Phenotype, genotype, and mating type determination in oral Candida albicans isolates from pediatric patients with neutropenia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24664
Abstract: The most frequent species of Candida to infect and colonize patients with neutropenia is still Candida albicans. This study aimed to provide detailed information on the phenotype, genotype, and mating type of oral C. albicans… read more here.
Keywords: mating type; phenotype genotype; patients neutropenia; genotype mating ... See more keywords
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1894
Abstract: Guanine nucleotide exchange factors (GEFs) play pivotal roles in neuronal cell functions by exchanging GDP to GTP nucleotide and activation of GTPases. We aimed to determine the genotype and phenotype spectrum of GEF mutations by… read more here.
Keywords: phenotype genotype; nucleotide exchange; guanine nucleotide; spectrum ... See more keywords
Phenotype‐Genotype Correlation in Children with Neurofibromatosis Type 1
Sign Up to like & getrecommendations! Published in 2018 at "Neuropediatrics"
DOI: 10.1055/s-0037-1620239
Abstract: Abstract Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an incidence of ˜1 in 4,000 live births. Neurofibromin, the gene product, is ubiquitously expressed at high levels in the nervous system and… read more here.
Keywords: phenotype genotype; correlation children; genotype correlation; children neurofibromatosis ... See more keywords
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Medicine"
DOI: 10.1080/07853890.2019.1587498
Abstract: Abstract Background: Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and a myriad of often-serious clinical complications. Methods: We established the clinical and laboratory phenotype and genotype… read more here.
Keywords: phenotype genotype; hermansky pudlak; ten patients; hps ... See more keywords
Non-valvular atrial fibrillation recurrence after sinus rhythm restoring at different follow-up periods: phenotype-genotype high-risk groups, considering rs10465885 polymorphism in connexin-40 gene
Sign Up to like & getrecommendations! Published in 2021 at "Europace"
DOI: 10.1093/europace/euab116.119
Abstract: Type of funding sources: None. to provide risk stratification of non-valvular atrial fibrillation (AF) recurrence after sinus rhythm restoring (SRR) in patients (pts) with AF at different follow-up periods (3 months (AFr3m), 12 months (AFr12m)… read more here.
Keywords: high risk; risk groups; recurrence; risk ... See more keywords
Phenotype‐genotype correlation of p.R124S mutation in granular type 1 corneal dystrophy of Tunisian origin
Sign Up to like & getrecommendations! Published in 2018 at "Acta Ophthalmologica"
DOI: 10.1111/aos.13972_134
Abstract: Purpose: We report the clinical features and phenotype‐genotype correlation in a large Tunisian family with granular corneal dystrophy type I. Methods: Twenty‐seven members of the Tunisian family underwent a complete ophthalmologic examination. A histopathological examination… read more here.
Keywords: phenotype genotype; corneal; genotype correlation; corneal dystrophy ... See more keywords
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
Sign Up to like & getrecommendations! Published in 2023 at "Acta ophthalmologica"
DOI: 10.1111/aos.15654
Abstract: PURPOSE To characterise the phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy (KC + FECD). METHODS We recruited 20 patients with concurrent KC + FECD for a retrospective observational case series from the United Kingdom and… read more here.
Keywords: genotype concurrent; concurrent keratoconus; concurrent; phenotype genotype ... See more keywords
Linking phenotype with genotype
Sign Up to like & getrecommendations! Published in 2021 at "Science"
DOI: 10.1126/science.371.6532.902-b
Abstract: Population Genetics In humans, it is difficult to work out how natural selection affects phenotypic variation. With the accumulation of huge repositories of human genetic data and new computational methods, the impact of medical conditions… read more here.
Keywords: phenotype genotype; linking phenotype; deleterious load;
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families
Sign Up to like & getrecommendations! Published in 2019 at "Cytogenetic and Genome Research"
DOI: 10.1159/000499325
Abstract: Hypohidrotic or anhidrotic ectodermal dysplasia (HED/EDA) is characterized by impaired development of the hair, teeth, or sweat glands. HED/EDA is inherited in an X-linked, autosomal dominant, or autosomal recessive pattern and caused by the pathogenic… read more here.
Keywords: phenotype genotype; pathogenic variants; cohort; dysplasia ... See more keywords
Phenotype-Genotype Correlation in Colorectal Cancer: A Real-Life Study
Sign Up to like & getrecommendations! Published in 2021 at "GE Portuguese Journal of Gastroenterology"
DOI: 10.1159/000516009
Abstract: Background and Aims: Colorectal cancer (CRC) is a heterogeneous disease with distinctive genetic pathways, such as chromosomal instability, microsatellite instability and methylator pathway. Our aim was to correlate clinical and genetic characteristics of CRC patients… read more here.
Keywords: phenotype genotype; genotype correlation; colorectal cancer; mutated tumours ... See more keywords
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
Sign Up to like & getrecommendations! Published in 2017 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000208
Abstract: Objective: To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss genotype-phenotype relations. Methods: We describe 9… read more here.
Keywords: phenotype genotype; heterogeneity phenotype; muscle; genotype ... See more keywords