Results 211 to 220 of about 3,795,418 (278)

Cerebral Small Vessel Disease in Immune‐Mediated Thrombotic Thrombocytopenic Purpura Patients During the Acute Phase and Disease Remission

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Immune‐mediated thrombotic thrombocytopenic purpura (iTTP) is a life‐threatening thrombotic microangiopathy characterized by acute neurological manifestations and long‐term sequelae related to microvascular brain injury. Cerebral small vessel disease (cSVD), detectable on MRI through lacunes, microbleeds, white matter hyperintensities, and ...
Addolorata Truma   +13 more
wiley   +1 more source

Use of long-term underwater camera surveillance to assess the effects of the largest Amazonian hydroelectric dam on fish communities. [PDF]

open access: yesSci Rep
Schmid K   +9 more
europepmc   +1 more source

Affected Persons in Laboratory Exposures to Human Pathogens and Toxins in Canada, 2016–2024: A Sector‐Specific Analysis

open access: yesAmerican Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Exposures to human pathogens and toxins in licensed facilities in Canada have been monitored by a federal surveillance system since 2015, yet the affected persons (APs) in these incidents remain uncharacterized. This study comprehensively describes APs, highlighting sector‐specific patterns and trends over time.
Emily F. Tran   +4 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas   +6 more
wiley   +1 more source

Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos   +11 more
wiley   +1 more source

Marine protected areas promote stability of reef fish communities under climate warming. [PDF]

open access: yesNat Commun
Benedetti-Cecchi L   +14 more
europepmc   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi   +10 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

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