Results 181 to 190 of about 5,873,224 (308)

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

The Relationship is the Intervention: Listening to Adults With Congenital Heart Disease. [PDF]

Circulation
Agarwal A, Valente J, Alano L.
europepmc   +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

Placental immunopathology and congenital transmission of Zika virus and <i>Trypanosoma cruzi</i>: comparative mechanisms, immune disturbances, and potential co-infection scenarios. [PDF]

Front Immunol
Rodriguez-Salazar CA, Recalde-Reyes DP, Garg NJ, Giraldo MI.   +3 more
europepmc   +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

Congenital Diseases of the Eye

International Journal of Clinical Practice, 1953
openaire   +2 more sources

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

How Congenital Anatomy Changes the Mental Map for Transseptal Puncture. [PDF]

JACC Case Rep
Mizoue A, Aronis K.
europepmc   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

No time for delay: a complicated case of infective endocarditis in a young patient with congenital heart disease. [PDF]

Br J Cardiol
Lankaputhra M, Caldaroni F, Lee MG.
europepmc   +1 more source