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Antonis Kattamis

Biographic Data

ID8252969
NAMEAntonis Kattamis
GIVEN NAMESAntonis
FAMILY NAMEKattamis
SIGNATUREKATTAMIS A
AFFILIATIONSChildren's Hospital Agia Sophia
ORCID0000-0002-5178-0655
VERIFIEDYes
TOTAL WORKS2
TOTAL CITATIONS0
WORKS AS AUTHOR2
WORKS AS EDITOR0
FIRST PUBLICATION YEAR2023
LATEST PUBLICATION YEAR2025
H-INDEX0
  • Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics

    Open Access•Simoni Saranti, Nikoletta Selenti et al.•ARTICLE•Children•2025

    Background : Fanconi Anemia (FA) is a rare disorder, characterized by chromosomal instability, congenital abnormalities, progressive bone marrow failure, and predisposition to cancer. FA is caused by pathogenic variants in any of the 23 ( FANCA-FANCY ) linked genes. Procedure : Retrospective analysis of 13 FA patients with a causative variant was performed. Patients (6 boys and 7 girls) aged from 9 to 26 years old, (mean age of 7.3 years), at dia…

  • A Novel Variant in the TP53 Gene Causing Li–Fraumeni Syndrome

    Open Access•Dimitrios T Papadimitriou, Constantine A Stratakis et al.•ARTICLE•Children•2023

    Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in the tumor protein p53 ( TP53 ) gene and elevated risk of a broad range of early-onset malignancies. Patients with LFS are at risk of a second and third primary tumor. A 15-month-old girl consulted for clitoromegaly and pubic hair. Adrenal ultrasound detected a large left adrenal tumor. Left total adrenalectomy confirmed a…

No prominent works on this page.

  • A Novel Variant in the TP53 Gene Causing Li–Fraumeni Syndrome

    Open Access•Dimitrios T Papadimitriou, Constantine A Stratakis et al.•ARTICLE•Children•2023

    Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in the tumor protein p53 ( TP53 ) gene and elevated risk of a broad range of early-onset malignancies. Patients with LFS are at risk of a second and third primary tumor. A 15-month-old girl consulted for clitoromegaly and pubic hair. Adrenal ultrasound detected a large left adrenal tumor. Left total adrenalectomy confirmed a…

  • Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics

    Open Access•Simoni Saranti, Nikoletta Selenti et al.•ARTICLE•Children•2025

    Background : Fanconi Anemia (FA) is a rare disorder, characterized by chromosomal instability, congenital abnormalities, progressive bone marrow failure, and predisposition to cancer. FA is caused by pathogenic variants in any of the 23 ( FANCA-FANCY ) linked genes. Procedure : Retrospective analysis of 13 FA patients with a causative variant was performed. Patients (6 boys and 7 girls) aged from 9 to 26 years old, (mean age of 7.3 years), at dia…

Biology (2 works) · Gene (2 works) · Genetics (2 works) · Internal Medicine (2 works) · Medicine (2 works) · Adrenocortical carcinoma (1 work) · Anemia (1 work) · Bone marrow failure (1 work) · Breast cancer (1 work) · Cancer (1 work)

Ethnos_APP • Open Source Project • MIT License • Frontend v2.0.0 • Privacy and Cookies • API Documentation: api.ethnos.app/docs • API Source Code: GitHub • DOI: 10.5281/zenodo.17049435 • Frontend Source Code: GitHub • DOI: 10.5281/zenodo.17050053 • cruz.rio.br • Expectantes Misericordiae