These contain outcomes for just 19 probands
, but they point to the same phenomenon.
Methods: A total of 315 probands
from 315 unrelated Chinese CMT families were recruited from the Department of Neurology of Third Xiangya Hospital and Xiangya Hospital.
identified rare variants of LZTR1 using whole-exome sequencing in 6/50 Brazilian probands
Whether applied to probands
or trios, the analysis of WES/ WGS data for identifying the genetic etiology of an undiagnosed disorder is guided by the hypothesis that the causative variant(s) is rare in the population and that it is penetrant.
The current study represents one of very few to explore the psychological adjustment of siblings of autistic probands
in Hong Kong.
are a phenotypically normal consanguineous couple who were referred to Center for Comprehensive Genetics Services in summer 2015 because of their history of 4 consecutive first trimester fetal loss.
All the probands
studied were compared with respect to their parental education, occupation, religion, presence of consanguineous relationship in parents and degree of consanguinity and accordingly classification of probands
A clinical and molecular evaluation of two probands
Generally, the probands
are harder on themselves than their spouses are; probands
feel guiltier, sadder, angrier, more frustrated, or that their kids are more affected than their spouses perceive, and going forward, we'll be analyzing what the kids say themselves.
The authors first established maternal haplotypes and identified the mutated haplotype from 4 DMD pregnant carrier female carriers and the respective probands
for the study were Caribbean Hispanics with suspected familial CRC who were identified through PURIFICAR database.
If depression is categorized into three ranked levels as shown in Table 5, the agreement of the classification based on information provided by the probands
with the classification based on information provided by other informants can be estimated using the unweighted kappa coefficient as follows: