Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes
Sign Up to like & getrecommendations! Published in 2020 at "International Ophthalmology"
DOI: 10.1007/s10792-020-01559-2
Abstract: Purpose Achromatopsia (ACHM) is an autosomal recessive cone disorder characterized by pendular nystagmus, photophobia, reduced visual acuity, and partial or total absence of color vision. Mutations in six genes ( CNGA3 , CNGB3 , GNAT2… read more here.
Keywords: molecular clinical; cnga3 cngb3; disease; thai patients ... See more keywords
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-01012-7
Abstract: Exome sequencing has been increasingly implemented in prenatal genetic testing for fetuses with morphological abnormalities but normal rapid aneuploidy detection and microarray analysis. We present a retrospective study of 90 fetuses with different abnormal ultrasound… read more here.
Keywords: causing variants; novel disease; singleton exome; disease ... See more keywords
Identification of a Novel Hb H Disease with Glucose-6-Phosphate Dehydrogenase Deficiency Using Whole Genome Sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Hemoglobin"
DOI: 10.1080/03630269.2022.2070072
Abstract: Abstract With the development of sequencing technology, more and more rare thalassemia types have been found. In this article, we found a novel Hb H disease combined with glucose-6-phosphate dehydrogenase (G6PD) deficiency through whole genome… read more here.
Keywords: genome sequencing; glucose phosphate; phosphate dehydrogenase; novel disease ... See more keywords
Deep-Precognitive Diagnosis: Preventing Future Pandemics by Novel Disease Detection With Biologically-Inspired Conv-Fuzzy Network
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DOI: 10.1109/access.2022.3153059
Abstract: Deep learning-based Computer-Aided Diagnosis has gained immense attention in recent years due to its capability to enhance diagnostic performance and elucidate complex clinical tasks. However, conventional supervised deep learning models are incapable of recognizing novel… read more here.
Keywords: precognitive diagnosis; disease; deep precognitive; novel disease ... See more keywords
Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia
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DOI: 10.1159/000512284
Abstract: We report the clinical phenotype and genetic findings of two variants in PDE6C underlying achromatopsia (ACHM). Four patients with the variant c.1670G>A in exon 13 of the PDE6C gene were identified. Additionally, one had compound… read more here.
Keywords: pde6c gene; variants pde6c; underlying achromatopsia; novel disease ... See more keywords
Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232113560
Abstract: GLUT1 deficiency syndrome (GLUT1DS1; OMIM #606777) is a rare genetic metabolic disease, characterized by infantile-onset epileptic encephalopathy, global developmental delay, progressive microcephaly, and movement disorders (e.g., spasticity and dystonia). It is caused by heterozygous mutations… read more here.
Keywords: variants structural; disease related; disease; novel disease ... See more keywords