Results 81 to 90 of about 35,038 (256)

Finding the GEMSS in Schools. [PDF]

, 2014
Are you the parent of a child who has a genetic condition such as Down syndrome, Fragile X, or Marfan syndrome? Have you searched for a base of knowledge that is comprehensive and reliable?
Dillon, Ann
core   +1 more source

Congenital ectopia lentis : diagnosis and treatment [PDF]

, 2012
Congenital ectopia lentis (EL) is an ocular condition, which typically causes a high grade of refractive errors, mainly myopia and astigmatism. These might be difficult to compensate for, especially in children, who might develop ametropic amblyopia ...
Rysä Konradsen, Tiina
core   +1 more source

Dissecting Shared Genetic Architecture of Thoracic Aortic Aneurysm and Aortic Related Traits and Identifying SplA/Ryanodine Receptor Domain and SOCS Box Containing 1 Involved in Smooth Muscle Phenotype Switching and Cell Senescence Through Alternative Splicing

The FASEB Journal, Volume 39, Issue 22, 30 November 2025.
The flowchart of the study. BAPN, β‐aminopropionitrile; FUMA, Functional Mapping and Annotation; GO, Gene Ontology; GWAS, genome‐wide association study; KEGG, Kyoto encyclopedia of genes and genomes; LDSC, LD score regression; MR‐JTI, mendelian randomization joint‐tissue imputation; MTAG, multi‐trait analysis of GWAS; siRNA, small interfering RNA ...
Qingyang Song, Tongxin Chu, Quan Liu, Rennan Weng, Huayang Li, Mengya Liang, Zhongkai Wu   +6 more
wiley   +1 more source

Losartan in combination with propranolol slows the aortic root dilatation in neonatal Marfan syndrome

Pediatrics and Neonatology, 2018
Neonatal Marfan syndrome, in contrast to classical Marfan syndrome, is characterized by rapidly progressive multi-valvular cardiac disease and death from congestive heart failure, typically within the first year of life.
Lu-Hang Liu, Shan-Miao Lin, Dar-Shong Lin, Ming-Ren Chen   +3 more
doaj   +1 more source

Immediate effects of submaximal effort on pulse wave velocity in patients with Marfan syndrome [PDF]

, 2010
Marfan syndrome (MS) is a dominant autosomal disease caused by mutations in chromosome 15, the locus controlling fibrillin 1 synthesis, and may exhibit skeletal, ocular, cardiovascular, and other manifestations.
Bernardelli, Graziella França, Carvalho, Antonio Carlos, Fischer, Sven C P M, Medeiros, Wladimir Musetti, Mendes, Cássia Claudino, Peres, Paulo Alberto, Servantes, Denise Maria   +6 more
core   +1 more source

Igfbp2 Downregulation in PVT‐CeA Glutamatergic Circuits Drives Neonatal Anesthesia‐Induced Fear Memory Deficits

Advanced Science, Volume 12, Issue 41, November 6, 2025.
Repeated neonatal sevoflurane exposure impairs adolescent fear memory through Igfbp2 downregulation in paraventricular thalamus‐central amygdala glutamatergic projections. Restoring Igfbp2 or activating this circuit rescues memory deficits, neuronal excitability, and spine density, identifying a precise molecular target for preventing anesthesia ...
Weiming Zhao, Ke Peng, Baojian Zhao, Xiaowen Meng, Gang Wang, Hanbing Xu, Li Deng, Xisheng Shan, Yichan Wang, Qiya Xu, Yanan Gao, Ruixia Weng, Hong Liu, Jin Tao, Huayue Liu, Shaoyong Song, Fuhai Ji   +16 more
wiley   +1 more source

Anesthetic management of a patient with Marfan syndrome and severe aortic root dilatation undergoing cholecystectomy and partial hepatic resection

Saudi Journal of Anaesthesia, 2013
Due to high mortality associated with aortic dissection, anesthetic management of patients with Marfan syndrome with severe aortic root dilation is a challenging situation.
Tanmoy Ghatak, Sukhen Samanta, Sujoy Samanta   +2 more
doaj   +1 more source

Morbidity and Mortality ofVery Low Birth Weight Infant Graduates of a Level Three Neonatal Intensive Care Unit [PDF]

, 2007
Purpose: To describe the morbidity and mortality of very low birth weight (VLBW) infant graduates of a level three neonatal intensive care unit (NICU) in a medically underserved population.
Cortes, Maria
core   +1 more source

Marfan syndrome: An eyesight of syndrome

Meta Gene, 2014
Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1).
Kumar, Ashok, Agarwal, Sarita
openaire   +2 more sources

Bronchiectasis and Marfan’s syndrome [PDF]

Postgraduate Medical Journal, 1980
Abstract Marfan’s syndrome is a rare hereditary disorder characterized by skeletal, cardiovascular and ocular abnormalities. Pulmonary abnormalities occur in approximately 10% of patients the commonest being spontaneous pneumothorax and emphysema.
M E, Foster, D R, Foster
openaire   +2 more sources