[HTML][HTML] Exploring the genetic causality of discordant phenotypes in familial apparently balanced translocation cases using whole exome sequencing

C Aristidou, A Theodosiou, A Alexandrou… - Genes, 2022 - mdpi.com
Familial apparently balanced translocations (ABTs) are usually not associated with a
phenotype; however, rarely, ABTs segregate with discordant phenotypes in family members …

[HTML][HTML] A Systematic Review of Reproductive Counseling in Cases of Parental Constitutional Reciprocal Translocation (9; 22) Mimicking BCR-ABL1

Z Gao, SM Rice, S Wodoslawsky, SC Long… - Frontiers in …, 2022 - frontiersin.org
We aim to determine the spectrum of cytogenetic abnormalities and outcomes in
unbalanced offspring of asymptomatic constitutional balanced t (9; 22) carriers through a …

[图书][B] CELF Control in the Neuron

D Jones - 2022 - search.proquest.com
CELF4 is a brain-specific member of the CELF RNA binding protein (RBP) family that binds
a significant portion of the transcriptome with striking selectivity for the 3'UTR of neuronal …