Results 121 to 130 of about 3,315,392 (318)
Correction of metabolic disorders in patients with aneurysmal intracranial hemorrhages
, 2020 Н. И. Нечипуренко +4 more
openalex +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun +2 more
wiley +1 more source
Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders +11 more
wiley +1 more source
Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison +3 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Abstract Background Intracerebral hemorrhage (ICH) remains a devastating neurological disorder with limited therapeutic options. Neural stem cell (NSC)‐based therapies have emerged as a potential regenerative approach, yet the molecular mechanisms regulating NSC behavior require further elucidation.
Wei Dai +7 more
wiley +1 more source
Hepatology, EarlyView., 2022 Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid +20 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.This study details the adaptations required to establish a long‐term anesthetic protocol in pigs. Three protocols were evaluated, with some causing malignant hyperthermia, hypoglycemia, or hemoynamic instability. The final protocol proved effective for developing a porcine AKI model requiring adequate arterial pressure maintenance.
Axel Guilpin +9 more
wiley +1 more source