Detalhe da pesquisa
1.
APS calculator: a data-driven tool for setting outcome-based analytical performance specifications for measurement uncertainty using specific clinical requirements and population data.
Clin Chem Lab Med
; 62(4): 597-607, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37978287
2.
Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype.
J Allergy Clin Immunol
; 152(5): 1303-1311.e1, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37506976
3.
Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults.
Rheumatology (Oxford)
; 62(8): 2665-2672, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36575989
4.
ISO 15189 is a sufficient instrument to guarantee high-quality manufacture of laboratory developed tests for in-house-use conform requirements of the European In-Vitro-Diagnostics Regulation.
Clin Chem Lab Med
; 61(4): 608-626, 2023 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36716120
5.
AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.
Rheumatology (Oxford)
; 61(12): 4827-4834, 2022 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35262642
6.
An approach for determining allowable between reagent lot variation.
Clin Chem Lab Med
; 60(5): 681-688, 2022 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35172415
7.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Genet Med
; 22(1): 181-188, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363182
8.
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Clin Chem
; 66(4): 525-536, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32176780
9.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876365
10.
Validation and verification of examination procedures in medical laboratories: opinion of the EFLM Working Group Accreditation and ISO/CEN standards (WG-A/ISO) on dealing with ISO 15189:2012 demands for method verification and validation.
Clin Chem Lab Med
; 58(3): 361-367, 2020 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31714885
11.
Documenting metrological traceability as intended by ISO 15189:2012: A consensus statement about the practice of the implementation and auditing of this norm element.
Clin Chem Lab Med
; 57(4): 459-464, 2019 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30511927
12.
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review.
Crit Rev Clin Lab Sci
; 55(6): 432-442, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30035647
13.
Correspondence on 'Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases'.
Ann Rheum Dis
; 82(10): e218, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33298408
14.
H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives.
Haematologica
; 108(8): 2255-2260, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36727401
15.
In reply to: Limitations in using the EFLM WG-A/ISO approach for assessment of reagent lot variability.
Clin Chem Lab Med
; 61(11): e218-e220, 2023 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37261942
16.
Systemic inflammatory trunk recurrent acute macular eruption (SITRAME): A new auto-inflammatory syndrome in adult?
J Eur Acad Dermatol Venereol
; 37(4): e538-e542, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36426626
17.
When extended genetics rescues diagnosis: a patient with CANDLE-like phenotype and de novo mutation in the SAMD9L gene.
Ann Rheum Dis
; 81(3): 447-448, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34848396
18.
Accreditation process in European countries - an EFLM survey.
Clin Chem Lab Med
; 54(4): 545-51, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26744251
19.
Recommendation for the review of biological reference intervals in medical laboratories.
Clin Chem Lab Med
; 54(12): 1893-1900, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27748267
20.
Procalcitonin, an Independent Marker of Abdominal Fat Accumulation in Obese Patients.
Clin Lab
; 62(3): 435-41, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27156334