Results 51 to 60 of about 82,801 (216)
Telomere length in inherited bone marrow failure syndromes
Haematologica, 2015 Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes.
Blanche P. Alter +3 more
doaj +1 more source
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia [PDF]
, 2016 We report the findings from a patient who presented with a concurrent mediastinal germ cell tumor (GCT) and acute myeloid leukemia (AML). Bone marrow pathology was consistent with a diagnosis of acute megakaryoblastic leukemia (AML M7), and biopsy of an ...
Demeter, Ryan T +12 more
core +2 more sources
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2018 Fanconi anemia (FA) is a rare human recessive syndrome featuring bone marrow failure, myelodysplasia, and predisposition to cancer as well as chromosome fragility and hypersensitivity to DNA interstrands crosslinking agents. FA was described in 1927 by the Swiss pediatrician Giuseppe Fanconi, which reported a first family with three affected sibling ...
openaire +2 more sources
Don't Cut the Cord: Why Umbilical Cord Blood Still Deserves a Place in Transplantation
International Journal of Immunogenetics, EarlyView.ABSTRACT The use of umbilical cord blood (UCB) as a stem cell source in haematopoietic stem cell transplant (HSCT) has greatly declined in recent years. It has largely been replaced by mismatched unrelated and family donors, facilitated by advances in transplant technologies, including post‐transplant cyclophosphamide to prevent graft‐versus‐host ...
Jenna Nunn, Kay Poulton, Robert Wynn
wiley +1 more source
Nature Communications, 2017 Fanconi anemia is a complex disease affecting multiple DNA repair proteins that resolve DNA crosslinks which can block vital processes. Here the authors use parallel genome-wide screens that identify the BLM helicase complex as a suppressor of Fanconi ...
Martin Moder +15 more
doaj +1 more source
An abnormal bone marrow microenvironment contributes to hematopoietic dysfunction in Fanconi anemia
Haematologica, 2017 Fanconi anemia is a complex heterogeneous genetic disorder with a high incidence of bone marrow failure, clonal evolution to acute myeloid leukemia and mesenchymal-derived congenital anomalies.
Yuan Zhou +21 more
doaj +1 more source
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld +6 more
wiley +1 more source
Revista Paulista de Pediatria, 2023 Objective: The aim of this study was to elaborate a specific protocol for the assessment and early identification of skin lesions in pediatric patients with Fanconi anemia undergoing hematopoietic stem cell transplantation.
Leane Dhara Dalle Laste +4 more
doaj +1 more source
Journal of Anatomy, EarlyView.We review the characteristic changes to the limb soft tissue and neurovascular abnormalities that have been described in the congenital limb birth defect, Radial Dysplasia. These include consistent changes in muscle anatomy or absence of specific muscles, persistent median arteries and absent radial arteries and consistent alterations in neural ...
Marco Correia Duarte +6 more
wiley +1 more source
Haematologica, 2018 The National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort enrolls patients with the four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, and follows them with a common ...
Blanche P. Alter +3 more
doaj +1 more source