Genotype–phenotype correlation of hereditary erythrocytosis mutations, a single center experience
Sign Up to like & getrecommendations! Published in 2018 at "American Journal of Hematology"
DOI: 10.1002/ajh.25150
Abstract: Hereditary erythrocytosis is associated with high oxygen affinity hemoglobin variants (HOAs), 2,3‐bisphosphoglycerate deficiency and abnormalities in EPOR and the oxygen‐sensing pathway proteins PHD, HIF2α, and VHL. Our laboratory has 40 years of experience with hemoglobin… read more here.
Keywords: genotype phenotype; phenotype correlation; hereditary erythrocytosis; erythrocytosis ... See more keywords
Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.741
Abstract: Alport Syndrome (AS) is a progressive hereditary glomerular disease. It is often accompanied by sensorineural hearing loss and ocular abnormalities and can sometimes develop into end stage renal disease (ESRD), which is caused by mutations… read more here.
Keywords: correlation prognostic; genotype phenotype; phenotype correlation; alport syndrome ... See more keywords
Genotype phenotype correlation in a pediatric population with antithrombin deficiency
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-019-03433-5
Abstract: Inherited antithrombin (AT) deficiency is a rare autosomal dominant disorder, caused by mutations in the AT gene (SERPINC1). Considering that the genotype phenotype relationship in AT deficiency patients remains unclear, especially in pediatric patients, the… read more here.
Keywords: deficiency; thrombosis; genotype phenotype; phenotype correlation ... See more keywords
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
Sign Up to like & getrecommendations! Published in 2018 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2017.12.001
Abstract: Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for… read more here.
Keywords: phenotype; genotype phenotype; phenotype correlation; mutations affecting ... See more keywords
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103735
Abstract: Pathogenic variants in the IQSEC2 gene including nonsense, frameshift, splice-alterations, deletions, and missense changes have been identified in individuals with X-linked mental retardation. Although highly variable, clinical features may include hypotonia, moderate to severe delayed… read more here.
Keywords: genotype phenotype; phenotype correlation; variant type; iqsec2 gene ... See more keywords
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100495
Abstract: Gangliosidoses, including GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease), are lysosomal disorders resulting from enzyme deficiencies and accumulation of gangliosides. Phenotypes of gangliosidoses range from infantile, late-infantile, juvenile, and to the adult form. The… read more here.
Keywords: phenotype; genotype phenotype; phenotype correlation; disease ... See more keywords
Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients
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DOI: 10.1038/s41431-019-0373-x
Abstract: Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes. To increase OI disease knowledge and contribute to patient… read more here.
Keywords: genotype phenotype; phenotype correlation; imperfecta; osteogenesis imperfecta ... See more keywords
Genotype–phenotype correlation in patients with deletional and nondeletional mutations of Hb H disease in Southwest of Iran
Sign Up to like & getrecommendations! Published in 2022 at "Scientific Reports"
DOI: 10.1038/s41598-022-08986-4
Abstract: We studied the alpha-globin gene genotypes, hematologic values, and transfusion-dependence of patients with Hb H disease. Molecular characterization of alpha-thalassemia was performed. We identified 120 patients with Hb H disease. Of these patients, 35 (29.16%)… read more here.
Keywords: form; phenotype correlation; alpha globin; patients deletional ... See more keywords
Genotype/Phenotype correlation and prognosis for undescribed ACTC1 missense variants
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DOI: 10.1093/ehjci/ehaa946.2075
Abstract: Establish the genotype/phenotype correlation for missense undescribed variants in ACTC1, and evaluate their prognostic implications. A systematic screening for the ACTC1 gene was performed using NGS in 17,683 individuals with inherited cardiovascular disease, 6,984 of… read more here.
Keywords: death; missense variants; genotype phenotype; phenotype correlation ... See more keywords
Genotype-phenotype correlation of rare variants in the SCN5A gene in children population
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DOI: 10.1093/europace/euad122.601
Abstract: Abstract Funding Acknowledgements Type of funding sources: None. Background Rare variants in the SCN5A gene have been associated with Brugada syndrome (BS), long QT syndrome type 3 (LQTS3), and other conduction disorders that can lead… read more here.
Keywords: rare variants; scn5a gene; variants scn5a; phenotype correlation ... See more keywords
Genotype–phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants
Sign Up to like & getrecommendations! Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddx195
Abstract: Isovaleric acidaemia (IVA) is an autosomal recessive inborn error of leucine metabolism. It is caused by a deficiency in the mitochondrial isovaleryl-CoA dehydrogenase (IVD) enzyme. In this study, we investigated eight patients with IVA. The… read more here.
Keywords: genotype phenotype; phenotype correlation; analysis; computational analysis ... See more keywords