Clinical phenotypes and the biological parameters of Congolese patients suffering from sickle cell anemia: A first report from Central Africa
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.22140
Abstract: The influence of phenotype on the clinical course and laboratory features of sickle cell anemia (SCA) is rarely described in sub‐Saharan Africa. read more here.
Keywords: phenotypes biological; biological parameters; clinical phenotypes; cell anemia ... See more keywords
Hydroxychloroquine is safe and efficacious in oral lichen planus: data from a large outpatient cohort
Sign Up to like & getrecommendations! Published in 2025 at "Archives of Dermatological Research"
DOI: 10.1007/s00403-025-04226-7
Abstract: Lichen planus (LP) is a chronic inflammatory T-cell mediated disease affecting the skin, mucous membranes and skin appendages. Data on clinical phenotypes and systemic treatment of LP are limited. We analyzed a cohort of LP… read more here.
Keywords: lichen planus; cohort; treatment; clinical phenotypes ... See more keywords
Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients
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DOI: 10.1007/s10875-020-00799-2
Abstract: LPS-responsive beige-like anchor (LRBA) deficiency is an autosomal recessive primary immunodeficiency disorder, OMIM (#614700). LRBA deficiency patients suffer from variable manifestations including recurrent infections, immune dysregulation, autoimmunity, cytopenias, and enteropathy. This study describes different clinical… read more here.
Keywords: deficiency patients; phenotypes immunological; immunological characteristics; clinical phenotypes ... See more keywords
Sex Differences in Diagnosis and Clinical Phenotypes of Chinese Children with Autism Spectrum Disorder
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DOI: 10.1007/s12264-017-0102-9
Abstract: The aim of this study was to explore the differences between boys and girls in the diagnosis and clinical phenotypes of autism spectrum disorder (ASD) in China's mainland. Children diagnosed with ASD (n = 1064, 228 females)… read more here.
Keywords: autism; clinical phenotypes; spectrum disorder; diagnosis clinical ... See more keywords
Past, Present, and Future Research on the Lung Microbiome in Inflammatory Airway Disease.
Sign Up to like & getrecommendations! Published in 2019 at "Chest"
DOI: 10.1016/j.chest.2019.05.011
Abstract: COPD, asthma, and cystic fibrosis (CF) are obstructive lung diseases with distinct pathophysiologies and clinical phenotypes. In this paper, we highlight recent advances in our understanding of relationships between clinical phenotypes, host inflammatory response, and… read more here.
Keywords: host inflammatory; clinical phenotypes; lung microbiota; inflammatory response ... See more keywords
Clinical and molecular correlates in fragile X premutation females
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DOI: 10.1016/j.ensci.2017.04.003
Abstract: The prevalence of the fragile X premutation (55–200 CGG repeats) among the general population is relatively high, but there remains a lack of clear understanding of the links between molecular biomarkers and clinical outcomes. In… read more here.
Keywords: clinical molecular; premutation; molecular correlates; clinical phenotypes ... See more keywords
Serum immunoglobulin free light chains and their association with clinical phenotypes, serology and activity in patients with IgG4-related disease
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DOI: 10.1038/s41598-021-81321-5
Abstract: The clinical utility of serum immunoglobulin free light chains (sFLC) in IgG4-related disease (IgG4-RD) is unknown. Herein we evaluated their association with clinical phenotypes, serology and activity in patients with IgG4-RD. Cross-sectional study that included… read more here.
Keywords: igg4; clinical phenotypes; sflc; serology ... See more keywords
Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.
Sign Up to like & getrecommendations! Published in 2017 at "Klinische Padiatrie"
DOI: 10.1055/s-0043-104218
Abstract: Background Heterozygous point mutations in the GT splice donor consensus sequence of exon 11 of the PIK3R1 gene (coding for p85α, p55α, and p50α regulatory subunits of PI3K) lead to exon skipping and thereby to… read more here.
Keywords: pik3r1 hypermorphic; clinical phenotypes; variant pik3r1; family ... See more keywords
External validation of unsupervised COVID-19 clinical phenotypes and their prognostic impact
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DOI: 10.1080/07853890.2023.2195204
Abstract: Abstract Background Hospitalized patients with coronavirus disease 2019 (COVID-19) can be classified into different clinical phenotypes based on their demographic, clinical, radiology, and laboratory features. We aimed to validate in an external cohort of hospitalized… read more here.
Keywords: prognostic impact; external validation; fen covid; clinical phenotypes ... See more keywords
Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions
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DOI: 10.1080/13816810.2017.1393825
Abstract: ABSTRACT Purpose: To expand the genotype/phenotype correlations in patients with autosomal dominant retinitis pigmentosa (adRP) harboring PRPF8 variants. Materials and Methods: Two patients, a father and his daughter, harboring a novel p.PRPF8-Glu2331* variant, underwent ophthalmic… read more here.
Keywords: prpf8; clinical phenotypes; autosomal dominant; dominant retinitis ... See more keywords
OP30 Dissecting the genetic basis of clinical phenotype heterogeneity within IBD in more than 63,000 IBD patients
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Crohn's and Colitis"
DOI: 10.1093/ecco-jcc/jjae190.0030
Abstract: More than 200 genetic variants associated with Inflammatory Bowel Disease (IBD) susceptibility are known but few large-scale studies have been performed to examine the genetics basis of the heterogeneity of clinical phenotypes in IBD, including… read more here.
Keywords: disease; clinical phenotypes; genetics; disease location ... See more keywords