Results 161 to 170 of about 305,626 (215)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Efficacy of Local Bupivacaine Injection of Postoperative Pain in Endoscopic Sinus Surgery

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Regional anesthesia is effective in alleviating postoperative pain and reducing the requirement for systemic pain medications. However, optimal postoperative pain management in endoscopic sinus surgery (ESS) remains challenging.
Wiracha Leewannapasai   +4 more
wiley   +1 more source

Identification of ferroptosis‐related genes involved in chronic obstructive pulmonary disease based on bioinformatics analysis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The design of the entire paper. Green part represents the bioinformatics analysis approach. Yellow part represents the ideas of animal experiment. Abstract Background Chronic obstructive pulmonary disease (COPD) is a type of chronic respiratory disease.
Xuejing Luan   +5 more
wiley   +1 more source

New approaches to treating chronic obstructive pulmonary disease with Colla corii asini

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Colla corii asini improves chronic obstructive pulmonary disease (COPD) treatment through anti‐inflammatory, antioxidant, immune‐modulatory, and lung‐nourishing effects, addressing current therapeutic challenges via multitarget mechanisms. Abstract Chronic obstructive pulmonary disease (COPD) is one of the leading causes of death and disability ...
Wenchao Zhang   +5 more
wiley   +1 more source

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