Fabiana J. Lubieniecki

1881 Combate De Los Pozos Street
B, Argentina

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 51 publications

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Journal: Human mutation

Published: January 25, 2026

In Vitro Stability and Preclinical Safety Evaluation of High-Dose Intravitreal Topotecan in Rabbits: Impact of Dose and Concentration.

In Vitro Stability and Preclinical Safety Evaluation of High-Dose Intravitreal Topotecan in Rabbits: Impact of Dose and Concentration.

Journal: Ophthalmology science

Published: July 01, 2025

PLAG1 fusions define a third subtype of CNS embryonal tumor with PLAG family gene alteration.

PLAG1 fusions define a third subtype of CNS embryonal tumor with PLAG family gene alteration.

Journal: Acta neuropathologica

Published: May 08, 2025

A novel deep intronic variant in the DMD gene causes Duchenne muscular dystrophy by pseudoexon activation encoding a nonsense codon.

A novel deep intronic variant in the DMD gene causes Duchenne muscular dystrophy by pseudoexon activation encoding a nonsense codon.

Journal: Gene

Published: May 13, 2024

Establishment and Comprehensive Characterization of a Novel Preclinical Platform of Metastatic Retinoblastoma for Therapeutic Developments.

Establishment and Comprehensive Characterization of a Novel Preclinical Platform of Metastatic Retinoblastoma for Therapeutic Developments.

Journal: Investigative ophthalmology & visual science

Published: December 20, 2023

Immunohistochemical expression of TFF1 is a marker of poor prognosis in retinoblastoma.

Immunohistochemical expression of TFF1 is a marker of poor prognosis in retinoblastoma.

Journal: Pediatric blood & cancer

Published: July 28, 2023

EpiGe: A machine-learning strategy for rapid classification of medulloblastoma using PCR-based methyl-genotyping.

EpiGe: A machine-learning strategy for rapid classification of medulloblastoma using PCR-based methyl-genotyping.

Journal: iScience

Published: March 31, 2023

Closing the gap: National Argentinian discussion forum on paediatric brain tumours.

Closing the gap: National Argentinian discussion forum on paediatric brain tumours.

Journal: Frontiers in oncology

Published: March 13, 2023

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.

Journal: Acta neuropathologica communications

Published: June 17, 2022

The spectrum of morphological findings in pediatric central nervous system MN1-fusion-positive neuroepithelial tumors.

The spectrum of morphological findings in pediatric central nervous system MN1-fusion-positive neuroepithelial tumors.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: January 26, 2022

Medulloblastoma and Down Syndrome: An Extremely Rare Association.

Medulloblastoma and Down Syndrome: An Extremely Rare Association.

Journal: Journal of pediatric hematology/oncology

Published: December 14, 2021

Targeted therapies with BRAF inhibitors for pediatric low- and high-grade gliomas with BRAFv600e mutation. Prof. Dr. Juan P. Garrahan Hospital experience

Targeted therapies with BRAF inhibitors for pediatric low- and high-grade gliomas with BRAFv600e mutation. Prof. Dr. Juan P. Garrahan Hospital experience

Journal: Medicina

Published: October 11, 2021

Showing 1-12 of 51

Last Updated: 09/26/2026