Alexandra Efthymiadou

Author

University of Patras ORCID

Also Known As

A Efthymiadou, Alexandra Efthymiadou

Publications

674

Citations

H-Index

Concepts

All Affiliations

University of Patras National and Kapodistrian University of Athens Children's Hospital Agia Sophia University of Cambridge Wellcome/MRC Institute of Metabolic Science

About

Alexandra Efthymiadou is an author at University of Patras specializing in medicine, genetics, and pediatrics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	283
2	Education	1	1	59
3	Natural Sciences	1	1	40
4	Public Health	1	1	13
5	Anatomy	1	1	18

Alexandra Efthymiadou

Publications

619

Citations

H-Index

Page 1

	Year	Citations
CFTR gene mutations - including three novel nucleotide substitutions - and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease Maria Tzetis, Alexandra Efthymiadou, Stefanos Strofalis, Human Genetics AsthmaHaplotype BackgroundAdvanced Lung DiseaseRespiratory DiseasesGenetics	2001	139
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients Carla Moran, Maura Agostini, W. Edward Visser, The Lancet Diabetes & Endocrinology	2014	124
Fibroblast growth factor 23 and Klotho serum levels in healthy children Despοina Gkentzi, Alexandra Efthymiadou, Dimitra Kritikou, Bone FibrosisGrowth HormoneHuman GrowthPediatricsPathology	2014	59
CFTR Localization in Native Airway Cells and Cell Lines Expressing Wild-type or F508del-CFTR by a Panel of Different Antibodies Isabel Carvalho‐Oliveira, Alexandra Efthymiadou, Rui Malhó, Journal of Histochemistry & Cytochemistry	2004	45
Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high‐risk individuals Emmanuel Kanavakis, Alexandra Efthymiadou, Stefanos Strofalis, Clinical Genetics	2003	43
Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A→G, 2751+2T→A, 296+1G→C, 1717–9T→C-D565G) and one nonsense mutation (E822X) in the CFTR gene Maria Tzetis, Alexandra Efthymiadou, Stavros Doudounakis, Human Genetics Transcriptional RegulationNatural SciencesGeneticsQuantitative AnalysisRna Splicing	2001	40
Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development Teresa G. Krieger, Carla Moran, Alberto Frangini, Proceedings of the National Academy of Sciences	2019	40
Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis Anja L.M. van Gucht, Marcel E. Meima, Carla Moran, The Journal of Clinical Endocrinology & Metabolism	2017	21
45,X/46,XY mosaicism: a cause of short stature in males Alexandra Efthymiadou, Eunice G. Stefanou, Dionisios Chrysis HORMONES Gross AnatomyMendelian DisorderGenetic DisorderGeneticsSex Differences	2012	18
The effect of GH treatment on serum FGF23 and Klotho in GH-deficient children Alexandra Efthymiadou, Dimitra Kritikou, Stefanos Mantagos, European Journal of Endocrinology	2016	17

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