217 results on '"Vanakker, Olivier M."'
Search Results
2. Minocycline Attenuates Excessive DNA Damage Response and Reduces Ectopic Calcification in Pseudoxanthoma Elasticum
3. Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model
4. Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
5. Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review.
6. Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation
7. Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases
8. The Activation of JAK/STAT3 Signaling and the Complement System Modulate Inflammation in the Primary Human Dermal Fibroblasts of PXE Patients
9. 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly
10. Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype
11. Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum
12. Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases
13. The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals
14. Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
15. Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum–Like Skin Manifestations Associated with GGCX Mutations
16. Methylation signatures in clinically variable syndromic disorders: a familial DNMT3Avariant in two adults with Tatton-Brown–Rahman syndrome
17. Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum
18. Functional Polymorphism in Gamma-Glutamylcarboxylase is a Risk Factor for Severe Neonatal Hemorrhage
19. Minocycline Counteracts Ectopic Calcification in a Murine Model of Pseudoxanthoma Elasticum: A Proof-of-Concept Study
20. Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome
21. Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum
22. Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability
23. Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis
24. Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model
25. Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity
26. Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines
27. Second family with the boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum
28. Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.
29. Phenotypic spectrum of the RBM10 ‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
30. Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?
31. The pathogenic p.R391G ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum
32. From membrane to mineralization: the curious case of the ABCC6 transporter
33. VEGFAvariants as prognostic markers for the retinopathy in pseudoxanthoma elasticum
34. Chikungunya outbreak in Bangladesh (2017): Clinical and hematological findings
35. Referee report. For: Case Report: Pseudoxanthoma elasticum [version 1; peer review: 1 approved with reservations]
36. Novel Clinico-molecular Insights in Pseudoxanthoma Elasticum Provide an Efficient Molecular Screening Method and a Comprehensive Diagnostic Flowchart
37. Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
38. Cellular and Molecular Biomarkers Indicate Premature Aging in Pseudoxanthoma Elasticum Patients
39. Morpholino-Mediated Gene Knockdown in Zebrafish: It Is All About Dosage and Validation
40. Chikungunya Outbreak in Bangladesh (2017): Clinical and hematological findings
41. A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus
42. Clinical and subclinical findings in heterozygous ABCC6carriers: results from a Belgian cohort and clinical practice guidelines
43. Internal Carotid Artery Hypoplasia: A New Clinical Feature in Pseudoxanthoma Elasticum
44. VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.
45. Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
46. Reassessment of causality of ABCC6missense variants associated with pseudoxanthoma elasticum based on Sherloc
47. The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders
48. Phenotype of a Belgian Family With 6p25 Deletion Syndrome
49. Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues
50. Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis
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