Results 21 to 30 of about 115,857 (367)
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 357-369, February 2023., 2023 Abstract Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active‐unmethylated alleles has prognostic utility.
Emma K. Baker +17 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023 Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin +47 more
wiley +1 more source
On the origin of trisomy 21 Down syndrome [PDF]
, 2008 Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Hultén, Maj A. +6 more
core +2 more sources
The Prognostic Role of Cytogenetics Analysis in Philadelphia Negative Myeloproliferative Neoplasms
Medicina, 2021 Myeloproliferative neoplasms (MPNs) are clonal stem cell disorders characterized collectively by clonal proliferation of myeloid cells with variable morphologic maturity and hematopoietic efficiency. Although the natural history of these neoplasms can be
Giuseppe Lanzarone, Matteo Olivi
doaj +1 more source
PLoS ONE, 2018 We analyzed treatment outcomes and prognostic factors in adult patients with therapy-related myeloid neoplasms (t-MNs) to select patients who would be benefited by active anticancer treatment. After excluding 18 patients who received palliative care only
Sang-A Kim +7 more
doaj +1 more source
Molecular Cytogenetics in the Era of Chromosomics and Cytogenomic Approaches
Frontiers in Genetics, 2021 Here the role of molecular cytogenetics in the context of yet available all other cytogenomic approaches is discussed. A short introduction how cytogenetics and molecular cytogenetics were established is followed by technical aspects of fluorescence in ...
Thomas Liehr
doaj +1 more source
“Classical cytogenetics” is not equal to “banding cytogenetics” [PDF]
Molecular Cytogenetics, 2017 Human cytogenetics is a field suffering from the argumentation that it 'is nowadays really outdated and to be replaced by molecular high throughput approaches'. Thus, it is to be expected that non-cytogeneticists do mistakes in nomenclature of cytogenetics, which is exposed to repeated reforms, like e.g.
openaire +3 more sources
Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes
Scientific Reports, 2022 Myelodysplastic syndromes (MDS) are a group of clonal hematological disease with high risk of progression to AML. Accurate risk stratification is of importance for the proper management of MDS.
Nehakumari Maurya +8 more
doaj +1 more source
Advances in Microfluidics and Lab-on-a-Chip Technologies [PDF]
Molecular Diagnostics (3rd Ed.), Academic Press, 2017, pp 197-217,
ISBN 9780128029718, 2017 Advances in molecular biology are enabling rapid and efficient analyses for effective intervention in domains such as biology research, infectious disease management, food safety, and biodefense. The emergence of microfluidics and nanotechnologies has enabled both new capabilities and instrument sizes practical for point-of-care. It has also introduced
arxiv +1 more source
Ofatumumab and high-dose methylprednisolone for the treatment of patients with relapsed or refractory chronic lymphocytic leukemia. [PDF]
, 2014 Ofatumumab is a humanized anti-CD20 monoclonal antibody that has been approved by the FDA for the treatment of patients with chronic lymphocytic leukemia. We conducted a phase II single-arm study at a single center.
Almahasnah, E +6 more
core +3 more sources