Results 41 to 50 of about 85,361 (267)
Balkan Medical Journal, 2018 Background: Fanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour homozygous or double heterozygous mutations in the FANCA (60-65%), FANCC (10-15 ...
Marija Dimishkovska +5 more
doaj +1 more source
Nursing diagnosis after hematopoietic stem cell transplant due to Fanconi anemia
Revista Brasileira de Enfermagem, 2021 Objectives: to identify nursing diagnoses in patients who underwent hematopoietic stem-cell transplants due to Fanconi anemia, according to the NANDA-I taxonomy.
Lara Cássia Silva Sandri +3 more
doaj +2 more sources
Preventing hereditary cancers caused by opportunistic carcinogens [PDF]
, 2011 Objectives Previous studies reported inherited BRCA1/2 deficits appear to cause cancer by impairing normal protective responses to some carcinogens.
Bernard Friedenson
core +2 more sources
PALB2 self-interaction controls homologous recombination. [PDF]
, 2012 PALB2 is essential for BRCA2 anchorage to nuclear structures and for homologous recombinational repair of DNA double-strand breaks. Here, we report that the N-terminal coiled-coil motif of PALB2 regulates its self-association and homologous recombination.
Buisson, Rémi, Masson, Jean-Yves
core +1 more source
Molecular Oncology, EarlyView.Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard +12 more
wiley +1 more source
Haematologica, 2010 Reduced fertility is one clinical manifestation among other well known Fanconi anemia features. Most recipients of allogeneic hematopoietic stem cell transplantation suffer from secondary infertility owing to gonadal damage from myeloablative ...
Samir K. Nabhan +14 more
doaj +1 more source
Genome-wide search for strabismus susceptibility loci. [PDF]
, 2003 The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake +6 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu +10 more
wiley +1 more source
Molecular Cytogenetics, 2020 Background Fanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair.
Anna Repczynska +6 more
doaj +1 more source
Influence of catalase on the radiosensitivity of Fanconi anemia lymphocytes in vitro [PDF]
Archives of Biological Sciences, 2009 Fanconi anemia (FA) is a genetic disease characterized by progressive pancytopenia and cancer susceptibility. The clinical and cellular phenotypes of Fanconi anemia are associated with a set of redox abnormalities, indicating that FA is an oxidative ...
Petrović Sandra +5 more
doaj +1 more source