Results 171 to 180 of about 912,126 (302)

Pediatric B-Cell Acute Lymphoblastic Leukemia: Comprehensive Genomic Characterization Including SNP-Array and Analysis of Relapse Risk. [PDF]

open access: yesCancers (Basel)
Prats-Martín C   +13 more
europepmc   +1 more source

Triangulating Evidence on Serum Uric Acid and Cancer Risk: Consistent Inverse Associations With Lung Cancer

open access: yesCancer Science, EarlyView.
Using both conventional observational and Mendelian randomization (MR) analyses in the same Japanese community‐dwelling population, the evidence consistently supported an inverse association between the serum uric acid level and lung cancer risk. ABSTRACT We examined the association between serum uric acid (UA) levels and cancer incidence through a ...
Takashi Matsunaga   +26 more
wiley   +1 more source

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans

open access: yesClinical Genetics, EarlyView.
We identified a homozygous frameshift variant in KHDC4 (c.1535_1538del: (p.Lys512Argfs*8) in a consanguineous family with syndromic Retinitis Pigmentosa. Functional characterization shows aberrant protein mislocalisation from nuclear speckles to a diffuse pattern.
Asodu Sandeep Sarma   +9 more
wiley   +1 more source

Budding speciation, mitochondrial capture and introgression between surface and cave lineages in the Asellus aquaticus species complex

open access: yesCladistics, EarlyView.
Abstract Replicated pairs of ancestral and evolutionarily derived populations provide opportunities to test hypotheses about the deterministic laws of evolution. The Asellus aquaticus species complex is an invertebrate model system with several independent surface‐to‐cave transitions and a complicated and unresolved evolutionary history.
Peter Trontelj   +3 more
wiley   +1 more source

Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening. [PDF]

open access: yesBMC Med Genomics
Vidal-Folch N   +5 more
europepmc   +1 more source

Polygenic Risk Scores for Islet Autoantibody Positive Early‐Stage Type 1 Diabetes Pre‐Screening

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims To develop a sex‐aligned polygenic risk score (PRS) for early‐stage type 1 diabetes (T1D) in children without a first‐degree family history of T1D. Materials and Methods Global Single Nucleotide Polymorphism (SNP) Array was performed in 16 335 individuals without a first‐degree family history of T1D, including 13 956 newborns from the ...
Jose Zapardiel‐Gonzalo   +7 more
wiley   +1 more source

Development and application of a 10 K low-density whole-genome SNP array for chickens. [PDF]

open access: yesPoult Sci
Ma X   +7 more
europepmc   +1 more source

Equine vegetative endocarditis and vertebral osteomyelitis due to refractory Erysipelothrix rhusiopathiae infection

open access: yesEquine Veterinary Education, EarlyView.
Summary Erysipelothrix rhusiopathiae was the causative agent of vegetative endocarditis and vertebral osteomyelitis in a 24‐year‐old Irish draught gelding that presented with prolonged history of intermittent pyrexia and tachycardia. Clinical investigations revealed persistently reduced neck mobility, tachydysrhythmia and episodic pyrexia up to 41°C ...
E. Kolovou   +11 more
wiley   +1 more source

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