Results 11 to 20 of about 7,382 (203)
Frontiers in Cell and Developmental Biology, 2023 The human Usher syndrome (USH) is the most common form of a sensory hereditary ciliopathy characterized by progressive vision and hearing loss. Mutations in the genes ADGRV1 and CIB2 have been associated with two distinct sub-types of USH, namely, USH2C ...
Joshua Linnert +5 more
doaj +1 more source
Selective Fetal Growth Restriction in Dichorionic Twin Pregnancies: Diagnosis, Natural History, and Perinatal Outcome. [PDF]
, 2020 This study aims to evaluate the natural history, disease progression, and outcomes in dichorionic twins with selective fetal growth restriction (sFGR) according to different diagnostic criteria and time of onset.
Antonakopoulos, N +5 more
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SOX-1 antibodies in a patient with Crohn’s disease: a case report
BMC Neurology, 2022 Background The anti-SOX-1 antibodies have been mainly associated with Lambert-Eaton Myasthenic Syndrome (LETMS) and Small-Cell Lung Cancer (SCLC). In this report, we describe the interesting case of a patient with serum anti-SOX-1 antibodies and Crohn’s ...
Ennio Polilli +9 more
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Genetic analysis for two italian siblings with usher syndrome and schizophrenia. [PDF]
, 2012 Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia.
Article Id +5 more
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Outcomes of Late Implantation in Usher Syndrome Patients
International Archives of Otorhinolaryngology, 2017 Introduction Usher syndrome (US) is an autosomal recessive disorder characterized by hearing loss and progressive visual impairment. Some deaf Usher syndrome patients learn to communicate using sign language.
Ana Cristina H. Hoshino +4 more
doaj +1 more source
Intravascular Molecular Imaging: Near-Infrared Fluorescence as a New Frontier
Frontiers in Cardiovascular Medicine, 2020 Despite exciting advances in structural intravascular imaging [intravascular ultrasound (IVUS) and optical coherence tomography (OCT)] that have enabled partial assessment of atheroma burden and high-risk features associated with acute coronary syndromes,
Haitham Khraishah +3 more
doaj +1 more source
COMPLEMENT-MEDIATED ADIPOCYTE LYSIS BY NEPHRITIC FACTOR SERA [PDF]
, 1993 Recent data indicate a previously unsuspected link between the complement system and adipocyte biology. Murine adipocytes produce key components of the alternative pathway of complement and are able to activate this pathway.
Lachmann, PJ +4 more
core +1 more source
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes. [PDF]
, 2020 Language development builds upon a complex network of interacting subservient systems. It therefore follows that variations in, and subclinical disruptions of, these systems may have secondary effects on emergent language.
1000 Genomes Project C. +71 more
core +5 more sources
Orphanet Journal of Rare Diseases, 2022 Background Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently leading to legal blindness.
Aymane Bouzidi +6 more
doaj +1 more source
Lived experiences of informal caregivers of people with chronic musculoskeletal pain: a systematic review and meta-ethnography [PDF]
, 2021 BACKGROUND: People with chronic pain often seek support from friends and family for everyday tasks. These individuals are termed informal caregivers. There remains uncertainty regarding the lived experiences of these people who care for individuals with ...
Bowlby J. +6 more
core +1 more source