Sentence examples for micro deletions of from inspiring English sources

Point mutations or micro deletions of candidate HREs were generated by overlap extension PCR.

We summarize clinical and behavioral impairments in children and adults with one such genetic syndrome, the 22q11.2 Deletion Syndrome, routinely called 22q11DS, caused by micro-deletions of between 1.5 and 3.0 MB on human chromosome 22.

Examples of these lesions include micro-deletions of chromosomes 6 and 20.

In addition, other copy number changes were detected as well, including segmental micro-deletions of chromosomes 1, 5, 9 and 12, among others (Table 2).

The transformation process is often associated with the acquisition of additional defects (e.g. del6p as demonstrated in patient #29, or micro-deletions of chromosomes 4 and 19 as demonstrated in patient #38).

Recently, point mutations or micro-deletions of the SHANK3 gene have been identified, accompanied by a phenotype different from the initial clinically description in Phelan McDermid syndrome.

A micro-deletion of a presynaptic glycine-transporter-gene (GlyT2, SLC6A5) has been identified in affected Irish Wolfhound puppies [ 89].

We applied our assay to the detection of a micro-deletion of the OPA1 gene in a family with ADOA where such a deletion had previously been identified.

Micro-deletion of chromosome 22q11.2 is one of the most clinically variable syndromes, with more than 180 features associated with the deletion.

The next step was to find out which of the 7 presumptive HREs included in the [−1170- +1] interval are responsible for Sima-dependent induction, so we performed point mutations or micro deletions in each of these HREs in the context of the endogenous promoter.

In terms of the prognostic impact of these micro deletions, none were associated with an increase of relapse except the IKZF1 deletion (Table 5).