Molecular vs. Phenotypic Sexing in Red Knots [PDF]
Using a reference collection of blood samples of Red Knots (Calidris canutus) from Florida and Alaska whose sex was determined by dissection, we demonstrate that the molecular method of sexing based on the size of polymerase chain reaction (PCR) products from the CHD genes after digestion with Hae III accurately identifies gender in this species.
Baker, Allan J. +2 more
openaire +2 more sources
Guixiang Tao,1 Hua Tan,2 Jingjing Ma,1 Qian Chen1 1Institute of Pediatrics, Children’s Hospital of Nanjing Medical University, Nanjing, People’s Republic of China; 2Department of Laboratory Medicine, Children’s Hospital of Nanjing Medical University ...
Tao G, Tan H, Ma J, Chen Q
doaj
Very Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology
Background: Walker-Warburg phenotype is a severe and lethal autosomal recessive disorder, belonging to a group of congenital malformations defined as abnormal pial basement membrane formation.
R. Achiron +5 more
doaj +1 more source
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited neuropathies. The purpose of this study is to identify the clinical and genetic diversity of peripheral myelin protein 22 (PMP22) in Chinese patients with ...
Xiaoxuan Liu +4 more
doaj +1 more source
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania +4 more
core +2 more sources
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth +9 more
core +1 more source
Correlation analysis of the transcriptome of growing leaves with mature leaf parameters in a maize RIL population [PDF]
Background: To sustain the global requirements for food and renewable resources, unraveling the molecular networks underlying plant growth is becoming pivotal.
Baute, Joke +9 more
core +2 more sources
PhenPath: a tool for characterizing biological functions underlying different phenotypes
Background Many diseases are associated with complex patterns of symptoms and phenotypic manifestations. Parsimonious explanations aim at reconciling the multiplicity of phenotypic traits with the perturbation of one or few biological functions. For this,
Giulia Babbi +2 more
doaj +1 more source
MinePath: Mining for Phenotype Differential Sub-paths in Molecular Pathways.
Pathway analysis methodologies couple traditional gene expression analysis with knowledge encoded in established molecular pathway networks, offering a promising approach towards the biological interpretation of phenotype differentiating genes.
Lefteris Koumakis +10 more
doaj +1 more source
Identification of early molecular markers associated with the mantled phenotype in micropropagated oil palms by subtractive PCR and cDNA array analysis [PDF]
Tissue culture of oil palm induces somaclonal variation. The main one, known as the mantled abnormality, displays homeotic floral modifications and is associated with a lower oil yield. To detect abnormal cell lines as early as possible during the tissue
Beulé, Thierry +5 more
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