Results 71 to 80 of about 1,156,853 (299)
Variation in _PNPLA3_ is associated with outcomes in alcoholic liver disease [PDF]
, 2009 Two recent genome-wide association studies have described associations of SNP variants in _PNPLA3_ with nonalcoholic fatty liver and plasma liver enzyme levels in population based cohorts.
Chao Tian +4 more
core +2 more sources
Clinical Variant of Ablepharon Macrostomia Syndrome [PDF]
Case Reports in Dermatological Medicine, 2011 Ablepharon syndrome is an extremely rare genetic problem that causes severe craniofacial deformities and numerous other abnormalities of the face, genitalia, and skin. The literature regarding this condition is scarce. We present a case of this syndrome with dental manifestations, not reported before, and discuss its characteristics in order to ...
Jose Larumbe +2 more
openaire +3 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski +9 more
wiley +1 more source
Cancer Medicine, 2021 Objective Previous research has indicated cognitive decline (CD) among testicular cancer patients (TCPs), even in the absence of chemotherapy, but little is known about the underlying pathophysiology.
Cecilie R. Buskbjerg +5 more
doaj +1 more source
A systematic review of the clinical impact of small colony variants in patients with cystic fibrosis
BMC Pulmonary Medicine, 2023 Background Cystic fibrosis (CF) is a life-limiting disorder that is characterised by respiratory tract inflammation that is mediated by a range of microbial pathogens.
Harrigan Ryan +6 more
doaj +1 more source
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research [PDF]
, 2016 Accurate variant calling in next generation sequencing (NGS) is critical to understand cancer genomes better. Here we present VarDict, a novel and versatile variant caller for both DNA- and RNA-sequencing data.
Ahdesmaki, Miika +9 more
core +2 more sources
Intravitreal GD2‐Specific Chimeric Antigen Receptor T‐Cell Therapy for Refractory Retinoblastoma
Pediatric Blood &Cancer, EarlyView.ABSTRACT Effective treatments for advanced, treatment‐resistant retinoblastoma (RB) remain limited. GD2‐specific chimeric antigen receptor (CAR) T cells show potent antitumor activity with minimal toxicity but have not previously been evaluated in RB.
Subongkoch Subhadhirasakul +13 more
wiley +1 more source
Clinical and pathogenetic variants of peptic ulcer
Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, 2013 The authors present some variants of the peptic ulcer course, with pathogenesis of the pathology being taken into account. Attention has been paid to the role of the central nervous system and of the vegetative nervous system as well as to psychosomatic ...
A. Ya. Kryukova, O. A. Kuramshina
doaj +1 more source
QQ-SNV: single nucleotide variant detection at low frequency by comparing the quality quantiles [PDF]
, 2015 Background: Next generation sequencing enables studying heterogeneous populations of viral infections. When the sequencing is done at high coverage depth ("deep sequencing"), low frequency variants can be detected.
Aerssens, Jeroen +7 more
core +4 more sources
Outcomes of Live Virus Vaccination in Patients With Vascular Anomalies Being Treated With Sirolimus
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Live vaccination in patients with vascular anomalies (VA) receiving sirolimus remains controversial due to immunosuppressive effects and theoretical risks. Procedure This single‐center retrospective study included patients with VA less than 4 years old at the start of sirolimus therapy who were incompletely vaccinated.
Svatava Merkle +5 more
wiley +1 more source