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
Beyond genotype‐phenotype maps: Toward a phenotype‐centered perspective on evolution
Sign Up to like & getrecommendations! Published in 2022 at "BioEssays"
DOI: 10.1002/bies.202100225
Abstract: Evolutionary biology is paying increasing attention to the mechanisms that enable phenotypic plasticity, evolvability, and extra‐genetic inheritance. Yet, there is a concern that these phenomena remain insufficiently integrated within evolutionary theory. Understanding their evolutionary implications… read more here.
Keywords: maps toward; phenotype; phenotype maps; beyond genotype ... See more keywords
Clinical variability at the mild end of BRAT1-related spectrum: evidence from two families with genotype-phenotype discordance.
Sign Up to like & getrecommendations! Published in 2021 at "Human mutation"
DOI: 10.1002/humu.24293
Abstract: Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) to neurodevelopmental disorder and cerebellar atrophy with or without seizures (NEDCAS),… read more here.
Keywords: clinical variability; brat1 related; genotype phenotype; two families ... See more keywords
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24365
Abstract: We assessed genotype–phenotype correlations among the visual, auditory, and olfactory phenotypes of 127 participants with Usher syndrome (USH2) (n =80) or nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) (n = 47) due to USH2A variants, using clinical data and… read more here.
Keywords: ush2a related; phenotype correlations; genotype; genotype phenotype ... See more keywords
Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24392
Abstract: Von Hippel‐Lindau (VHL) disease is a hereditary cancer syndrome where individuals are predisposed to tumor development in the brain, adrenal gland, kidney, and other organs. It is caused by pathogenic variants in the VHL tumor… read more here.
Keywords: von hippel; phenotype; hippel lindau; genotype phenotype ... See more keywords
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype–phenotype relationships
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24483
Abstract: ADAMTSL4 variants are one of the common causes of congenital ectopia lentis (EL), reported ocular comorbidities of which include iris anomalies, cataract, and glaucoma. However, a genotype–phenotype correlation has not been established. Potentially pathogenic ADAMTSL4… read more here.
Keywords: adamtsl4 variants; congenital ectopia; ectopia lentis; genotype phenotype ... See more keywords
Exploring genotype–phenotype correlations in glutaric aciduria type 1
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12608
Abstract: Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by pathogenic variants in the gene encoding the enzyme glutaryl‐CoA dehydrogenase (GCDH). We performed an extensive literature search to collect data on GA1 patients,… read more here.
Keywords: pathogenic variants; phenotype; aciduria type; glutaric aciduria ... See more keywords
Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14
Sign Up to like & getrecommendations! Published in 2018 at "Movement Disorders"
DOI: 10.1002/mds.27334
Abstract: Background: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia. read more here.
Keywords: ataxia type; spinocerebellar ataxia; genotype phenotype; phenotype correlations ... See more keywords
Genotype–Phenotype Correlations for ATX‐TBP (SCA17): MDSGene Systematic Review
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
DOI: 10.1002/mds.29278
Abstract: Spinocerebellar ataxia type 17 or ATX‐TBP is a CAG/CAA repeat expansion disorder characterized by marked clinical heterogeneity. Reports of affected carriers with subthreshold repeat expansions and of patients with Parkinson's disease (PD) with expanded repeats… read more here.
Keywords: movement; repeat; tbp; atx tbp ... See more keywords
Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2009
Abstract: As a clinical subtype of SWI/SNF‐related intellectual disability syndromes, Nicolaides–Baraitser syndrome (NCBRS, OMIM601358) has a unique genotype–phenotype. Due to the scarcity of the number of cases reported and the limitations of diagnosis methods, so far… read more here.
Keywords: baraitser syndrome; genotype phenotype; gene; nicolaides baraitser ... 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