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Genetic profile of syndromic retinitis pigmentosa in Portugal
PurposeRetinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20–30% of...
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Cohort profile update: Tehran cardiometabolic genetic study
The Tehran cardiometabolic genetic study (TCGS) is a large population-based cohort study that conducts periodic follow-ups. TCGS has created a...
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Identification of genetic profile and biomarkers involved in acute respiratory distress syndrome
PurposeThe purpose of this study was to profile genetic causal factors of acute respiratory distress syndrome (ARDS) and early predict patients at...
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Similar genetic profile in early and late stage urothelial tract cancer
IntroductionUrothelial tract cancer (UTC) ranks as the tenth most prevalent cancer and holds the seventh position in terms of mortality worldwide....
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The clinical profile, genetic basis and survival of childhood cardiomyopathy: a single-center retrospective study
Cardiomyopathy (CM) is a heterogeneous group of myocardial diseases in children. This study aimed to identify demographic features, clinical...
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Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience
BackgroundThree types of primary hyperoxaluria (PH) are recognized. However, data on PH type 2 (PH2), caused by defects in the GRHPR gene, are...
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Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India
ObjectiveTo define the spectrum of genetic disorders in patients with short stature visiting the genetic out-patient department in a tertiary care...
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Genetic profile for dopamine signaling predicts brain functional reactivity to repetitive transcranial magnetic stimulation
Research integrating molecular and imaging data provides important insights into how the genetic profile associated with dopamine signaling...
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Characterization of early psychosis patients carrying a genetic vulnerability to redox dysregulation: a computational analysis of mechanism-based gene expression profile in fibroblasts
In view of its heterogeneity, schizophrenia needs new diagnostic tools based on mechanistic biomarkers that would allow early detection. Complex...
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Analysis of antibiotic resistance and genetic profile of conjunctival bacteria flora before and after cataract surgery
PurposeTo analyze antibiotic resistance and genetic profile of conjunctival bacteria flora before and after cataract surgery with the focus on...
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Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome
BackgroundFanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as...
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Is genetic risk of ADHD mediated via dopaminergic mechanism? A study of functional connectivity in ADHD and pharmacologically challenged healthy volunteers with a genetic risk profile
Recent GWAS allow us to calculate polygenic risk scores for ADHD. At the imaging level, resting-state fMRI analyses have given us valuable insights...
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Erratum to: Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India
Appropriate corrections have been done in the web version at https://www.indianpediatrics.net/june2022/463.pdf
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Clinical Metabolomics Applications in Genetic Diseases
This book helps readers discover the forefront of personalized medicine on clinical metabolomics and its applications in genetic diseases. This...
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Clinical profile of epilepsy in western Algeria
BackgroundEpilepsy is one of the most common neurological diseases that affects people of different ages, ethnicities, and geographical locations....
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Differential Profile of Primary and Recurrent Ameloblastomas Among Afro-descendants and Non-Afro-descendants—a Systematic Review
Ameloblastoma is an aggressively growing jaw tumor with high recurrent properties. Reports on global and racial distribution of ameloblastoma are...
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Genetic determinants of renal scarring in children with febrile UTI
BackgroundFebrile urinary tract infections (UTIs) are among the most severe bacterial infections in infants, in which a subset of patients develops...
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The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome
BackgroundPrader-Willi syndrome (PWS) is a rare, neurodevelopmental disorder caused by the lack of expression of paternally imprinted genes on...
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The HLA profile and genetic affinities of three primitive Tamil-speaking endogamous groups: Kallars of Thanjavur, Piramalai Kallar and Vanniyar
BackgroundThe present study was aimed to study the frequencies of HLA-DRB1/-DQB1 alleles and haplotypes of three endogamous groups of Tamil Nadu...
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Relationship between the nasal profile and craniofacial structures: does part of the nasal profile reflect some craniofacial structures?
This study aims to evaluate the relationship between the nasal profile and other craniofacial structures. Lateral cephalometric images of 124 adults...
