Fanis, Pavlos

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

Borg, J., Papadopoulos, P., Georgitsi, M., Gutiérrez, L., Grech, G., Fanis, P., Phylactides, M., Verkerk, A. J. M. H., van der Spek, P. J., Scerri, C. A., et al. (2010) · Nature Genetics

Hemoglobinopathies and Related DisordersKruppel-like factors research

Cited by 371

Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia

Neocleous, V., Fanis, P., Phylactou, L. A., & Skordis, N. (2018) · Frontiers in Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 16

Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene

Fanis, P., Neocleous, V., Kosta, K., Karipiadou, A., Hartmann, M. F., Wudy, S. A., Karantaglis, N., Papadimitriou, D. T., Skordis, N., Tsikopoulos, G., et al. (2021) · Journal of Pediatric Endocrinology and Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 10

Reduced serum concentrations of biomarkers reflecting leydig and sertoli cell function in male patients with congenital adrenal hyperplasia

Johannsen, T. H., Albrethsen, J., Neocleous, V., Baronio, F., Cools, M., Aksglaede, L., Jørgensen, N., Christiansen, P., Toumba, M., Fanis, P., et al. (2023) · Endocrine Connections

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 9

Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene

Fanis, P., Skordis, N., Phylactou, L. A., & Neocleous, V. (2023) · HORMONES

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 4