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  • genetic abnormalities
  • Current technologies of molecular cytogenetics and molecular biology open new vistas in the detection and identification of unique, clone-specific genetic abnormalities in patients with AML. (linkos.cz)
  • As only half of the individuals with AML can be molecularly MRD followed-up using recurrent genetic abnormalities, there is still a sizeable proportion of patients who might benefit from the identification of the "finger prints"of their malignant cells for the design of clone-specific MRD Real-Time PCR assays. (linkos.cz)
  • Mutations
  • In the remaining individuals, no common molecular abnormality can be identified using standard diagnostic screening (AcutePlexX1, mutations in NPM1, WT1, CEBPa and others), though unique cytogenetic abnormalities can often be detected. (linkos.cz)
  • Severe
  • This chromosomal abnormality is associated with intellectual impairment (moderate-severe), behavioral disorder, epilepsy and dysmorphic features including microcephaly, turricephaly, deep-set-eyes, broad nasal bridge, high arched or cleft palate, carp shaped mouth and small hands and feet. (epilepsydiagnosis.org)
  • endometrial
  • detecting hybridization of the one or more probes, wherein a hybridization pattern showing at least one gain or loss or imbalance at a chromosomal region targeted by the probes is indicative of endometrial carcinoma. (google.es)
  • autism
  • Genome-wide scans of families affected by autism spectrum disorder (ASD) have revealed new evidence that previously unknown chromosomal abnormalities have a substantial role in the prevalent developmental disorder, according to a report published online Jan. 17th in the American Journal of Human Genetics, a publication of Cell Press. (biologynews.net)
  • Last year, with the Autism Genome Project Consortium, we did an initial study to look at the rate of chromosomal changes in autism. (biologynews.net)
  • cell
  • Molecular-cytogenetic techniques (mFISH, mBAND, BAC-FISH), chromosome microdissection, next generation sequencing, long-range PCR and direct Sanger sequencing were used to map the chromosomal translocation in the der(10)t(3;10)(p21.3;q23) characteristic for the cell line K562. (linkos.cz)
  • patients
  • The U.S. Food and Drug Administration today approved Venclexta (venetoclax) for the treatment of patients with chronic lymphocytic leukemia (CLL) who have a chromosomal abnormality called 17p deletion and who have been treated with at least one prior therapy. (fda.gov)
  • Our work clearly shows that "walking"from the chromosomal level to the nucleotide level is feasible and readily applicable for eligible AML patients. (linkos.cz)
  • early
  • In early-onset Myasthenia Gravis (MG) with anti-acetylcholine receptor antibodies, thymic abnormalities associated with ectopic germinal centers are frequent. (readbyqxmd.com)
  • possible
  • With the modern methods of determining possible abnormalities, parents can be better prepared for the baby's needs. (pregnancy-info.net)
  • The recent study however shows the possible connection of chromosomal aberration (what is a more complex change of the genetic information than a simple gene mutation) with the clubfoot, what is something new in this field. (gate2biotech.com)