P774: Chromosome breakage analysis (CBA) is a powerful functional assay for classification of novel variants in Fanconi anemia genes

P774: Chromosome breakage analysis (CBA) is a powerful functional assay for classification of novel variants in Fanconi anemia genes

Saved in:

Bibliographic Details
Main Authors:	Mina Tabrizi, Craig Davis, Donna Blackwell, Timothy O'Brien, Amiee Potter, Luke Boyd, Alaa Koleilat, Susan Olson
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774425011823
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Clinicohematological correlation and chromosomal breakage analysis in suspected Fanconi anemia patients of India
by: Mohit Chowdhry, et al.
Published: (2014-01-01)

Molecular diagnosis of Fanconi anemia with next-generation sequencing in a case with subtle signs and a negative chromosomal breakage test
by: Deniz Aslan, et al.
Published: (2015-06-01)

Chromosomal instability in patients with Fanconi anemia from Serbia
by: Ćirković Sanja, et al.
Published: (2014-01-01)

Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications
by: Stefan Meyer, et al.
Published: (2012-01-01)

The 13th Fanconi Anemia Gene Identified: FANCI – Importance of the ‘Fanconi Anemia Pathway’ for Cellular Oncology
by: Gerrit A. Meijer
Published: (2007-01-01)

The Fanconi Anemia Pathway of Genomic Maintenance
by: Marieke Levitus, et al.
Published: (2006-01-01)

Genetic diagnosis of Fanconi anemia. Literature review
by: A. V. Panferova, et al.
Published: (2016-10-01)

Asplenia in a patient with Fanconi's anemia-like congenital aplastic anemia
by: E Erduran, et al.
Published: (2000-04-01)

Hepatocyte senescence and persistent liver injury in Fanconi anemia
by: Jane Koo, et al.
Published: (2025-03-01)

Mitochondrial DNA variations and mitochondrial dysfunction in Fanconi anemia.
by: Avani Solanki, et al.
Published: (2020-01-01)

Development and validation of nomograms for survival prediction in Fanconi anemia
by: Yiman Gao, et al.
Published: (2025-06-01)

Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing
by: Najim Ameziane, et al.
Published: (2012-01-01)

Fanconi anemia presenting as an "evolving" acute leukemia-diagnostic challenges
by: Swasti Sinha, et al.
Published: (2013-01-01)

Identification of the Fanconi Anemia Complementation Group I Gene, FANCI
by: Josephine C. Dorsman, et al.
Published: (2007-01-01)

Fanconi Anemia Proteins and Their Interacting Partners: A Molecular Puzzle
by: Tagrid Kaddar, et al.
Published: (2012-01-01)

Fanconi Anemia: Challenges in Diagnosis and Management—A Case Series Report
by: Aziz Eghbali, et al.
Published: (2024-11-01)

A DOG’s View of Fanconi Anemia: Insights from C. elegans
by: Martin Jones, et al.
Published: (2012-01-01)

The Fanconi Anemia Pathway Protects Genome Integrity from R-loops.
by: María L García-Rubio, et al.
Published: (2015-11-01)

Gene loss in Antarctic icefish: evolutionary adaptations mimicking Fanconi Anemia?
by: Seung Chul Shin, et al.
Published: (2024-11-01)

Fanconi anemia: a single center experience of a large cohort
by: Selman Kesici, et al.
Published: (2019-08-01)

Hematopoietic Stem Cell Transplant in Adult Patients with Fanconi Anemia: A Review
by: Bradley Rockwell, et al.
Published: (2025-06-01)

Fanconi anemia patients are more susceptible to infection with tumor virus SV40.
by: Manola Comar, et al.
Published: (2013-01-01)

Defective FANCI binding by a fanconi anemia-related FANCD2 mutant.
by: Koichi Sato, et al.
Published: (2014-01-01)

Case Report: Eltrombopag in mosaic and gene therapy-treated patients with Fanconi anemia
by: Josune Zubicaray, et al.
Published: (2025-08-01)

Anemia de Fanconi: relato de dois casos na mesma família
by: Patricia J. Campos Olazábal, et al.
Published: (1983-09-01)

Detección de bacterias periodontopáticas en niños con anemia de Fanconi
by: Karine Lyko, et al.
Published: (2021-02-01)

Failure or delay in diagnosing Fanconi anemia--a well-defined genetic disorder
by: Deniz Aslan
Published: (2013-08-01)

APPLICATION OF CLASSIFICATION BASED ASSOCIATION (CBA) FOR MONKEYPOX DISEASE DETECTION
by: Qoria Yudi Pratama, et al.
Published: (2025-01-01)

Gingival Bleeding in a Child with Fanconi Anemia: A Case Report and Literature Review
by: Dorsaf Touil, et al.
Published: (2020-01-01)

Therapeutic gene editing in CD34+ hematopoietic progenitors from Fanconi anemia patients
by: Begoña Diez, et al.
Published: (2017-09-01)

Contribution of p53-dependent and -independent mechanisms to upregulation of p21 in Fanconi anemia.
by: Xavier Renaudin, et al.
Published: (2024-11-01)

The Fanconi anemia group C protein interacts with uncoordinated 5A and delays apoptosis.
by: FengFei Huang, et al.
Published: (2014-01-01)

DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences
by: Rehab Mosaad, et al.
Published: (2024-12-01)

Factors influencing fans' spectating experience and configuration effects in CBA league.
by: Duan Yu, et al.
Published: (2025-01-01)

Nondisjunction of a single chromosome leads to breakage and activation of DNA damage checkpoint in G2.
by: Oliver Quevedo, et al.
Published: (2012-01-01)

Correction of Fanconi Anemia Group C Hematopoietic Stem Cells Following Intrafemoral Gene Transfer
by: Ouassila Habi, et al.
Published: (2010-01-01)

Inhibition of the STAT3/Fanconi anemia axis is synthetic lethal with PARP inhibition in breast cancer
by: Celia D. Rouault, et al.
Published: (2025-03-01)

Development of translational read-through-inducing drugs as novel therapeutic options for patients with Fanconi anemia
by: Anca Manuela Hristodor, et al.
Published: (2025-06-01)

Phase 1 study of quercetin, a natural antioxidant for children and young adults with Fanconi anemia
by: Parinda A. Mehta, et al.
Published: (2025-04-01)

Critical role of alpha spectrin in DNA repair: the importance of μ-calpain and Fanconi anemia proteins
by: Muriel W. Lambert
Published: (2025-05-01)