CHROMOSOMAL ABNORMALITIES IN A REFERRED POPULATION: A REPORT OF 383 IRANIAN CASES [PDF]
Acta Medica Iranica, 1998 This report presents the cytogenetic findings (G -banded chromosomal analysis} in 383 cases referred for suspected chromosomal abnormalities because of abnormal clinical features.
M. T. Akbari. +2 more
doaj +1 more source
Recurrent spontaneous abortion related to balanced translocation of chromosomes: two case reports
Journal of Medical Case Reports, 2021 Background Recurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis. Balanced translocations or inversions can lead to unbalanced gametes depending on the specific recombination and ...
Xue Wan +4 more
doaj +1 more source
Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. [PDF]
, 2015 BackgroundNoninvasive prenatal screening (NIPS) by next-generation sequencing of cell-free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21 in high risk pregnancies.
Chu, Tianjiao +5 more
core +2 more sources
Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance
Aging and Cancer, EarlyView.NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang +3 more
wiley +1 more source
Preferential expression of the transcription coactivator HTIF1alpha gene in acute myeloid leukemia and MDS-related AML [PDF]
, 2002 HTIF1α, a transcription coactivator which is able to mediate RARα activity and functionally interact with PML, is encoded by a gene on chromosome 7q32–34, which is a critical region in acute myeloid leukemias (AML). With the assumption that this gene may
AGUIARI, Gianluca +8 more
core +1 more source
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky +8 more
wiley +1 more source
Molar pregnancy and co-existent foetus: A report of two cases [PDF]
, 2009 Molar pregnancy with a co-existent foetus will lead to preterm labour, severe preeclampsia or bleeding in most of the cases and may need urgent intervention.
Boustani, P. +3 more
core
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Submicroscopic chromosomal imbalances contribute to early abortion
Molecular Cytogenetics, 2018 Background Chromosomal abnormalities are one of the genetic mechanisms associated with abortion. However, the roles of submicroscopic chromosomal imbalances in early abortion are still unclear.
Haibo Li +10 more
doaj +1 more source
Upregulation of long noncoding RNA MIAT in aggressive form of chronic lymphocytic leukemias. [PDF]
, 2016 Long noncoding RNAs (lncRNAs) are non-proten-coding transcripts of more than 200 nucleotides generated by RNA polymerase II and their expressions are tightly regulated in cell type specific- and/or cellular differential stage specific- manner.
Croce, Carlo M +6 more
core +2 more sources