Associated Papers
Familial mast cell-mediated angioedema: Description of 4 families.
Sabaté-Brescó M et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
Endplate Lesions of the Lumbar Spine: Biochemistry and Genetics.
Colombini A et al.
Genes, 2025
Genomic alterations in normal breast tissues preceding breast cancer diagnosis.
Dai J et al.
Breast Cancer Research : Bcr, 2025
Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.
Jarrar Y et al.
Journal of Personalized Medicine, 2025
A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing.
Perez-Dionisio E et al.
Archives of Endocrinology and Metabolism, 2025
Genetic Testing as a Source of Information Driving Diagnosis and Therapeutic Plan in a Multidisciplinary Case.
Grippaudo C et al.
Bioengineering (basel, Switzerland), 2024
Association between Vitamin D Receptor Polymorphisms, Tight Junction Proteins and Clinical Features of Adult Patients with Atopic Dermatitis.
Grieco T et al.
Dermatology Practical & Conceptual, 2024
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
Vitamin D-associated genetic variants in the Brazilian population: Investigating potential instruments for Mendelian randomization.
De Souza Silverio C et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2024
Vitamin D receptor genetic variant associated with asthma in Swedish school-children.
Filiou A et al.
Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2023
Genetic susceptibility of vitamin D receptor gene polymorphisms on autosomal recessive primary microcephaly patients in Pakistani population: a case-control and in-silico study.
Aslam K et al.
Molecular Biology Reports, 2023
A Comprehensive Look at the -13910 C>T LCT Gene Polymorphism as a Molecular Marker for Vitamin D and Calcium Levels in Young Adults in Central and Eastern Europe: A Preliminary Study.
Kowalówka M et al.
International Journal of Molecular Sciences, 2023
Associations of vitamin D-related single nucleotide polymorphisms with post-stroke depression among ischemic stroke population.
Sun D et al.
Frontiers in Psychiatry, 2023
Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.
Liu X et al.
Frontiers in Genetics, 2022
Vitamin D-related polymorphisms and vitamin D levels as risk biomarkers of COVID-19 disease severity.
Freitas AT et al.
Scientific Reports, 2021
Association of Vitamin D Receptor Gene Polymorphisms With the Evolution of MODY Diabetes: Study in Tunisian Patients.
Guesmi A et al.
Biological Research for Nursing, 2021
Synergistic effect of genetic polymorphisms in TLR6 and TLR10 genes on the risk of pulmonary tuberculosis in a Moldavian population.
Varzari A et al.
Innate Immunity, 2021
TaaI/Cdx-2 AA Variant of VDR Defines the Response to Phototherapy amongst Patients with Psoriasis.
Lesiak A et al.
Life (basel, Switzerland), 2021
Vitamin D receptor gene polymorphism in patients with osteomalacic myopathy in Egypt.
Shokri HM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Genetic risk factors for lumbar disc disease.
Doraisamy R et al.
Clinical Anatomy (new York, N.y.), 2021
Polymorphisms and haplotypes in VDR gene are associated with female idiopathic infertility.
Djurovic J et al.
Human Fertility (cambridge, England), 2020
Association of polymorphisms in the vitamin D receptor gene with susceptibility to and severity of hand, foot, and mouth disease caused by coxsackievirus A16.
Li YP et al.
Journal of Medical Virology, 2020
Vitamin D receptor rs2228570 polymorphism and Parkinson's disease risk in a Chinese population.
Hu W et al.
Neuroscience Letters, 2020
Association between vitamin D receptor (FokI) genetic variant rs2228570 and iron profile in hemodialysis patients.
Al-Shaer OS et al.
Molecular Biology Reports, 2020
Vitamin D Status in Russian Children and Adolescents: Contribution of Genetic and Exogenous Factors.
Kondratyeva EI et al.
Frontiers in Pediatrics, 2020
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.
Zhang C et al.
Molecular Genetics & Genomic Medicine, 2019
Association of polymorphisms in the vitamin D receptor gene with severity of hand, foot, and mouth disease caused by enterovirus 71.
Li YP et al.
Journal of Medical Virology, 2019
Host genetic variants in sepsis risk: a field synopsis and meta-analysis.
Lu H et al.
Critical Care (london, England), 2019
Vitamin D receptor polymorphism rs2228570 is significantly associated with risk of dyslipidemia and serum LDL levels in Chinese Han population.
Jia J et al.
Lipids in Health and Disease, 2018
Evaluation of 1,25-dihydroxyvitamin D3 pathway in patients with chronic urticaria.
Nasiri-Kalmarzi R et al.
Qjm : Monthly Journal of the Association of Physicians, 2018
Non-Synonymous Single-Nucleotide Polymorphisms and Physical Activity Interactions on Adiposity Parameters in Malaysian Adolescents.
Zaharan NL et al.
Frontiers in Endocrinology, 2018
Genetic polymorphisms may influence the vertical growth rate of melanoma.
Sikora M et al.
Journal of Cancer, 2018
Nutritional rickets: vitamin D, calcium, and the genetic make-up.
El Kholy M et al.
Pediatric Research, 2017
Lack of association between genotype score and sprint/power performance in the Japanese population.
Miyamoto-Mikami E et al.
Journal of Science and Medicine in Sport, 2017
Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.
Brar PC et al.
Case Reports in Endocrinology, 2017
Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1.
Al-Barry MA et al.
Bmc Ophthalmology, 2016
Role of vitamin D receptor gene polymorphisms in aplastic anemia: a case-control study from China.
Yu W et al.
International Journal of Laboratory Hematology, 2016
The rs1803274 polymorphism of the BCHE gene is associated with an increased risk of coronary in-stent restenosis.
Pleva L et al.
Bmc Cardiovascular Disorders, 2015
Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population.
Cheon CK et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India.
Guha M et al.
Plos One, 2015
Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese.
Lim LM et al.
Plos One, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Analysis of FokI polymorphism of vitamin D receptor gene in intervertebral disc degeneration.
Vieira LA et al.
Genetic Testing and Molecular Biomarkers, 2014
Dupuytren's disease and the risk of malignant neoplasms.
Zyluk A et al.
Hereditary Cancer in Clinical Practice, 2014