Results 221 to 230 of about 391,145 (293)

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

open access: yesClinical Genetics, EarlyView.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho   +23 more
wiley   +1 more source

Pulmonary Atresia Intact Ventricular Septum With Anomalous Left Coronary Artery From Pulmonary Artery. [PDF]

open access: yesAnn Thorac Surg Short Rep
Norbisrath KS   +7 more
europepmc   +1 more source

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

open access: yesClinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob   +15 more
wiley   +1 more source

A Specific tRNA Half, 3'tiRNA‐GlyGCC, Regulates Hypoxic Pulmonary Artery Smooth Muscle Cell Proliferation via Myrf‐Mediated Endoplasmic Reticulum Stress

open access: yesCell Proliferation, EarlyView.
A schematic diagram illustrating how 3′tiRNA‐GlyGCC promotes the endoplasmic reticulum stress (ERS) and proliferation in hypoxic pulmonary artery smooth muscle cells (PASMCs) by inhibiting the expression of myelin regulatory factor (Myrf), ultimately leading to pulmonary hypertension (PH).
Lixin Zhang   +11 more
wiley   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng   +14 more
wiley   +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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