SCI Abstract

search
+
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum
Abstract Progressive familial intrahepatic cholestasis (PFIC) is a rare genetically heterogeneous group of autosomal reces...
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene
Abstract Pathogenic variants in the AP4B1 gene lead to a rare form of hereditary spastic paraplegia (HSP) known as SPG47. ...
Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population
Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population
Abstract Fluoropyrimidines are chemotherapy drugs that may cause severe adverse events, and their metabolism occurs by dih...
CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population
CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population
Abstract Cystic fibrosis is the most common life-limiting autosomal recessive disease in western countries with an inciden...
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants
Abstract Alport syndrome is a genetic disorder affecting the basement membranes of the kidney, ear and eye, and represents...
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
Abstract TRAPPC4-related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (MIM# 618741) is a recen...
Inhibition of miR‐499‐5p expression improves nonalcoholic fatty liver disease
Inhibition of miR‐499‐5p expression improves nonalcoholic fatty liver disease
Abstract Objective Nonalcoholic fatty liver disease (NAFLD) is one of the leading causes of chronic liver diseases. Howeve...
Population structure and relatedness estimates in a Mexican sample
Population structure and relatedness estimates in a Mexican sample
Abstract Population stratification (PS) is a confounding factor in genome-wide association studies (GWASs) and also an int...
Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia
Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia
Abstract Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency, hereditary spherocytosis (HS), and alpha thalasse...
Expanding the clinico‐molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies
Expanding the clinico‐molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies
Abstract Angelman syndrome (AS) (OMIM#105830) is an imprinting disorder caused due to alterations in the maternal chr 15q1...
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature
Abstract Background: Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic ...
Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit
Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit
Abstract The PhenX Toolkit (https://www.phenxtoolkit.org/) is an online catalog of recommended measurement protocols to fa...
Genetics of ataxia telangiectasia in a highly consanguineous population
Genetics of ataxia telangiectasia in a highly consanguineous population
Abstract Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler y...
Identification of the β thalassemia allele β–50 and analysis of the hematology data of carriers in a southern Chinese population
Identification of the β thalassemia allele β–50 and analysis of the hematology data of carriers in a southern Chinese population
Abstract During a routine test, we identified a 38-year-old man who had a positive hematology screening result but was neg...
The hazards of genotype imputation in chromosomal regions under selection: A case study using the Lactase gene region
The hazards of genotype imputation in chromosomal regions under selection: A case study using the Lactase gene region
Abstract Although imputation of missing SNP results has been widely used in genetic studies, claims about the quality...
Interaction between the genetic variant of rs696217‐ghrelin and food intake and obesity and dyslipidemia
Interaction between the genetic variant of rs696217‐ghrelin and food intake and obesity and dyslipidemia
Abstract In this study, we aimed to investigate the relationship between the genetic variant of rs696217-ghrelin and faste...
PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India
PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India
Abstract The study was conducted between 2018 and 2020. From a cohort of 113 hearing impaired (HI), five non-DFNB12 proban...
format_indent_increase