Results 171 to 180 of about 1,722,927 (292)

Proteomic Analysis of Golden Sputum Reveals Pulmonary Complement Activation During Acute Chest Syndrome in Children With Sickle Cell Disease

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Acute chest syndrome (ACS) is one of the most common severe complications of sickle cell disease (SCD). In recent years, a major role of inflammation and innate immunity has been evidenced, but ACS pathophysiology remains incompletely understood, and therapeutic options are limited.
Slimane Allali   +14 more
wiley   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

open access: yesAmerican Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova   +10 more
wiley   +1 more source

Introducing AI & Innovation

open access: yes
AI &Innovation, EarlyView.
Mirko Farina   +7 more
wiley   +1 more source

Commentary on Notification and Recordkeeping of Occupational Mesothelioma in India

open access: yesAmerican Journal of Industrial Medicine, EarlyView.
ABSTRACT In India, some occupational diseases are notifiable under the Mines Act, 1952, and the Factories Act, 1948. Mesothelioma, primarily attributable to asbestos exposure, has been listed specifically as one of the notifiable diseases under the Mines Act, 1952, and is notifiable under the category of occupational cancer in the Factories Act, 1948 ...
Raja Singh, Arthur L. Frank
wiley   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani   +17 more
wiley   +1 more source

A Diagnostic Algorithm for Reconstructing the Direction of Gunshots Using OsiriX and Maya in Living Patients: A Forensic Radiology Approach. [PDF]

open access: yesDiagnostics (Basel)
Malta G   +8 more
europepmc   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

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