CGH array for the identification of a compound heterozygous mutation in the CYP1B1 gene in a patient with bilateral anterior segment dysgenesis

Artikel in diesem Heft

1. Frontmatter
2. Editorial
3. Can Grail find the trail to early cancer detection?
4. Reviews
5. Aberrant glycosylation and cancer biomarker discovery: a promising and thorny journey
6. Application of NMR metabolomics to search for human disease biomarkers in blood
7. Mini Review
8. Host-response biomarkers for the diagnosis of bacterial respiratory tract infections
9. Opinion Paper
10. Diabetes alert dogs: a narrative critical overview
11. EFLM Paper
12. Documenting metrological traceability as intended by ISO 15189:2012: A consensus statement about the practice of the implementation and auditing of this norm element
13. General Clinical Chemistry and Laboratory Medicine
14. Commutability of external quality assessment materials for serum sodium and potassium measurements
15. Standardization of measurement procedures for serum uric acid: 8-year experience from Category 1 EQA program results in China
16. Next-generation rapid serum tube technology using prothrombin activator coagulant: fast, high-quality serum from normal samples
17. Cannabinoids determination in bronchoalveolar lavages of cannabis smokers with lung disease
18. A new method for the determination of ammonium in the vitreous humour based on capillary electrophoresis and its preliminary application in thanatochemistry
19. Reference Values and Biological Variations
20. Defining reference intervals for a serum growth differentiation factor-15 (GDF-15) assay in a Caucasian population and its potential utility in diabetic kidney disease (DKD)
21. Cancer Diagnostics
22. Preanalytical stability of [-2]proPSA in whole blood stored at room temperature before separation of serum and plasma: implications to Phi determination
23. Cardiovascular Diseases
24. A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient
25. Infectious Diseases
26. Analyzing the capability of PSP, PCT and sCD25 to support the diagnosis of infection in cancer patients with febrile neutropenia
27. Mid-regional pro-adrenomedullin predicts poor outcome in non-selected patients admitted to an intensive care unit
28. Validation of Mycobacterium tuberculosis real-time polymerase chain reaction for diagnosis of tuberculous meningitis using cerebrospinal fluid samples: a pilot study
29. Letters to the Editor
30. Methodological issues are important in cannabinoids determination in bronchoalveolar lavage
31. Clarifying methodological issues in cannabinoids determination in bronchoalveolar lavages
32. Letter to the Editor relating to Clin Chem Lab Med 2018;56(7):1090–1099
33. Authors’ reply to the Letter by Infantino et al. commenting on Bonroy et al.: Anti-DFS70 in different settings, CCLM 2018;56:1090–9
34. High-sensitivity cardiac troponin-I analytical imprecisions evaluated by internal quality control or imprecision profile
35. Procalcitonin as guide to therapy in endovascular infections: caveat emptor!
36. A new suggested approach in screening for Bence Jones protein and potential kidney damage
37. Establishing assay-specific 97.5th percentile upper reference limit for serum D-2-hydroxyglutarate for the management of patients with acute myeloid leukemia
38. Parallel algorithm for myeloproliferative neoplasms testing: the frequency of double mutations is found in the JAK2/MPL genes more often than the JAK2/CALR genes, but is there a clinical benefit?
39. CGH array for the identification of a compound heterozygous mutation in the CYP1B1 gene in a patient with bilateral anterior segment dysgenesis
40. A very rare interference with the valproate method on the Beckman DxC 800 general chemistry analyser
41. Congress Abstracts
42. 5th EFLM Conference on Preanalytical Phase Zagreb (HR), 22-23 March 2019