Results 11 to 20 of about 4,546,004 (334)
Phenotypic and genotypic correlation between myopia and intelligence [PDF]
Scientific Reports, 2017 Myopia, or near-sightedness, is our most common eye condition and the prevalence is increasing globally. Visual impairment will occur if uncorrected, whilst high myopia causes sight-threatening complications. Myopia is associated with higher intelligence.
K. Williams +5 more
semanticscholar +9 more sources
Genotype–phenotype correlations in recessive titinopathies [PDF]
Genetics in Medicine, 2020 High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy
Giorgio Tasca +42 more
openaire +10 more sources
Genotype–phenotype correlations within the Geodermatophilaceae [PDF]
Frontiers in Microbiology, 2022 The integration of genomic information into microbial systematics along with physiological and chemotaxonomic parameters provides for a reliable classification of prokaryotes. In silico analysis of chemotaxonomic traits is now being introduced to replace characteristics traditionally determined in the laboratory with the dual goal of both increasing ...
Maria del Carmen Montero-Calasanz +6 more
openaire +4 more sources
Genotype-phenotype correlations in FSHD [PDF]
BMC Medical Genomics, 2019 Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There are two types of the disease: FSHD1 (MIM:158900) and FSHD2 (MIM: 158901), which have different genetic causes but are phenotypically ...
Nikolay V. Zernov, Mikhail Skoblov
openaire +4 more sources
Correlations of genotype and phenotype in hypophosphatasia [PDF]
Human Molecular Genetics, 1999 Hypophosphatasia, a rare inherited disorder characterized by defective bone mineralization, is highly variable in its clinical expression. The disease is due to various mutations in the tissue-non-specific alkaline phosphatase ( TNSALP ) gene. We report here the use of clinical data, site-directed mutagenesis and computer-assisted modelling to propose ...
Zurutuza, L. +6 more
openaire +4 more sources
Genetic correlates of phenotypic heterogeneity in autism [PDF]
Nature Genetics, 2020 AbstractThe substantial phenotypic heterogeneity in autism limits our understanding of its genetic aetiology. To address this gap, we investigated genetic differences between autistic individuals (Nmax= 12,893) based on core (i.e., social communication difficulties, and restricted and repetitive behaviours) and associated features of autism, co ...
Varun Warrier +82 more
openaire +10 more sources
Genotype-phenotype correlation in pseudoxanthoma elasticum [PDF]
Atherosclerosis, 2021 Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability. We investigated the association between the ABCC6 genotype and calcification and clinical phenotypes in these different organs.ABCC6 sequencing was performed in ...
Jonas W. Bartstra +15 more
openaire +5 more sources
Genotype–Phenotype Correlations in Children with HHT [PDF]
Journal of Clinical Medicine, 2020 Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease mostly caused by mutations in three known genes (ENG, ACVRL1, and SMAD4), is characterized by the development of vascular malformations (VMs). Patients with HHT may present with mucocutaneous telangiectasia, as well as organ arteriovenous malformations (AVMs) of the central ...
James R. Gossage +18 more
openaire +4 more sources
Genotype-Phenotype Correlations in PMM2-CDG [PDF]
Genes, 2021 PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients.
Laurien Vaes +7 more
openaire +3 more sources
Genetic variation and correlation of agronomic traits in meadow bromegrass (Bromus riparius Rehm) clones [PDF]
Ciência Rural, 2004 Meadow bromegrass (Bromus riparius Rehm.) is a recently introduced pasture grass in western Canada. Its leafy production and rapid regrowth have made it a major grass species for pasturing beef animals in this region.
Marcelo Renato Alves de Araújo +1 more
doaj +1 more source