Results 161 to 170 of about 354,714 (311)

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou   +6 more
wiley   +1 more source

Association of Pulmonary Artery Compliance and Adverse Cardiac Events. [PDF]

open access: yesJACC Adv
Mounsey LA   +10 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan   +4 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

Evaluation of pulmonary artery pressure in the aged population [PDF]

open access: bronze, 2018
Mona Rayan   +3 more
openalex   +1 more source

Is the pulmonary artery to aorta ratio a prognostic indicator in acute exacerbation of COPD? [PDF]

open access: yesBMC Pulm Med
Tomas G   +6 more
europepmc   +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

Therapeutic pulmonary artery stenting for metastatic bronchial carcinoid

open access: green, 2013
Daniel B F Vawdrey   +3 more
openalex   +2 more sources

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