal Center of the Saratov region from 2014 till 2015, the possibility of prognosing, early diagnosis and optimization of programs for the prevention and correction of congenital malformations, the
Chernenkov Yu.V., Nechaev V.N., Katkova E.M.   +2 more
doaj  

Early Endoscopic Repair of Traumatic Skull Base Dural Injuries: Challenging the Dogma of Conservative Management

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Traditional management of traumatic skull base dural injury has often favored observation and conservative therapy, despite the risk of delayed intracranial complications. This paradigm originated when operative intervention required craniotomy and carried significant morbidity.
Jessica W. Grayson, Madeline P. Bald, Lauren McLeod, Adam J. Skelton, Nicolaus D. Knight, Do‐Yeon Cho, Justin Turner, Hari Jeyarajan, Kristen O. Riley, Bradford A. Woodworth   +9 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

Zebrafish xenograft models as a fast platform for metastasis diagnosis and cisplatin response of head and neck squamous cell carcinoma

Animal Models and Experimental Medicine, EarlyView.
A zebrafish xenograft model accurately distinguishes metastatic from non‐metastatic HNSCC and recapitulates cisplatin sensitivity/resistance patterns. Using patient‐derived tumors, it predicts individual therapeutic responses, offering a rapid, clinically applicable platform for guiding personalized treatment. Abstract Background Head and neck squamous
Lu Chen, Shu Sun, Yujia Liu, Liehao Jiang, Cuiyun Wu, Ting Liu, Yujiao Zhao, Yuwei Liu, Lu Liu, Qi Wang, Xiaowei Zheng, Ping Huang   +11 more
wiley   +1 more source

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  

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

Results of the Turkish congenital malformation survey

The Turkish Journal of Pediatrics, 1999
In order to acquire data about the incidence of congenital malformations in the Turkish population, we recorded all livebirths and stillbirths at 22 university hospitals between July 1993-July 1994.
E Tunçbilek, K Boduroğlu, M Alikaşifoğlu   +2 more
doaj  

Maternal smoking and congenital malformations

, 1999
About two percent of Swedish newborn infants are born with a significant congenital malformations which is reported to the Swedish Registry of Congenital Malformations (RCM), and/or the Swedish Medical Birth Registry (MBR).
Källén, Karin
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Accuracy of pulse oximetry screening for detecting critical congenital heart disease in the newborns in rural hospital of Central India [PDF]

, 2013
Congenital cardiovascular malformations are the most common category of birth defects and responsible for mortality in the first twelve months of life.
Taksande, Amar M., Suwarnakar, K., Gadekar, A., Japzape, T., Lakhkar, Bhawna   +4 more
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