Atelosteogenesis Type 1 Latest Advances

Loss of Nuclear Profilin 1 Triggers Oncogenic Reprogramming of Mammary Epithelial Cells Through Dysregulated DNA Replication in Breast Cancer.

Journal: Journal of breast cancer

Published: April 02, 2025

Attenuated Form of Nijmegen Breakage Syndrome: Case Report of the Oldest Patient.

Journal: American journal of medical genetics. Part A

Published: February 15, 2025

Successful combined anti-CD19 immunotherapy of relapsed acute lymphoblastic leukaemia in a child with Nijmegen breakage syndrome.

Journal: British journal of haematology

Published: November 23, 2024

Resolution of granulomatous lesions in a Nijmegen breakage syndrome patient with severe immunodeficiency after hematopoietic stem cell transplantation.

Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

Published: July 31, 2024

Correction to "Radiosensitivity in a newborn with microcephaly: A case report of Nijmegen breakage syndrome".

Journal: Birth defects research

Published: June 14, 2024

A Rare Case of Early T-Precursor Lymphoblastic Lymphoma (ETP-LBL) in a Child With Nijmegen Breakage Syndrome.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: May 25, 2024

Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine.

Journal: Frontiers in immunology

Published: May 06, 2024

Research Progress in the Roles of MRE11-RAD50-NBS1 Complex and Human Diseases

Journal: Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae

Published: April 30, 2024

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.

Journal: Nature communications

Published: April 29, 2024

Liver Transplantation for Nijmegen Breakage Syndrome With Hepatic Malignancy and Hepatopulmonary Syndrome After Bone Marrow Transplantation: A Case Report.

Journal: Pediatric transplantation

Published: March 07, 2024

Neuroblastoma Occurring in Nijmegen Breakage Syndrome.

Journal: Journal of pediatric hematology/oncology

Published: February 26, 2024

Correction to: Positive diepoxybutane test in a patient with Nijmegen breakage syndrome, by Marta S Gallego, C Z Barreiro, S Danielian, S D Rosenweig (Pediatr Blood Cancer. 2007 Jul;49(1):110; https://doi.org/10.1002/pbc.20941; PMID: 16862537).

Journal: Pediatric blood & cancer

Published: December 27, 2023